ICHTHYOSIS FOCUS Vol. 21, No. 1 A Quarterly Journal for Friends of F.I.R.S.T. Spring 2002

Unlocking the Secrets of a Rare Ichthyosis

abriele Richard, MD, Assistant Professor of A note from Dr. Richard: Our research group GDermatology and Genetics at the Thomas greatly acknowledges the support of F.I.R.S.T., Jefferson University in Philadelphia, received an along with the ASA, NAAF, and the National American Skin Association Categorical Disease Registry for Ichthyosis and Related Disorders, as Grant for Childhood Skin Disease Research. well as the participation of many families in our Specifically, she studied the genetics of Netherton studies. With the help of a F.I.R.S.T. research award Syndrome (NTS), a rare form of severe ichthyosis (awarded in 1999) we were able to perform genetic associated with other abnormalities. linkage studies to localize the Netherton Syndrome NTS is an inherited disorder that presents at gene and to initiate mutation analysis of SPINK5. birth with generalized redness, thickening and The financial support allowed us to amass a critical scaling of the skin, which may persist through life amount of data to successfully apply for NIH fund- or change into scaly, itchy plaques. The hairs may Gabriele Richard, MD ing of our research. As a result, we were able to be sparse, fragile, and short due to multiple swellings along screen more than 31 NTS families to date, identifying 24 dis- the hair shafts, at which the hair breaks easily. Also charac- tinct SPINK5 mutations in 23 families. In 8 families genetic teristic of NTS is a predisposition to allergies, infections, and testing revealed no mutations in SPINK5, suggesting that these sometimes, failure to thrive. The skin conditions reflects a patients may suffer from another type of congenital ichthyosis. disturbance in the process of “cornification,” which is neces- In the course of our research studies we have developed an sary to form the horny layer of our skin, thus protecting the effective mutation screening strategy, which enabled us to body from water loss and mechanical, biological, and chemi- establish molecular testing for Netherton Syndrome on a routine cal damage. basis. Diagnostic testing and prenatal testing are now being In her progress report, Dr. Richard stated that her team had offered by our CLIA certified Molecular Diagnostics “made remarkable progress in uncovering the genetic basis” of Laboratory at the Department of Dermatology and Cutaneous Netherton Syndrome. For the study, Dr. Richard recruited NTS Biology, Jefferson Medical College in Philadelphia, PA. patients from 21 families. Although the families were of diverse backgrounds, including Northern European, Mediterranean, Middle Eastern, and African American origins, Register Now!!! the genetic studies suggested a single disease gene. The research team pin-pointed this gene to a small area “on the 2002 Conference long arm of chromosome 5” and succeeded in identifying a A Family Affair: Caring, gene called SPINK5 as the NTS gene. This information was revealed after Dr. Richard’s team found disease-causing muta- Sharing & Support tions (changes in the DNA code) in SPINK5 in 14 of the 21 July 5-7, 2002 tested NTS families in the study. Mutation screening yielded a Seattle, Washington total of 19 distinct mutations. Based on the team’s data and mutation-detection strategy, they successfully performed the first prenatal diagnosis for NTS. Dr. Richard reports that her team’s work has paved the way for “molecular diagnostic testing in NTS, accurate genetic coun- seling and carrier detection, and prenatal diagnosis of NTS.” Reprinted from the American Skin Association Journal Skin Deadline for Registration Facts, Volume 8, Issue 3, Fall 2001. June 14, 2002 See pages 14 & 15 for details 2 Ichthyosis Focus

Ichthyosis Focus

Vol. 21, No. 1 Spring 2002 Correspondence Corner

Copyright © 2002 by the Foundation for Dear Jean, Ichthyosis & Related Skin Types I have finished reading my newsletter, Winter 2002, and though I enjoy all the articles, there has been a sector of the population that has been forgotten, our Senior Citizens who are 55 and over. Ichthyosis Focus is published Those of us who might be alone in dealing with this problem, who have experienced much dis- quarterly by the Foundation for comfort in taking care of our skin, the largest living organ on our body. Ichthyosis & Related Skin Types In the article titled “The Ichthyosis Registry Needs You”, it says, “with the exception of Ichthyosis vul- Request to reprint information contained in Ichthyosis Focus garis”. This eliminates many of us who have problems every day. Maybe it’s not life threatening, a should be directed to the editor. determination most dermatologists make when we go in to see them. Maybe the skin is OK on my face, but I have to maintain it, and my body, every single day. What miracle have they found out about The Foundation for Ichthyosis ichthyosis vulgaris that we are excluded from learning about? I was contacted by email one time, to & Related Skin Types see if I would be agreeable to email others who had my same problem, I sent in an email saying yes. 650 N. Cannon Avenue That was it, never had another email again. We can contribute as seniors – in many ways. If nothing Suite 17 else, give us some forum where we can share ideas and life challenges. New products come out every Lansdale, PA 19446 issue, but we are on fixed incomes and are not always able to invest. We have to be satisfied with 215.631.1411 what we are now using. And how about those who are in retirement and or assisted living homes? 800.545.3286 Who takes the time to consult this venue on the care of their skin? Most seniors ache in many areas, 215.631.1413 fax but those of us who have Ichthyosis have one more ache, it is the calming and treating of our skin. I email — [email protected] am sure these business and care facilities have no idea of Ichthyosis. Medical doctors and dermatolo- www.scalyskin.org gists treat this as though it is not a real concern. The answer is EDUCATION.

Editor And please don’t let it be just targeted only to the young. Look at the registration form for the Maureen Tierney 2002 Family Conference. There is a place for 18 and older, but we are much older, and have our- Medical Editor selves to take care of. How about a check off space: Senior, 55 and older. Will there be topics at Amy Paller, M.D. the conference just for seniors? The one meeting I attended on the West Coast about 8 years ago, the seniors were forgotten. Please don’t get me wrong. I was once a child, and to my parents it Science Writer was a real dilemma. Now I am grown up and would like to discuss this part of life with someone Betsy Bates-Freed who has been around a while.

Editorial Assistants I would be more than proud to assist in any way to get a communication line formed for Senior Louis Giuliana Citizens with Ichthyosis. I have a computer, and the ability to use it. I love people, and have the Tiffany Karst caring and feeling for the sensitivity involved in dealing with this problem. Thank you for reading The Foundation for Ichthyosis & my thoughts, and hope to hear from you. Related Skin Types is a 501 (c) 3 charitable organization supported by Sincerely, public and private donations. All con- tributions to the Foundation. are tax Beverly A. Browne deductible to the full extent of the law. [email protected] El Dorado Hills, CA The editor invites your correspon- dence. We welcome your comments, observations and suggestions. Please send your letters to Ichthyosis Focus Editor’s note: Individuals with ichthyosis vulgaris are excluded from the Registry for two reasons. at the address listed above. 1. The Registry application requires specific criteria for diagnosis and, of all the ichthyoses, ichthyosis vulgaris is the most difficult to diagnose clearly. 2. The number of people with Ichthyosis Focus is provided as a service to members of the ichthyosis vulgaris (estimated incidence between 1 in 250 and 1 in 5,300) could potentially over- Foundation as a medium for the free whelm the resources of the Registry. So ichthyosis vulgaris is excluded because of the potential exchange of information. Neither the Foundation for Ichthyosis & Related for being overwhelmed by people whose diagnosis could not be confirmed. Research into any of Skin Types its Board of Directors, its the forms of ichthyosis has the potential to help all individuals with ichthyosis. The Registry pro- Medical Advisory Board, nor the vides a ready source of subjects with clear and complete diagnoses to researchers interested in Focus Editors endorse any treat- ments or products in Ichthyosis investigating the ichthyoses. There is a study currently being conducted across the country for Focus. Views and opinions the treatment of ichthyosis vulgaris. Contact Maureen in the national office for more details, expressed in this publication do not 800-545-3286. necessarily reflect the views of Foundation or Foundation officials. continued on page 8 Volume 21, No. 1 / Spring 2002 3 What’s New, What’s Hot & What Works…

