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ICHTHYOSIS FOCUS Vol ICHTHYOSIS FOCUS Vol. 20, No. 1 A Quarterly Journal for Friends of F.I.R.S.T. Spring 2001 An Ichthyosis Update – Part II This is adapted from a talk given by Dr. Mary L. Williams at the Academy of Dermatology Annual Meeting in San Francisco in March, 2000 and edited by Rita Tanis. Genetic Heterogeneity Confusing enough? I find refuge in the nized. At least 3 genetic loci have been limited personal experience, and corrobo- “Rule of Heterogeneity”: When in Las implicated in causing these disorders, rated by others1, the classic lamellar Vegas, put your money on heterogeneity of using genetic linkage analysis, although ichthyosis (LI) phenotype with large genotypes (specific gene mutations) and only one gene, encoding the enzyme, ker- plate-like scales is typically associated phenotypes (how the gene is expressed; its atinocyte transglutaminase 1, has been with transglutaminase mutations, while clinical features). Corrollary 1 to the rule identified to date. This enzyme is unique to the nonbullous congenital ichthyosiform is: multiple genes may be found to produce epidermis, hence the skin is only abnormal erythroderma (CIE) phenotype with a a common phenotype. Corollary 2 is: mul- in these patients. The enzyme is involved finer, lighter scale pattern is not. tiple phenotypes will be associated with in crosslinking proteins, such as loricrin, to However, others have reported no correla- mutations affecting a single gene. form the cornified envelope. The cornified tion between TG1 mutations and CIE or The lamellar ichthyosis group of auto- envelope forms a shell that surrounds the LI phenotypes2, and the final word is not somal recessive, primary ichthyosis is an cells of the outer skin layers. The cornified yet in. If we invoke the rule of hetero- example of heterogeneity. The nomencla- envelope, together with the keratin fila- geneity, we would predict at least some ture of this group remains confusing. Some ments within the interior of these cells, is overlap of phenotypes in association with US authorities lump these together under a responsible for the mechanical strength of transglutaminase mutations. single name, lamellar ichthyosis, while oth- the outer skin layers. ers subdivide into two phenotypes, lamel- Patients in this group also show con- Improved Diagnosis: lar ichthyosis and nonbullous congenital siderable clinical heterogeneity, but to Netherton syndrome is characterized ichthyosiform erythroderma (CIE); and date efforts to sort out the phenotypes by ichthyosis, structurally weak hairs that in Europe they are grouped as ichthyosis with and without transglutaminase muta- easily break, and atopy (the tendency to be congenita, with at least 4 subtypes recog- tions have been conflicting. In my rather continued on page 11 F.I.R.S.T. Proudly Family Conference Celebrates our Mark Your Calendars! 20th Anniversary Family conferences are a great way to meet other people whose lives are affected by ichthyosis. Regional Family 2002 National Family Thank you to our friends and supporters for Conference Conference helping us reach this important milestone. Please be April 7, 2001 in Houston, The National Family Conference assured that F.I.R.S.T. will continue to do its best to TX (see back cover for will be held in Seattle, Washington earn your continued confidence and generous sup- details on how to register!) during the summer of 2002. Stay port. It is our hope that our relationship with you tuned for more details and start will continue for many years to come. See pages planning now so you can join us! 8 and 9 for a timeline of important events in our 20 year history. 2 Ichthyosis Focus Ichthyosis Focus Correspondence Corner Vol. 20, No. 1 Spring 2001 Copyright © 2001 by F.I.R.S.T. Editor, Dear F.I.R.S.T., I was born in Trenton, NJ on January 16, 1918, so my 83rd Ichthyosis Focus is published The latest issue of Ichthyosis birthday has just arrived! Efforts to help my ichthyosis vul- quarterly by the Foundation Focus (Vol 19, No. 4) was by far for Ichthyosis & Related Skin the best issue ever published. garis began with my dad taking buckets of ocean water and Types (F.I.R.S.T.) traveling 50 miles back to my home in Trenton. He thought The article by Dr. Mary L. Williams the ocean water made it better. The truth was that the hot Request to reprint information was meaty and informative. It was summer weather perspiration made it appear normal. My contained in Ichthyosis Focus a treat to hear