DOCSLIB.ORG

Ichthyosis Hystrix

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
Ichthyosis Hystrix Case Report Ichthyosis hystrix Surajit Nayak, Basanti Acharjya, Prasenjit Mohanty Department of Skin ABSTRACT and VD, MKCG Medical College and Hospital, The present report describes the condition in a three day old male child with bilateral ,linear, hyperpigmented and Berhampur, Orissa, India hyperkeratotic verrucous plaques and patchy alopecia over scalpe without any nail and skeletal abnormalities. It was suggestive of ichthyosis hystrix type of epidermal nevus,and is being reported in view of the rarity of this condition. Key words: Icthyosis hystrix, epidermal nevus syndrome, etretinate INTRODUCTION most part of the face. Nails were normal. In the lower limbs, in addition to the nevus, there were Ichthyosis hystrix the nomenclature comes unilateral hyperpigmented [Figure 1] macular from the Greek word and condition was first patches encircling right upper thigh and complete described in England in early 18th century. left thigh, sparing a band-like zone. The term ichthyosis hystrix is used to describe several rare skin disorders in the ichthyosis On physical examination, we could not observe family of skin disorders characterized by massive any defects, especially in skeletal or central hyperkeratosis with an appearance like spiny nervous systems. Routine laboratory examination scales. The term has also been employed to including complete blood count, urine analysis, describe localized and linear warty epidermal nevi liver function test and chest X-ray were all within sometimes associated with mental retardation, normal limits. The parents did not permit a biopsy. seizures or skeletal anomalies. Alopecia and hair and nail abnormalities as well as inner ear Based on the above constellation of clinical deafness were also seen in these patients. features (history, typical morphology, and generalized, roughly bilaterally symmetrical CASE REPORT involvement), a diagnosis of ichthyosis hystrix Access this article online type of epidermal nevus (systematized epidermal Website: www.idoj.in A 3-day-old full-term male, born by cesarean nevus) was made. DOI: 10.4103/2229-5178.105483 section out of non-consanguineous marriage, Quick Response Code: was referred to us from the Obstetrics and The name ichthyosis hystrix comes from the Gynaecology department with complaints of Greek words ichthyos meaning fish and hystrix extensive verrucous hyperpigmented lesions. meaning porcupine. It is a descriptive name for a heterogeneous group of keratinization A detailed general examination revealed an disorders sharing similar features of massive, extensive systematized epidermal nevus over the spiky or verrucous hyperkeratosis clinically and scalp, forehead, the entire trunk (both anteriorly epidermolytic hyperkeratosis histologically. and posteriorly) and both upper and lower limbs. Address for The condition was first described in the Lambert correspondence: The nevus was more prominent over the left Dr. Surajit Nayak, half of anterior trunk [Figure 1], extending along family in England in the early 18th century. This Department of Skin midline of genitalia. Posteriorly it was almost term is also used to refer to a type of epidermal and VD, MKCG Medical symmetrical [Figure 2]. In all sites, nevi followed nevus with extensive bilateral distribution.[1] College, Berhampur, the lines of Blaschko. Over the scalp [Figure 3], Orissa, India. it followed a fronto-occipital linear distribution and Since in 1902 Brocq[2] first reported ichthyosis E-mail: surajitnyk@ in the involved areas, there was complete loss of hystrix as a atypical form of congenital bullous yahoo.co.in hair. The palms and soles were spared, so also ichthyosiform erythroderma, many authors Indian Dermatology Online Journal - January-March 2013 - Volume 4 - Issue 1 47 Nayak, et al.: Ichthyosis hystrix The term systematized epidermal nevus is used for lesions that are bilateral and excessive; similarity to the lesions of ichthyosis is emphasized in the term ichthyosis hystrix.[4] Histological examination of the epidermis shows acanthosis, papillomatosis, and severe orthokeratotic hyperkeratosis, with frequent binucleate cells.[5] Study of three generations of the families of Curth and Macklin with ichthyosis identified a mutation in the variable tail domain (V2) of the keratin-1 gene.