I find 2% Nizoral Shampoo Lamellar Ichthyosis. Recently we started My two daughters, age 16 and 17, have really helps control scalp flak- using a drug called Protopic 0.1% in com- Netherton’s Syndrome, and we’ve found a ing. Work it in, leave it on for bination with PDS cream. Protopic is typi- hair care strategy that really works. Our 5 minutes and rinse off. You cally used in people with mild to moderate doctor had been reading about testing do need a prescription for it, eczema. The active ingredient in Protopic Biotin (a coenzyme that works with but a little bit goes a long is Tacrolimus, an immune suppressant Vitamin B complex vitamins) in balding way. Order it in quantities of used in transplant patients to prevent rejec- men and he suggested we try that with the two and you will have it for tion of the new organ. We have had amaz- girls. Due to allergies to the gelatin cap- a while. It comes in 4 fluid ing results with this product and I thought sules, the drugstore would measure the ounces and is made by Janssen it was important to let others with powder into paper envelopes. The girls Pharmaceutica, Inc., Titusville, NJ. Be ichthyosis know about our experience. would eat it with jelly or mashed bananas. sure to ask for 2% Nizoral; ketonazole 2% We started using Protopic twice a day, Tera took it regularly but Mandy refused it is the active ingredient. every day, with PDS cream after baths. because it was bitter. Over the years Tera’s Easton B. Smith Immediately we saw Tatum’s skin hair grew to shoulder length while Mandy’s Fairfield, CT improve. It was not only visibly broke off at about half an inch. Finally improved; it was very soft and smooth. Mandy decide to take the Biotin too and My daughter Jenna is eight years old Our doctor thought it would be wise to her hair is about 6 inches long now. This and has ichthyosis. I knew right from birth check a blood level at this point because has made a world of difference with my that she had extremely dry skin. The hospi- Tacrolimus could be absorbed into the girls! It does take some time before the hair tal gave me Eucerin to use on her entire bloodstream. When we checked Tatum’s starts to grow, so you have to be patient. body but after two weeks there was little level it was as elevated as someone taking If the girls stop taking it their hair tends to improvement so I brought her to a derma- the drug orally. We then went to twice a fall out in patches. In Germany we were tologist. The doctor claimed Jenna had day applications every other day, all over, able to get the insurance company to make “Infantile Dry Skin.” Since that day we after taking baths. After one week an exception and cover the costs, but I have been to seven dermatologists. Lac- Tatum’s blood level dropping significantly don’t think Biotin is overly expensive. Hydrin Lotion, which is a great treatment but was still too high. After doing some The girls take regular tablets now. for ichthyosis, was the only treatment pre- research our doctor decided we should Lisa Grasser scribed but it stung her skin so badly it change the dosage to twice a day every Litzlohe, Germany broke my heart. Others would recommend third day just on certain areas, the face Vaseline, which worked when she was a and lower legs. After using this regimen The Medicine Program baby. But now that she is eight and already for two weeks Tatum’s blood level was Do you need prescription medications worrying about her appearance, Jenna feels right where it should be. Her skin at this that you cannot afford but you do not qual- the Vaseline makes her skin too shiny. With dosage is as improved as when we were ify for government programs that pay for the help of her doctor we now have a rou- using it more frequently. We are very prescriptions, like Medicaid? The tine that seems to work well. Jenna uses pleased with the results we have had and Medicine Program may be able to help. Nizoral or Capitrol Shampoo and Head & hope our experience helps others. The Medicine Program helps patients, in Shoulders New Conditioner. She only uses Melissa J. Tierney-Osterloth cooperation with their doctor, to enroll in soap once or twice a week and that is the Wauwatosa, WI one or more of the many patient assistance plain white Dove bar. After her shower, programs that are now available from drug Jenna dries off a little bit and then applies manufacturers. These programs provide one of her two different creams. The one prescription medicine free-of-charge to we use most is a mixture of Lac-Hydrin people in need, regardless of age, if they Cream and Cutivate Cream. It really seems meet the sponsor’s criteria. For more infor- to keep her skin looking good most of the mation about The Medicine Program, or to day. When her skin is extremely dry we use request a free brochure or application, call a mixture of Lac-Hydrin Cream and 573-996-7300. Or go to www.themedi- Diprolene Cream. The nice thing about cineprogram.com. The Medicine Program these two mixtures is that my pharmacy requires a $5.00 processing fee for each fills our prescriptions in Rubbermaid con- medication requested. A full refund of the tainers that are easily cleaned and refilled. processing fee is available, upon written request, to any applicant who receives no God Bless!! medication and is determined to be ineligi- Melissa Gay ble for assistance. Cumberland, RI Tatum Tierney-Osterloth with little continued on page 13 Our two year-old daughter, Tatum, has sister Carter. 4 Ichthyosis Focus

How Much Do You Know about Ichthyosis?