about the topic of own first efforts to find a solution to my problem began with should be directed to the editor. ichthyosis directly from an experi- a trip to visit some doctors at Columbia University. I was told enced physician, in the Focus. to rub clear vaseline on it, which did not help. Ten years ago, F.I.R.S.T. 650 N. Cannon Avenue Please keep this in mind for future a now retired dermatologist at the Medical College of Ohio, Suite 17 issues, perhaps with other authors. had me try a prescription of 12% Lac Hydrin. You can get an Lansdale, PA 19446 I do look forward to the remainder over-the-counter bottle of 4% Lac Hydrin. After six weeks I of her talk in the next issue, and it could see how wonderful it worked and made my skin look 215.631.1411 is just too bad we couldn’t get all normal. Ten years of daily use of 12% Lac Hydrin has led 800.545.3286 of it out in one issue. me to the following procedure that I would like to share with 215.631.1413 fax you. Doctors said take only one shower a week but after email - [email protected] In addition to that, I was happy to www.scalyskin.org extensive reading, I discovered that idea was wrong. I now see that three people wrote letters shower daily, and after a quick toweling, I apply 12% Lac Editor to the Focus editor this issue. Do Hydrin on my legs, arms and a dab on my back. Next I take Jean Pickford you think folks realize how much a three foot piece of rope, or line, with a knot at each end. I the readers love hearing their put the 12% Lac Hydrin in my hands and rub it on the full Medical Editor comments, stories, questions, and length of the rope. Then I take the rope and rub it up and Amy Paller, M.D. suggestions? down my back. This picks up the dab that I had placed on my back earlier. This process gets the 12% Lac Hydrin all Science Writer Although I am settled into my treat- over my back where I could not reach. Then I dress for Betsy Bates-Freed ment regimes and don’t so much whatever (3 hours of daily exercise and guitar playing). My need the “Ask the Readers” section, Editorial Assistant skin gets bad in the winter, when the furnaces dry out the even there I was glad to see the Tiffany Karst house humidity. But otherwise, this skin is just about perfect focus of the Focus rightly placed on Shirley Raeisi from head to toe—not too bad for an 83 year old man! P.S. ichthyosis and not on fluffier topics You may print this letter if you wish or use any part of it. such as fund-raising, convention Perhaps my years and years of research and thought put F.I.R.S.T. is a 501 (c) 3 charitable photos, shmooze stories, etc. Even into action could help others. organization supported by public the presentation of the Board of and private donations. All contribu- tions to F.I.R.S.T. are tax deductible Directors in the Focus was informa- Conrad N. Marriott, Toledo, OH to the full extent of the law. tive. Of course, the story by Merritt Andrews showed a lot of work and The editor invites your correspon- care given to writing to those of us Dear F.I.R.S.T., dence. We welcome your com- with ichthyosis. The photos of her ments, observations and sugges- My name is Tracy Wood. I receive your newsletter and tions. Please send your letters to made a nice study, and told more Ichthyosis Focus at the address than her words, too. The personal I just received a free sample of NeoCeuticals cream listed above. stories are by far my favorite part of from you. I can’t express just how happy that made the Focus. me. I have had ichthyosis since birth and it is so hard Ichthyosis Focus is provided as a to deal with, although I have become alot more under- service to members of F.I.R.S.T. Even the ads were strongly done standing of other people’s ignorance to this disorder in as a medium for the free exchange of information. Neither F.I.R.S.T., and welcomed by me. Apparently my 29 years. It was so touching to receive the cream, its Board of Directors, its Medical there is an increasing amount of because it shows me that there are really people out Advisory Board, nor the Focus products, and increased attention there who care and who want to make life a little easier Editors endorse any treatments or being given to ichthyosis. All of this for those of us afflicted with this disorder. Thank you products in Ichthyosis Focus. is good news, and I can only say: very much again. Views and opinions expressed in this publication do not necessarily Keep Up the Good Work! reflect the views of F.I.R.S.T.
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