[6] Solomon and Esterly[7] provided a detailed account of the spectrum of epidermal nevi seen in the epidermal nevus syndrome. They described seven types of lesions. The majority of patients had nevus unius lateralis; 20% of patients had Figure 1: Hyperpigmented, verrucous patches on front following lines ichthyosis hystrix. of Blaschko In 1978, Basler et al.[8] first described a case of ichthyosis hystrix that was not associated with any other defects. Subsequently, a few authors reported similar cases of ichthyosis hystrix without involvement of other systems. Our case also did not have any systemic abnormality. Clinical expression varies, even within families, from palmoplantar keratoderma to a severe, generalized involvement. There can be widespread, patchy, thick, gray-brown hyperkeratosis, most marked on extensor surface of the arms and legs. However, in contrast to epidermolytic hyperkeratosis, blistering does not occur. A condition that closely resembles ichthyosis hystrix with a melanocytic nevus is phacomatosis pigmentokeratotica. It Figure 2: Similar lesions over back is characterized by the coexistence of an epidermal nevus following the Blaschko’s lines that usually shows sebaceous differentiation with a large speckled lentiginous nevus, typically arranged in a chequerboard pattern. This syndrome is an example of cutaneous mosaicism that is thought to be related to twin spotting phenomenon. It differs from ichthyosis hystrix by the absence of a systematized nevus. There is no specific treatment for ichthyosis hystrix. Major treatment consists of symptomatic therapy for complications and cosmetic purposes. Topical retinoids, usually tretinoin, may be beneficial. A good result with etretinate is reported by many authors,[9,10] which can be planned once the baby attains the right age. REFERENCES Figure 3: Lesions over scalp, resulting in linear bands of alopecia 1. Duncan KO, Geisse JK, Leffel DJ. Benign epithelial tumours. In: Wolff K, Goldsmith LA, Katz S, Gilchrest BA, Paller AS, Leffell DJ, described it by different names including nevus verrucosus, editors. Epidermal and appendageal tumours. Fitzpatrick’s dermatology in general medicine. 7th ed. NY: McGraw-Hil Division; 2008. p. 1060-1. systematized epidermal nevi, and epidermolytic hyperkeratosis. 2. Brocq L. Erythrodermie congénitale ichthyosiforme avec In 1980, Gianotti[3] classified it as a localized form of congenital hyperepidermotrophie. Ann Dermatol Syphiligr 1902;4:1–31. [Quoted by: DiGiovanna JJ, Bale SJ. Clinical heterogeneity in epidermolytic epidermolytic hyperkeratosis. hyperkeratosis. Arch Dermatol 1994;130:102635.] 48 Indian Dermatology Online Journal - January-March 2013 - Volume 4 - Issue 1 Nayak, et al.: Ichthyosis hystrix 3. Gianotti F. Congenital icthyosiform dermatoses in childhood. J Dermatol 7. Solomon LM, Esterly NB. Epidermal and other congenital organoid (Japan) 1980;7:1-9. nevi. Curr Probl Pediatr 1975;6:1-56. 4. Rogers M. Epidermal naevi/epidermal naevus syndromes. In: Textbook 8. Basler RS, Jacobs SI, Taylor WB. Icthyosis hystrix. Arch Dermatol of Pediatric Dermatology. 2nd edn. Eds. Harper J, Oranje A, Prose N. ed. 1978;114:1059. London, Blackwell Publishing Ltd; 2006.;1125. 9. Kang WH, Lee KH, Chin HS. Icthosis hystrix: A case treated with 5. Fleckman P, Digiovanna JJ. The Ichthyoses. In: Disorders of epidermal etretinate. Korean J Dermatol 1984;22:101. differentiation and keratinization. In: Fitzpatrick’s dermatology in 10. Kanerva L, Karvonen J, Oikarinen A, Lauharanta J, Ruokonen general medicine. 7th edn. Eds. Wolff K, Goldsmith LA, Katz S, A, Niemi KM. Ichthyosis hystrix (Curth-Macklin). Light and electron Gilchrest BA, Paller AS, Leffell DJ. McGraw-Hil Division, NY, microscopic studies performed before and after etretinate treatment. 2008: 414 Arch Dermatol. 1984 Sep;120(9):1218-23. 6. Sprecher E, Ishida-Yamamoto A, Becker OM, Marekov L, Miller CJ, Steinert PM, et al. Evidence for novel functions of the keratin tail Cite this article as: Nayak S, Acharjya B, Mohanty P. Ichthyosis hystrix. emerging from a mutation causing ichthyosis hystrix. J Invest Dermatol Indian Dermatol Online J 2013;4:47-9. 2001;1164:511-9. Source of Support: Nil, Conflict of Interest: None declared. Indian Dermatology Online Journal - January-March 2013 - Volume 4 - Issue 1 49 Copyright of Indian Dermatology Online Journal is the property of Medknow Publications & Media Pvt. Ltd. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use..