The Foundation for Ichthyosis & TYPES OF ICHTHYOSIS inant inheritance and is seen more often in Related Skin Types represents people with Acquired Ichthyosis: Late, or adult onset, girls than in boys. 28 different forms of ichthyosis and ichthyosis can be caused by a variety of related skin diseases. In an effort to edu- conditions including: an underlying malig- Conradi-Hunermann Syndrome (x- cate our readers, and the general public, nancy, particularly lymphoma; drug ther- linked dominant chondrodysplasia we are providing a brief description of apy, particularly drugs given to lower punctata): Conradi-Hunermann those 28 skin types. The most descriptive serum cholesterol; endocrine abnormali- Syndrome affects infants and young chil- symptoms of each disease and how it is ties, especially hypothyroidism; nutritional dren and is characterized by facial abnor- inherited are outlined below. The various deficiency; and kidney failure. Dry flaky malities, mild-to-moderate growth defi- forms of ichthyosis and related skin types skin is also seen as a dose-dependent ciencies, large skin pores, and sparse but are inherited in one of several ways: side effect of oral retinoid (Accutane, coarse hair. Affected children have a short • Autosomal dominant: The gene for the Soriatane) therapy. Acquired ichthyosis is neck and a broad, flat nose. Large pores in disease is carried on one of the 22 not inherited; the symptoms are acquired the skin, resembling orange peel, may human chromosomes that do not deter- as a result of other conditions. occur on the body and scalp hair tends to mine sex, and is dominant over the be coarse and sparse. Dry skin lesions gene for normal skin. A person with Chanarin-Dorfman Syndrome (neutral may be present and may show mild scale one dominant gene for ichthyosis skin lipid storage disease): Chanarin-Dorfman or increased pigmentation in a linear or and one gene for normal skin will have Syndrome is a rare hereditary disorder of swirled pattern. Calcification of the ends ichthyosis skin. fat (lipid) metabolism. It is characterized of the long bones markedly slows growth • Autosomal recessive: The gene for the by moderately red, itchy, dry skin and in the arms and legs, and scoliosis (curva- disease is carried on one of the 22 other skin changes. Skin scaling is fine, ture of the spine) may occur even in human chromosomes that do not deter- white to gray in color, and involves all infancy. Buildup of fibrous tissue around mine sex, and is weaker than the gene skin surfaces. Large fat (lipid) droplets joints may limit mobility. Cataracts may for normal skin. A person with one appear in most white blood cells in the develop, and a small percentage of recessive gene for ichthyosis skin and bloodstream. Lipid droplets are also pres- patients may be mentally retarded. one gene for normal skin will have nor- ent in other cells, including skin cells and Conradi-Hunerman is believed to be mal skin. The person must inherit two the ducts of the sweat glands. Muscle caused by an x-linked dominant inheri- recessive genes for that person to have degeneration is also seen. Some people tance. It is almost always seen in girls. ichthyosis skin. with the disorder may have nerve deaf- • X-linked dominant: The gene for the ness, cataracts, and abnormally slow Congenital Ichthyosiform Erythroderma disease is carried on the X chromo- growth and development. Chanarin- (CIE): (Ichthyosis Congenita, Non-bullous some and is dominant over normal Dorfman Syndrome is passed on through CIE) CIE is characterized by generalized skin. The person with one X chromo- an autosomal recessive inheritance. abnormal red, dry, rough skin. Fine white some for ichthyosis skin and an X, or scales, that may be itchy, appear over most Y, chromosome for normal skin will CHILD Syndrome (unilateral hemidys- of the body. Skin on the palms of the hands have ichthyosis skin. plasia): Congenital Hemidysplasia with and the soles of the feet is abnormally • X-linked recessive: X-linked recessive Ichthyosiform erythroderma and Limb thick. Newborns are born as collodion traits are usually only found in males. Defects. Distinctively patterned red babies with a tight shiny membrane resem- Males with an X chromosome for patches of skin are seen covering one side bling plastic wrap completely covering the ichthyosis skin and a Y chromosome of the body, with a sharp line down the baby. The membrane cracks and peels over for normal skin will have ichthyosis. middle of the body between the normal the course of several weeks to reveal red, Females with one X chromosome for skin and ichthyosis skin. The entire half of dry skin. Ectropion and eclabium (pulling ichthyosis skin and one X chromosome the body may be involved, or segmental back and turning out of the eyelids and for normal skin will have normal skin. patches may be limited to one side of the lips) due to the tightness of the membrane Females are carriers for recessive X- body. Limb deformities are seen on the are sometimes seen. People with CIE have linked traits. same side of the body as the ichthyosis an increased susceptibility to skin infec- • Spontaneous mutation: A spontaneous skin. The organs on the affected side of tions and heat intolerance is common. mutation occurs during the process of the body tend to be underdeveloped or CIE is caused by an autosomal recessive cells splitting and differentiating in the develop incompletely. Finger and toenails inheritance. developing fetus. can be thick and deformed, and baldness can occur on the same side of the body as Darier’s Disease (keratosis follicularis, The incidence of the different forms of the ichthyosis. CHILD Syndrome is Darier-White): The onset of Darier’s ichthyosis varies, but all are considered thought to be caused by an X-linked dom- Disease is gradual, beginning with burn- rare diseases. ing and itching in the scalp, face, and Volume 21, No. 1 / Spring 2002 5

Types of Ichthyosis armpit areas, and extending to other parts cases have been traced to an autosomal through childhood with disease stabilizing of the body. Small spots of raised skin dominant inheritance, while the other fifty at puberty. EKV is caused by an autoso- appear, becoming larger and darker with percent are thought to be caused by a mal dominant inheritance. gray-brown scales or crusts. The enlarging spontaneous mutation. spots eventually come together to form Giroux-Barbeau Syndrome: In Giroux- larger patches. The patches can be foul- Erythrodkeratoderma Variabilis Barbeau the skin changes are similar to smelling because of bacterial growth (EKV): This condition is marked by two EKV but the reddened patches of skin under the skin. Nails can show ridging, types of skin changes. One is well-out- tend to disappear in the summer and dis- splits, and white or red streaks along the lined geographic (resembling a geographic appear completely in adulthood. After age length of the nail. Raised white spots can map), circular, or targeted patches of red- forty a progressive neurological disorder appear in the mouth. Patients often com- dened skin (erythema) that change shape appears involving a lack of coordination plain of severe itching. The inheritance of and position on the body from day to day. of the muscles, rapid involuntary eye Darier’s Disease is autosomal dominant. There may be thin white lines around the movement, speech disturbances, and lesions. The face, arms, legs, trunk and decreased reflexes. Giroux-Barbeau Epidermal Nevus Syndrome: (Ichthyosis buttocks are usually involved. The second Syndrome is thought to have an autosomal hystrix, Linear Epidermal Nevus skin change is thickened patches of skin dominant inheritance. Syndrome) The term epidermal nevus is with yellow-brown-gray scale. These areas applied to a variety of congenital (seen at are sharply outlined with irregular borders Hailey-Hailey Disease (benign familial birth) skin lesions characterized by raised and are usually fixed. These thickened pemphigus): Blisters that appear on the thickened patches of skin or wart-like yel- patches develop independently of the skin, break open and drain, creating sur- low brown lesions, sometimes accompa- shifting reddish lesions. Onset is typically face craters and erosions in the skin. nied by an underlying redness (erythema). in infancy, and there is progression Epidermal nevi may be small (solitary), widespread but confined to one side of the body, or widespread and covering both sides of the body. Other associated prob- lems can include mental retardation, seizures, skeletal deformities, and eye abnormalities. Epidermal Nevus Syndrome is a “mosaic” condition so the gene change does not occur in every cell of the body. It does not appear to be inherited.

Epidermolytic Hyperkeratosis (EHK): (Bullous Ichthyosis, Bullous Congenital Ichthyosiform Erythroderma (BCIE), Ichthyosis Bullosa of Siemens.) EHK is characterized by thick, blistery, warty hardening of the skin over most of the body, particularly in the skin creases over the joints. Scales tend to form in parallel rows of spines or ridges. The skin is frag- ile and blisters easily following injury. Babies are born with red, blistering, and denuded skin with areas of visible skin thickening. Over time there is a gradual decrease in blistering but an increase in the severity of the ichthyosis. Skin infec- tion with commonly found bacteria (Staphylococcus and Streptococcus) is a chronic problem. The teeth, hair and nails are normal but scalp involvement can be severe, resulting in hair loss. Heat intoler- ance is common. Fifty percent of known 6 Ichthyosis Focus

Types of Ichthyosis

These erosions develop in the neck, and in soles of the feet may be accentuated cracks and peels over the course of several the armpits, groin, and pelvic floor. (hyperlinear). Onset is usually after 6 weeks to reveal red, dry skin. Ectropion Blistering can also occur in the fold of the months of age, but may be earlier. and eclabium (pulling back and turning out elbow, on the scalp, arms and legs, below Ichthyosis vulgaris commonly improves of the eyelids and lips) due to the tightness the breasts and on the trunk. Onset is with age. It may also improve in summer of the membrane are sometimes seen. sometime after puberty, usually during the or a moist warm environment. Ichthyosis Problems with temperature regulation, person’s thirties and forties. Severity may vulgaris is fairly common with 1 in 250 water loss, secondary infections and sys- improve, stay the same, or worsen over people affected. It is an autosomal domi- temic infection can occur in the newborn time. Friction, heat, or injury can cause nant trait. with lamellar ichthyosis. In children and blister formation at any time. Over time, adults with lamellar ichthyosis the entire involved areas may show moist crusting, Keratosis Follicularis Spinulosa body is covered with broad, dark, plate-like or fine scaling and redness. Pain, itching, Decalvans: Flesh-colored, spiny, patches scales separated by deep cracks. They may and odor are frequent complaints. Hailey- of thickened skin develop on the face, also have reddened skin (erythroderma), Hailey is caused by an autosomal domi- trunk, arms and legs, usually in infancy thickened skin on the palms of the hands nant inheritance. and early childhood. Elbows, knees and and soles of the feet, thickened nails, and other joint surfaces are involved. Missing decreased sweating with heat intolerance. Harlequin Ichthyosis (harlequin fetus): eyebrows almost always occurs. Scarring Lamellar ichthyosis is caused by an autoso- The newborn child is covered with armor- alopecia (baldness) is typical. mal recessive inheritance. like plates of thick skin that crack and split Photophobia (light sensitivity) is also apart. The thick skin plates produce dis- common and is moderate to severe. There Multiple Sulfatase Deficiency: Multiple torted facial features and often deformities may be some improvement of the disease Sulfatase Deficiency is a very rare heredi- in other parts of the body. The chest and at puberty. The photophobia tends to tary metabolic disorder characterized by abdomen of the infant may be severely improve in adult life. Keratosis impairment of several sulfatase enzymes. constricted by the tightness of the skin, Follicularis Spinulosa Decalvans is caused Symptoms appear during the first or sec- making eating and breathing difficult. by an X-linked recessive inheritance. ond year of life. Speech and walking devel- Premature delivery is typical. Infants are at opment are abnormal. Other characteristics high risk for complication due to early KID Syndrome (keratitis, ichthyosis, include a depressed bridge of the nose, delivery, difficulty breathing, infection, deafness): There is a generalized thicken- large head circumference, deafness, a pro- low body temperature and/or dehydration. ing of the skin with small horny patches nounced funnel-shaped depression over the Harlequin ichthyosis is caused by an auto- that run together. The skin has been chest, spinal abnormalities, and ichthyosis. somal recessive inheritance. described as leather-like and grainy. Multiple Sulfatase Deficiency is caused by Changes are present at birth, or soon an autosomal recessive inheritance. Ichthyosis Hystrix Curth-Macklin Type: thereafter, and are progressive. Severity The clinical appearance of this disorder is ranges from marked to overwhelmingly Netherton’s Syndrome (ichthyosis lin- marked by patches of spiny thickened severe. Thickened patches of skin on the earis circumflexa): Netherton’s syndrome skin. The patches range from spotty to face, ears, elbows, knees and backs of is characterized by scaling of the skin in a generalized and severe. The palms, soles hands and feet may have a reddened base. distinctive circular pattern (ichthyosis lin- and face are generally not affected. The palms and soles are involved with earis circumflexa). Hair shafts are fragile Children with the disease usually show numerous horny spots on the fingertips. and break easily due to trichorrhexis skin changes within the first few weeks of Scalp hairs are usually sparse or absent, invaginata, or “bamboo hair”. Both skin life, and involvement appears to be pro- and eyelashes, eyebrows, and secondary and hair abnormalities are caused by the gressive. Ichthyosis Hystrix is caused by body hair are also sparse or absent. conversion of an abnormally large amount an autosomal dominant inheritance. Recurring bacterial and fungal infections of epidermal skin cells into dead cells of the skin are common, and scarring may (cornification). Another characteristic of Ichthyosis Vulgaris (Ichthyosis result. Neurosensory deafness is present at Netherton’s Syndrome is a predisposition Simplex): Ichthyosis vulgaris is character- birth and generally does not progress. to allergies, such as asthma, or food aller- ized by mild to moderate scaling with Hearing loss ranges from mild to pro- gies that can cause skin eruptions. fine, white, scales that adhere to the skin. found. Four-fifths of patients develop Netherton’s Syndrome can be diagnosed at The arms, legs, and trunk are usually inflammation of the cornea, which may birth by the presence of generalized red- affected. The face is usually spared, but lead to blindness. KID Syndrome is prob- ness of the skin, and, less commonly, by a cheeks and forehead may be involved. ably an autosomal dominant inheritance. parchment-like membrane (collodion Some patients also experience atopic der- baby) that can be peeled off the skin. matitis (itchy patches of skin) and kerato- Lamellar Ichthyosis: Lamellar ichthyosis Later, abnormal thickening of the outer sis pilaris (small horny spines of skin on is present at birth. The baby is covered by a layer of the skin occurs in combination the shoulders, arms and thighs). The tight shiny membrane (the collodion), that with shedding of the scales. This results in markings on the palms of the hands and resembles plastic wrap. The membrane circular reddish patches on the skin with Volume 21, No. 1 / Spring 2002 7

Types of Ichthyosis distinctive double-edged scales along the tinues to progress over weeks and months Rud’s Syndrome: Rud Syndrome is char- outlines of the patches. Netherton’s until most of the body is involved in a gen- acterized by ichthyosis and decreased func- Syndrome is caused by an autosomal eralized red scaly rash, distinguished by tional activity of the sexual organs, with recessive inheritance. “skip” areas or islands of normal unin- retardation of growth and sexual develop- volved skin, a marked, waxy thickening of ment. The ichthyosis is seen at birth or Pachyonychia Congenita: (Includes the palms of the hands and soles of the shortly after, and ranges from mild to Jadassohn-Lewandowsky and Jackson- feet, and roughened bumpy skin over the severe, most similar to x-linked ichthyosis, Lawler subtypes.) Pachyonychia Congenita hands, knees or elbows. The majority of or ichthyosis vulgaris. Rud’s Syndrome can (PC) is characterized by multiple cysts on adults with this classic form enter remis- be caused by two modes of inheritance, the skin, and, starting in childhood, finger- sion within three years. Children may also autosomal recessive or X-linked recessive. nails and toenails that are thickened, dark- develop PRP. Preschool children may ened, and easily crumble. Thickened skin develop a more localized form with Sjogren-Larsson Syndrome (SLS): on the palms of the hands and soles of the patches predominantly on the elbows and Sjogren-Larsson Syndrome is a rare form feet is common, as is excessive sweating knees. Most cases are acquired, but an of ichthyosis associated with other symp- of the hands and feet. The skin on the autosomal dominant form may exist. toms. The three primary symptoms are knees and elbows can be thickened and ichthyosis, mental retardation and spastic- spotty. Pachyonychia Congenita is caused Recessive X-linked Ichthyosis (steroid ity (spasms and tightening of the muscles). by an autosomal dominant inheritance. sulfatase deficiency): Symptoms usually The ichthyosis is present at birth or shortly begin between 1 and 3 weeks of age with after. At first glance it resembles lamellar Palmoplantar Keratodermas (PPK): development of large brownish scales that ichthyosis. Small, usually dark, scales (Various Forms) PPK is a general term are hard to get off. The neck, trunk, arms cover most of the body with an underlying referring to localized or widespread thick- and legs are usually involved, but the face, redness (erythema). The center of the face ening of the palms of the hands and soles scalp, palms and soles are usually spared. is usually spared and itching is common. of the feet. PPK may be a primary disorder Symptoms greatly improve in the summer Neurological symptoms are not seen at or part of a more widespread disease; pso- months. Clouding of the cornea occurs in birth but develop by about two years of riasis, pityriasis rubra pilaris, or lamellar approximately 50 percent of adult males age. Individuals with SLS typically ichthyosis. In the primary PPK’s the dis- with x-linked ichthyosis. Males may develop some degree of leg spasticity ease is more or less limited to the hands develop undescended testicles in rare resulting in difficulty or an inability to and feet. The thickened skin takes on a cases. Decreased estrogen production in walk, and mental retardation. The mental whitish yellow color with a sharp reddish mothers carrying affected children may retardation may range from mild to severe. border. Painful cracking of the skin can cause failure of labor to begin or progress. Most people with SLS have “glistening occur. Excessive sweating of the hands and The disease can be detected by amniocen- white dots” inside their eyes, although feet can also occur. PPK is caused by an tesis. X-linked ichthyosis is caused by an their vision is normal. SLS is caused by an autosomal dominant inheritance. X-linked recessive inheritance. autosomal recessive inheritance.

Peeling Skin Syndrome (familial contin- Refsum’s Disease (phytanic acid storage Tay’s Syndrome (trichothiodystropy, ual skin peeling, idiopathic deciduous disease): Refsum Disease is caused by a IBIDS Syndrome): Tay’s Syndrome is a skin): Peeling skin syndrome is character- rare defect in lipid metabolism due to an hereditary disorder characterized by red- ized by cycles of continuous shedding of inability to degrade phytanic acid, a fatty dened skin and ichthyosis, sparse and brit- the entire outer layer of the skin in sheets, acid created by the digestion of plant tle hair, delayed physical development, similar to the peeling following a sunburn. products. Refsum’s features failing night mental retardation and the look of prema- Reddened skin, itching, and seasonal vari- vision, retinitis pigmentosa, constricted ture old age. Reddened skin may be pres- ations are sometimes seen. The entire visual fields, neurosensory deafness, ent at birth, and the ichthyosis presents as body surface is involved and the peeling is peripheral nerve pain and inflammation, fine dark scales covering most of the accentuated by mild rubbing. A variant of diminished deep tendon reflexes, impaired body. The hair is sparse and brittle, and the disease is acral, largely involving the electrical impulses in the heart, and a finger and toenails are abnormal. Facial hands and feet. Peeling Skin Syndrome scaly skin resembling ichthyosis vulgaris. features include a beaked nose, receding is caused by an autosomal recessive inher- In most patients there is slow but contin- chin and protruding ears. Loss of fat itance. ual progression of the disease with symp- under the skin results in a prematurely toms starting to appear well after puberty. aged-looking face. Low birth weight, Pityriasis Rubra Pilaris (PRP): PRP The first sign may be failing night vision. short stature, and mental retardation are appears to come in several forms and its The features of Refsum’s Disease involv- typical. Underdeveloped genitals may be classification is confusing even to the ing the skin are a light color scaling with seen in males and females. Tay’s experts. The most common form begins in a wrinkled appearance, and accentuated Syndrome is caused by an autosomal the adult years, usually starting as focal creases in the palms of the hands. recessive inheritance. red, scaly, bumps and patches, often on the Refsum’s Disease is caused by an autoso- scalp and upper body. PRP typically con- mal recessive inheritance. 8 Ichthyosis Focus

Correspondence Corner continued from page 1 Foundation Notes Dates are Set for Summer Camp Fun Greetings from Bermuda! This is Cindy Ashton. We The dates for the American Academy of Dermatology Camps are set have been members of F.I.R.S.T. for quite a few years. for the summer of 2002: Our daughter, Laura, was born with lamellar ichthyosis. Camp Discovery, Crosslake, Michigan - July 6 to July 13, ages 10 to 13. She has gained so much by meeting people at your Camp Discovery, Crosslake, Michigan - July 27 to August 2, Teen Camp conferences. We have been attending conferences Camp Horizon, Millville, Pennsylvania - August 11 to August 17, since she was four, but missed the one in Chicago. Our ages 8 to 13. thought has always been that the three of us would All campers receive full tuition and transportation scholarships benefit each and every time we met with you and the through the generous contributions of The American Academy of F.I.R.S.T. members. Laura was 14 at the last confer- Dermatology members, corporations, individuals, and organizations. ence in Philadelphia. We told her that this was her con- Referrals for campers must come from a dermatologist. If you would like ference and her opportunity to be bold, to meet other to attend Camp Discovery, please contact your dermatologist. For more teens, and to discuss what was really on their minds. information about Camp Discovery, call the American Academy of We took a back seat and she went full steam ahead. Dermatology at 847-330-0230.

We are planning to attend the next conference in Seattle. Volunteer Recognition We have heard about it through the grapevine and are Volunteer recognition is an important part of F.I.R.S.T. Family anxiously waiting for our latest newsletter. Laura has also Conferences. Grassroots fundraising, education and awareness activities, been attending the summer camps sponsored by the volunteer leadership, and dedication to the foundation and its mission are AAD. These are all such positive experiences. Laura met recognized in deserving volunteers from the past year and the current year. a young man at last summer’s camp and she has been If you would like to nominate a deserving volunteer, or if you have telling him about the conference. She asked me if you contributed to promoting or supporting the foundation and its mission and might be able to send him and his family a newsletter would like to tell us about it, contact the national office, 1-800-545-3286. with information in regard to the upcoming conference. We want to acknowledge everyone’s contributions.

Thank you so much and we all look forward to seeing Peyton Weary Receives Award you in July! Dr. Peyton Weary, F.I.R.S.T. Board of Directors member, is being awarded the American Skin Most sincerely, Association’s award for Distinguished Cindy Ashton, David and Laura Contributions to Public Policy. Dr. Weary was Paget, Bermuda chosen for this award for four decades of contribu- tions in public policy to increase support for research in skin health and for his efforts to raise My name is Alexandra. I’m 34 years old and I’m from public awareness of skin cancer. He is the first South Germany. I have had ichthyosis since my childhood. recipient of this award. Now, at this time of year when the weather is cold and dry, it is the worst. When I undress it is ‘snowing’ scales. To treat my skin I spend the holidays every year at the sea. Congratulations Sun, salt water and the warm climate are the best for my Congratulations are in order for The Foundation For Ichthyosis Board skin. The last three years, I have spent a week to ten days Member, Beth Gray, and her family. Michael Paul joined the family this in Israel at the Dead Sea. The climate there is the best. I’m winter. Michael is the fifth child for the Grays. We wish the whole Gray looking forward to next year when I will go to Israel again. family well and welcome Michael to The Foundation for Ichthyosis family. And when I come back, I will have “normal” skin like other people. It is the time I am most beautiful all year. Jane Bukaty Membership Assistance Fund The Jane Bukaty Membership Assistance Fund has been established to Bye, bye, Alexandra Kuhn, Germany help members of F.I.R.S.T. with financial support for expenses involved in the care of ichthyosis. The Support Network & Membership Assistance Committee awarded three members funds from this program during the If anyone is interested in carpooling to the F.I.R.S.T. last round of applications. Applications are now being accepted for the Family Conference in July from the Salem/Portland, fourth cycle of considerations. The application process is simple. Oregon area, please contact Leanne Skokan at 503- Complete an application form and send it in! The form is available in the 769-9694, or email [email protected]. “Members Only” section on our website, www.scalyskin.org, or one can be mailed to you at your request. Call the national office at 800.545.3286. Thanks, The deadline for applications is June 30, 2002. Leanne Skokanxxx Portland, OR In general, the goal in taking care of “ ichthyosis is to hydrate (moisturize) the skin, hold in the moisture, and * keep scale thickness to a minimum . *Foundation for Ichthyosis & Related Skin Types, http://www.scalyskin.org ”

Aquaphor ® Healing Ointment helps heal dry skin associated with ichthyosis. Its unique petrolatum- based formulation combines a moist environment with the benefits of a semi-occlusive barrier that allows skin to breathe and absorb fluids. Aquaphor is ideal for daily use because it is hypoallergenic, non-comedogenic, fragrance and preservative-free. Aquaphor Healing Ointment is safe enough for even the most sensitive skin. Special Offer For Readers of this F.I.R.S.T. Newsletter

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Consumer: Coupon good on the purchase of any Aquaphor ® Product, no trial sizes. Limit one coupon per item purchased. Any other use constitutes fraud. Not good with any Save $2.00 other special offer. Consumer must pay sales tax. Retailer:You are authorized to act as our agent to redeem this coupon and we shall reimburse you at face value plus 8¢ handling on any in accordance with our redemption policy. Cash value 1/100¢. Copies available upon request. Offer void if copied and where ® prohibited, taxed or otherwise restricted. Mail to: Beiersdorf Inc, Aquaphor PO Box 880504, El Paso,TX 88588-0504. Good only in USA. Product

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© 2000 Beiersdorf Inc 10 Ichthyosis Focus Executive Director’s Report

Dear Friends: April 30, 2001 I am pleased to present the annual report for fiscal year 2001. The Dear F.I.R.S.T. members: statement of financial position outlines the financial growth of the foun- Fiscal year 2001 marked the 20th dation for the past two years. anniversary of the founding of the Since its creation in 1981, the Foundation for Ichthyosis & Related Skin Foundation for Ichthyosis & Related Skin Types (F.I.R.S.T.), formerly the Types, a mission-driven organization, has provided support and services to National Ichthyosis Foundation individuals and families affected with ichthyosis. As the Foundation enters (N.I.F.). The foundation continues to its third decade with committed leadership, capable staff, dedicated volun- grow in membership and services, pro- viding information, education, advo- teers, growing membership and increasing financial stability, it is even cacy and support to individuals and more dedicated to the basic principle of support and service to its members. families affected by ichthyosis. Elizabeth A. Gray This guiding principle is the underlying basis for which all programs, serv- Beiersdorf once again provided funding for the Ichthyosis Support Network (ISN) as well as ices and future plans are based. other program-related activities. One hundred sixty-nine members volunteer as part of the ISN, which links families Sincerely yours, all over the country with other families who share similar experiences involving ichthyosis. Through the financial support of NeoStrata, the Foundation also funded a $20,000 research grant to Karima Djabali, Ph.D. of Columbia University. Dr. Djabali’s project Jean R. Pickford on The Genetics of Woolly Hair and Keratoderma (Naxos Executive Director Disease) marks another step towards better treatments and, ultimately, a cure for ichthyosis. Other noteworthy accomplishments in fiscal 2001 include a one-day regional conference in the Houston area attended 2002 Board of Directors by 68 families, the awards of several financial assistance grants from The Jane Bukaty Membership Assistance Fund, Laura Phillips, President Daniel J. Siegel, Esq. and major improvements to the Foundation’s web site, gener- Cleveland, OH General Counsel Philadelphia, PA ously hosted by Accurate Imaging. When you have a few Leonard Milstone, MD minutes, be sure to check out the new features and informa- Vice President Rita Tanis tion available at www.scalyskin.org. New Haven, CT Fairfield, CT The Foundation is fortunate to have a highly dedicated Tiffany Karst, Secretary Peyton Weary, MD and hard-working staff making the most of your donations Shawnee, KS Charlottesville, VA and I am pleased to announce that, even with all of these accomplishments, the Foundation’s net assets increased by Elizabeth Gray, CFO Mary Williams, MD 70% during this past fiscal year. This increase is due to sev- Elkhorn, NE San Francisco, CA eral factors. Thanks to the generosity of all of our members Michael Dunleavy and friends, the holiday appeal and grassroots fund raising Philadelphia, PA revenues exceeded projected goals. Letter writing campaigns STAFF by the Board of Directors and Medical Advisory Board Philip Fleckman, MD Seattle, WA Jean Pickford brought in over $10,000 in new funding. In addition, The Executive Director Foundation received several significant donations from long- Louis Giuliana time members and corporate donors. With our strategic plan- Bensalem, PA Maureen Tierney ning process almost complete, this crucial increase in net Program Director Gloria Graham, MD assets couldn’t come at a better time. Winston-Salem, NC Kelly Strother I appreciate the opportunity to serve all of you and hope Administrative Assistant that you are as proud of the Foundation’s achievements as I am. Donna Rice Katy, TX Sincerely,

Elizabeth A. Gray CFO, Board of Directors Volume 21, No. 1 / Spring 2002 11 2001 Contributor’s List

Dover Intermediate School Jacobsmeyer Cindy Lin $100 - $249 Lucinda Dudley Lori Jones Irving Lobron In memory of Mary Benak Julie Dunipace Robert & Patricia Jones Sandra Lozier In memory of James Haluska James O. Ertle Anthony Jordan Nancy Mantel Dr. & Mrs. Harvey Adams Nancy Esterly, M.D. Paul Kelley Jennie Maresca Ann Alexander George & Shirley Falconi Ho Jin Kim, M.D. Leslie Mark, M.D. George & Marilyn Allison Anthony Fera Jack E. King Gail Markopoulos Joan Alnor Mary Fitzpatrick Donald Klema Gerald Marquardt Carl & Shirley Anderson Jeannette Foxe Edward Klopp Thomas & Deepa Matthews Les Avakian Michael Franzblau, M.D. John & Cynthia Kohl, III Joel Maurer Robert & Donna Averill Duane & Tomi Friddle Helen Kozinski Richard Maurer Lisa M. Bachand Tom & Carol Frost Gary Kuipers Charles K. Maxey Linda Balog Capt. Joseph Galluccio Justine La Femina Agenia McCarthy John & Cynnie Bates William F. Geismann Laurence & Laura Leary Jennifer McNiff Elizabeth Bates-Freed GeneDx Inc Lance & Cynthia Lesher Bunker & Teresa Medberry Joseph Beeler Larry & Suzanne Getz Ken & Elena Levitan Diane K. Mencia John Bellucci Shari Gilevich Gaetano & Mary Licursi Judy Messer Marc & Denise Benedetto Charles Gilfillan Reba C. Benson Barbara Gill Dianna Berg Give me a Break Elwood Bernstiel Ann Pokalsky & Theodore Jim & Donna Bernstiel Glowacky Paula Bevilaqua, M.D. Lowell Goldsmith, M.D. Gary Bierwagen Pilar Goyarzu Margaret Boas Mr. & Mrs. Robert Grafrath Cecile Bogan Susan Granados John Bratton, Jr. Charlotte E. Gregory Andrea Bridgeman Helen R. Griffin James & Fran Brokmeyer Arnold Gurevitch, M.D. Butch & Janet Bruner Doug & Barbara Hallett John Burton Geoffrey Hamill, R.N. Richard Butler Robert L. Hanks Joseph Cardinal William & Linda Hatfield Joseph & Mary Catanzaro Ray & Margaret Haywood Rebecca Cecconi Eleanor Hertzog Christine Chan Tim & Melissa Hickey Leslie Chapin Stephen Hillesheim Joseph & Julianne Ciolino Ms. Frances A. Hiner Tom & Carol Clinkscales David & Pamela Hines Pamela Cohan Renee Howard Collette Vacations Michael & Alice Hricak Brian & Joyce Conneely Dr. & Mrs. Harold Hudson John & Jean Cox Paul & Janice Hudson Michael H. Cronin Catherine D. Hutchinson * This Statement of Financial Position is excerpted from the Luc DeBatselier Johnsonburg Rotary Club Foundation's audited financial statements as of September 30, Grace Detloff Erling E. & Margaret Jacobsen 2001. A complete copy of the audited financial statements and Billie Donati Jerome & Kathryn the independent auditors' report are available and can be obtained by calling the national office at 215-631-1411. 12 Ichthyosis Focus

Laurence Miller Scott Sorensen Coalition of Patient Advocates Rod Hoover Karen Montevideo Norberto Soto for Skin Disease Research International Merchandising John & Jacqueline Anthony Sperduto Richard & April Cobb Group Montgomery Joel Spitz, M.D. Jessie Doyle Deely Juvenir Biosciences Kathleen Moran Marian M. Stanton Philip Fleckman, M.D. Herman & Joyce Karst Richard Morro Marvin Stark Karoline Freed-Biggs Joe & Chris LaBarbera Richard & Joan Murphy Larry & Brenda Staton Highland High School Melissa Osterloth Barbara Myers Peter Steinert, Ph.D. Dona Hoar Jean Peters Patti Napoli Stiefel Foundation Kurt & Susan Hoffman Chris & Laura Phillips Dennis & Joan Neaton Janese M. Stimmel Donna Jaffe Paula D. Rivers Newlex Communications, Inc. Summers Laboratories Carey Kell Virginia Scully David & Nancy Noe John A. Talkington Robert Kukla Easton B. Smith Emilio & Susan Nunez Rita K. Tanis Arthur Lavery Spear, Leeds & Kellogg Herdis Olson Sue Tiffany Alan & Jennifer Leblang Duane Osterloth Debra Traina Meg A. Lemon, M.D. $1000 - $4999 Maryann O’Toole Charles & Jackie Treat John & Agenia McCarthy In memory of Janine Giuliana Gary & Phyllis Parsons Sam & Janice Unurh, Jr. Thomas McClune In memory of Bill Robertson Don & Leslie Patterson Martha Van Zile Grace McMillian Aubrey Organics Stanley & Anne Perzanowski Irene Velasquez Terry Melton BP Amoco Pfizer Foundation Margaret Vernet National Center for Nonprofit Henry J. Bukaty Ms. Theresa J. Phaneuf Verizon Boards Greg Dalton Michael Pinnisi Karen Vigeland, M.D. Jennifer Nichols Dermik Labs Carrol Ann Pletcher Valerie F. Vitali Robert O’Connor, Jr. Dermal Therapy Research Inc. Mary Alice Ponzo Charles & Judy Wagner Osmotics Corporation Human Race-Volunteer Judith Prichard Eileen N. Wagner David & Anna Purcell Exchange Alan Prince Julie Warhman, M.D. Victor & Donna Rice Joe & Dawn Johnson Susan Purcell F. Davis Weaver Franziska Ringpfeil Tiffany Karst Dr. Robert Rhea Gerald W. Webb Jerry Roth, M.D. Kimberly Maurer Jack & Catherine Rice Dale & Diane Wedel Aletha Shipman Paul & Jean Meeker Gabriele Richard, M.D. Claudine Westra Elliot & Phyllis Shulman Dr. & Mrs. Leonard Milstone Richard Rival Diane White Dan Siegel National Semiconductor William B. Rizzo, M.D. David Whiting, M.D. Denise M. Yong Tim & Marcia Ohlwiler Linda Rogers Elizabeth Whitmore Eustolia Perez Frederick Rothman, M.D. Barbara Williams $500 - $999 Nicholas Perricone Dr. & Mrs. Manfred Rothstein Paul & Carol Williams In memory of Gerald Kamcza James & Elza Phillips Roy O’Brien Ford Judith Williams, M.D. In memory of Clair Sulkey Tracie Pretak Nancy M. Rusin Richard Wolf Aid Association for Lutherans John A. Schaeffer Stephanie Sawyer-Ames Mr. & Mrs. Michael L. Beiersdorf Janet Showers-Patterson Richard Scher, M.D. Workman Dr. & Mrs. Wilmer Betts Judy Van der Wielen Jeff Schiller Arnold L. Zimmerman Frances Blankis Eugene Van Scott, M.D. Kathryn Schiller Marilyn Zinn Diana Clifton Mary Williams M.D. Ramona Schiller Eric Zugerman Dermablend John J. Schoendorf Patricia Zak Michael Dunleavy $10,000 - $19,999 Joyce Schram Schuyler & Denise Eastin Roche Dermatologics Eric Schweighoffer $250 - $499 Ernest Paper Products Dr. & Mrs. Peyton Weary Alan Shalita, M.D. In memory of Theresa Napoli Floyd & Agnes Evans Kathleen M. Shanahan 50-Degree Company Ferndale Laboratories $20,000 + Christopher & Lisa Short Harry & Lynne Alba Linette Finstad Neostrata Karon Shouse Robert & Nancy Ash Gateway Woman’s Club Nanette Silverberg Robert Bialer Johnson & Johnson CPI Merle & Mary Smith Darlene Blackwell Patrick Hansen Linda J. Snow-George Robert & Debra Bowie Sandra Harris Volume 21, No. 1 / Spring 2002 13 ASK THE READERS: What Do You Do? Dear Reader’s: The “Ask the Readers” column was designed as a forum for our members to share effective solutions to some of the challenges of having ichthyosis. Lately we have had very few responses to the column. We would really like to hear from you; you are the Foundation’s best resource for information and solutions. If it seems that this column is not of interest to our readers, we may make the space available for other information. Please let us know how you feel. Sincerely, Jean and Maureen

How have you and your child’s school personnel partnered together to provide adequate time and resources for your child’s ichthyosis?

My daughter Jenna is eight years old and was born with a What’s New, What’s Hot and type of ichthyosis still unknown to us. Her condition is a very mild form, although it is extreme enough to need daily show- What Works ers and a ton of lotioning, and a lot of extra love with hugs continued from page 3 and kisses daily. She of course carries lotions with her always, Soaring Words even to school. Soaringwords.org is the healing place for millions of This past summer my mom recommended that we look sick children and their families to reach out to each other. into getting an air conditioner put in Jenna’s classroom. Here Soaringwords is an interactive web-based community and in New England, September, May, and June can be quite non-profit 501 (c) 3 organization. Soaringwords.org is not warm. After many phone calls, and a detailed letter from her medical or clinical in nature, but rather an inspirational doctor, she now has one in her classroom window! It will stay online environment to foster caring, empathy, hope and with her the next three years as she completes elementary understanding as kids connect with other kids and parents school. We will arrange the same accommodations as she connect with other parents. The Soaringwords.org website enters middle school. It totally reassures me while at work to offers healing word stories, activities, live chats and online know that she is not overheating in class. We also have an events, music and photos. agreement with the school nurse and teachers that if it’s over 70 degrees outside, she stays in for recess and is allowed to Rare Diseases Office choose a friend to stay with her. Jenna loves this as it makes Congress recently increased the funding for the NIH her feel special. And our children are special just as is every Office for Rare Diseases to $10,341.00. Funding for the child in this world! Office had stagnated at approximately $2 million per I would like to take a minute and sincerely thank F.I.R.S.T. year, so this five-fold increase is a reflection of the let- It is so nice to have such a dedicated group of people and doc- ters, phone calls, and visits of National Organization for tors always on hand to answer questions, and just be there Rare Diseases (NORD) members to their federal elected when you need them. It has really helped to belong to this officials asking for money for the Office of Rare wonderful organization. Diseases. NORD asked Congress to appropriate $24 mil- God Bless!!! Melissa Gay, Cumberland, RI lion for the Office of Rare Diseases. A bill is currently pending before Congress (The Rare Diseases Act, S.1379) which will make the NIH Office for Rare Here’s our next question: Diseases permanent by writing it into law and to appro- priate $24 million to the office next year. The National Organization for Rare Diseases urges everyone with a “What strategies have you and your doctor found helpful concern about rare diseases to continue communicating in getting your health insurance provider to cover some or with federal Representatives and Senators to educate all of the cost of your ichthyosis treatments?” them about the need for more rare diseases funding at the NIH and FDA and to support S.1379. Senator Send us your comments. We will print the responses Edward Kennedy (D-MA) sponsored The Rare Diseases in the next newsletter. Here’s how to contact us: Act (S.1379). The following senators have already E-mail: [email protected] cosponsored the bill: Senators Jeff Bingham (D-NM), Fax: 215.631.1413 Hillary Rodham Clinton (D-NY), Susan M. Collins Call: 800.545.3286 (R-ME), Richard Durbin (D-IL), Orrin Hatch (R-UT), Write: 650 N. Cannon Avenue, Ernest Hollings (D-SC), James Jeffords (I-VT), John Suite 17, Lansdale, PA 19446 Kerry (D-MA), and Gordon Smith (R-OR). 14 Ichthyosis Focus

Room Reservations Call 800.643.5479 to make your room reserva- 2002 Conference Program tions. F.I.R.S.T.’s discounted price is $89.00 + applicable taxes per room, flat occupancy. Be sure A Family Affair: Caring, Sharing & Support to mention this group rate is reserved under Foundation for Ichthyosis. The deadline for room (subject to change) reservations is June 13, 2002. This rate is avail- ADULTS TEENS able from June 30 to July 9, 2002 if you are plan- (AGES 18 AND OVER) (AGES 13 – 17) ning an extended stay. Friday Friday Airport Shuttle Registration Registration There is a free shuttle from the Seattle-Tacoma Dinner on your Own Dinner on your Own Airport to the Seattle Marriott Sea-Tac. The shut- Reception Reception tle runs every fifteen minutes and pick-up is on * State of the Foundation * State of the Foundation the third floor parking structure. Stop at the * Registry for Ichthyosis & Related * Registry for Ichthyosis & Related Information desk in the airport for more details. Disorders Disorders Saturday Saturday Airline Transportation Opening Remarks Opening Remarks The following three airlines have an agreement Resourcing: The Mind, Body, Spirit Resourcing: The Mind, Body, Spirit with the Foundation for Ichthyosis to offer dis- Connection Connection count tickets on round trip airfares to the 2002 Family Conference: Breakouts: Healthy Choices in a Fast Food World Ask the Doc’s, Pediatric Concerns Career Panel Discussion US Airways is offering discounted round trip Ask the Doc’s, Adult Concerns Teen Talk/Doctor Talk flights from June 30, to July 12, 2002. Importance of Family Sunday • Call US Airways Group and Meeting Clinical Screening (appts. only) What’s New in Research Reservations, 877.874.7687. Moms’ Discussion Coping with Social Challenges •8:00 a.m. to 9:30 p.m. EST. Dads’ Discussion Simple Strategies for Personal Safety • Refer to Gold File Number 38632202. Womens’ Discussion Moments of Grace: Courage in the Delta Airlines is offering discounted round trip Mens’ Discussion Face of Change tickets from July 2, to July 10, 2002. Open Session(s) TWEENS • Call Delta Meeting Network Reservations at * Make-Up Techniques 1.800.241.6760. * Mini Massage (AGES 9 – 12) •Monday - Sunday, 8:00 a.m. to 11:00 p.m., EST. Sunday Friday • Refer to file number 182733A. What’s New in Research Registration Northwest/KLM/Continental is offering discounted Moments of Grace: Courage in the Dinner on your Own tickets from July 2, 2002, to July 10, 2002. Face of Change Reception • Call Meeting Services Reservations Desk at Breakouts: * State of the Foundation 1.800.328.1111. ISN Sign-Up & Training * Registry for Ichthyosis & Related •Monday - Friday, 7:30 a.m. to 7:30 p.m., CT. Treatment Options Disorders • Refer to WorldFile Number NMWE6. How to Support Your Kids Through a Saturday Medical Procedure Opening Remarks Discounts range from 5% to 7% off published Info Sharing/Helpful Hints Resourcing: The Mind, Body, Spirit fares and 10% off tickets purchased 60 days in CHILDREN Connection advance. Additional discounts may be available. Creative Outlets for Personal Certain rules and restrictions apply. (AGES 8 AND UNDER) Expression Saturday & Sunday Healthy Choices in a Fast Food World Angel Flight America Program Free child care and activities Tween Talk/Doctor Talk You may be eligible for free airfare using the Angel Flight America Program, through the provided by PANDA Dial-A-Sitter Sunday National Patient Travel Center. If you live within What’s New in Research CLINICAL SCREENING 1000 miles of Seattle, Angel Flight will fly a fam- Simple Strategies for Personal Safety A Clinical Screening will be available ily in a 4-seater or 6-seater plane to the confer- Coping with Social Challenges to all affected individuals. Physicians ence at no cost. Contact the National Patient Moments of Grace: Courage in the who specialize in ichthyosis will be Travel Center at 888.675.1405 and refer to the Face of Change available for one-on-one consultation. 2002 F.I.R.S.T. Family Conference Special Lift Screening appointments can be made ** The Conference begins with regis- Program. If you live outside the 1000 mile limit, on Friday, July 5 at the registration tration on Friday, July 6, from 3 to 5 they suggest you use www.expedia.com or table. p.m. and wraps up on Sunday, July 7, www.orbitz.com to shop for the cheapest tickets at 12 Noon. and order online. Volume 21, No. 1 / Spring 2002 15 2002 Family Conference Registration Form

Name: ______Address: ______City: ______State: ______Zip: ______Country:______Phone (day): ______(evening): ______Email:______

Registration Deadline by June 14, 2002 • Please make all checks payable to F.I.R.S.T. •F.I.R.S.T. also accepts Mastercard, Visa, and American Express. Adults (age 18 & over) – $70.00 Please provide type of card, account number, expiration date, and Child (age 17 & under) – $35.00 billing address for credit card.

Name ■ Adult ■ Teen ■ Tween ■ Childcare Age Type of ichthyosis 18 & over age 13-17 age 9-12 age 8 & under ______

Name ■ Adult ■ Teen ■ Tween ■ Childcaree Age Type of ichthyosis ______

Name ■ Adult ■ Teen ■ Tween ■ Childcare Age Type of ichthyosis ______

Name ■ Adult ■ Teen ■ Tween ■ Childcare Age Type of ichthyosis ______

Name ■ Adult ■ Teen ■ Tween ■ Childcare Age Type of ichthyosis ______

■ Yes, F.I.R.S.T. may include our name and contact information in a conference roster to be distributed to conference attendees.

■ Yes, F.I.R.S.T. may include the type of ichthyosis that affects our family on our nametags.

■ Yes, I (we) will attend the 3-hour bus tour of Seattle on Sunday, July 7 after the conference. The bus will leave the hotel lobby at 2:00 p.m. and return around 5:00 p.m. Each ticket is $10.00 per person. Your seat will be reserved when payment is received.

Number of adults ______x $70 per person = ______(18 & older) Number of children: ______x $35 per person = ______(1 through 17)* Number of individuals attending Seattle Tour ______x $10 per person = ______

Grand Total = ______

• Please return registration fees with completed form to Jean Pickford, F.I.R.S.T., 650 N. Cannon Avenue, Suite 17, Lansdale, PA 19446. Kindly make checks payable to F.I.R.S.T. in US funds. • Cancellations will be honored with full refunds until Advance Registration Date of Friday, June 14, 2002. * There is no registration fee for children under one year of age FightFight withwith Epilyt® Lotion Concentrate

Loosens and removes scales* Softens and smooths rough, dry, scaly skin* Non-greasy, clear, moisturizing lotion Controls severely dry skin

Please bring this ad to your Pharmacist who will order Epilyt® (NDC 0145-0624-04), for you through one of the following Pharmaceutical wholesalers. Distributor Item Number AmeriSource 3433877 ® Bergen Brunswig 520-601 Cardinal 1412212 McKesson 1102151 Research in Dermatology Epilyt® is also available for purchase online at www.webderm.com *Baden HP Management of Scaly Skin with Epilyt. Seminars in Dermatology 6:55-57, March 1987. Epilyt® Lotion and Stiefel® are registered trademarks of Stiefel Laboratories, Inc. ©Copyright 2002. Stiefel Laboratories, Inc. Please visit us at www.stiefel.com

Please help us to minimize our printing costs. Call us at 1-800-545-3286 if you do not wish to receive any future issues of Ichthyosis Focus. Help F.I.R.S.T. reduce its postage costs – would you be willing to accept the Focus Newsletter via e-mail? Let us know.

F.I.R.S.T. 650 Cannon Ave. Non-Profit Org. U.S. Postage Suite 17 PAID Lansdale, PA 19446 Sayre, PA Permit No. 224