Load more

Recommended publications
  • Bilateral Lower Extremity Hyperkeratotic Plaques: a Case Report of Ichthyosis Vulgaris
    Faculty & Staff Scholarship 2015 Bilateral lower extremity hyperkeratotic plaques: a case report of ichthyosis vulgaris Hayley Leight Zachary Zinn Omid Jalali Follow this and additional works at: https://researchrepository.wvu.edu/faculty_publications Clinical, Cosmetic and Investigational Dermatology Dovepress open access to scientific and medical research Open Access Full Text Article CASE REPORT Bilateral lower extremity hyperkeratotic plaques: a case report of ichthyosis vulgaris Hayley Leight Abstract: Here, we report a case of a middle-aged woman presenting with severe, long-standing, Zachary Zinn hyperkeratotic plaques of the lower extremities unrelieved by over-the-counter medications. Omid Jalali Initial history and clinical findings were suggestive of an inherited ichthyosis. Ichthyoses are genetic disorders characterized by dry scaly skin and altered skin-barrier function. A diagnosis Department of Dermatology, West Virginia University, of ichthyosis vulgaris was confirmed by histopathology. Etiology, prevalence, and treatment Morgantown, WV, USA options are discussed. Keywords: filaggrin gene, FLG, profilaggrin, keratohyalin granules, hyperkeratosis Introduction For personal use only. Inherited ichthyoses are a diverse group of genetic disorders characterized by dry, scaly skin; hyperkeratosis; and altered skin-barrier function. While these disorders of cutaneous keratinization are multifaceted and varying in etiology, disruption in the stratum corneum with generalized scaling is common to all.1–4 Although not entirely known
    [Show full text]
  • Abstract Book
    Abstract Book First World Conference on Ichthyosis August 31 – September 2, 2007 Münster, Germany Organized by Network for Ichthyoses and related keratinization disorders (NIRK) together with Selbsthilfe Ichthyose e.V. and EU-Coordination Action GENESKIN Contacts: H. Traupe, Münster, Email: [email protected] B. Willis, Münster, Email: [email protected] Barbara Kleinow, Email: [email protected] Geske Wehr, Email: [email protected] Location: Lecture Hall Location:Department of Dermatology University Hospital Von Esmarch-Str. 58 48149 Münster Germany Friday, August 31, 2007 page Workshop on clinical diversity and diagnostic standardization D. Metze, Münster Histopathology of ichthyoses: Clues for diagnostic standardization ..................................... 19 I. Hausser, Heidelberg Ultrastructural characterization of lamellar ichthyosis: A tool for diagnostic standardization 13 H. Verst, Münster The data base behind the NIRK register: a secure tool for genotype/phenotype analysis 34 V. Oji, Münster Classification of congenital ichthyosis ................................................................................... 20 M. Raghunath, Singapore Congenital Ichthyosis in South East Asia ............................................................................. 25 Keratinization disorders and keratins I. Hausser, Heidelberg Ultrastructure of keratin disorders: What do they have in common? ................................... 12 M. Arin, Köln Recent advances in keratin disorders .................................................................................
    [Show full text]
  • Epidermolytic Hyperkeratosis with Ichthyosis Hystrix Geromanta Baleviciené, MD, Vilnius, Lithuania Robert A
    pediatric dermatology Series Editor: Camila K. Janniger, MD, Newark, New Jersey Epidermolytic Hyperkeratosis With Ichthyosis Hystrix Geromanta Baleviciené, MD, Vilnius, Lithuania Robert A. Schwartz, MD, MPH, Newark, New Jersey Epidermolytic hyperkeratosis (EH) is a congenital, autosomal-dominant genodermatosis characterized by blisters.1,2 Shortly after birth, the infant’s skin becomes red and may show bullae. The erythema regresses, but brown verrucous hyperkeratosis persists, particularly accentuated in the flexures. This condition is also known as bullous ichthyosiform erythroderma. The disorder of keratinization has varied clinical manifestations in the extent of cutaneous involve- ment, palmar and plantar hyperkeratosis, and evi- dence of erythroderma. We describe 5 patients, 4 with EH (one of whom had it in localized form and one of whom had an unusual type of ichthyosis hystrix described by Curth and Macklin3-7). Case Reports FIGURE 1. Seven-year-old girl with EH, demonstrating Patient 1—A 7-year-old girl with a cutaneous erup- erythema and verrucous hyperkeratosis (Patient 1). tion since birth characterized by flaccid bullae vary- ing in size. The palms and soles had intense diffuse keratosis from 1 year of age. Her nails, hair, teeth, and mental state were normal. The patient’s mother (Pa- tient 2) had a similar disorder. Skin biopsy specimens showed the changes of EH, with pronounced cellular vacuolation of the middle and upper portions of the malpighian stratum and large, clear, irregular spaces. Cellular boundaries were indistinct. A thickened granular layer was evident with large, irregularly shaped keratohyalin granules. Ultrastructural study showed tonofilament clumping of the malpighian layer and cytolysis.
    [Show full text]
  • Clinical Vignette Hystrix-Like Ichthyosis and Deafness Syndrome in A
    Clinical Vignette Hystrix-like Ichthyosis and Deafness Syndrome in a Toddler Kanika Singh1, Renu Saxena1, Rishi Parashar2, Sunita Bijarnia-Mahay1 1Institute of Medical Genetics and Genomics, Sir Ganga Ram Hospital, New Delhi ∗ 2Department of Dermatology, Sir Ganga Ram Hospital, New Delhi Correspondence to: Dr Sunita Bijarnia-Mahay Email: [email protected] Abstract deafness which is seen in the HID syndrome. About 100 cases of HID have been reported to Hystrix-like ichthyosis and deafness (HID) date in literature (Avshalumova et al., 2014). Here syndrome is characterized by ichthyosis, we present a rare case of the HID syndrome. erythrokeratoderma, alopecia and deafness in varying degrees of severity. The clinical Case Report manifestations are present since birth, evolve and gradually worsen. It occurs due to a single known The patient is a 17-month-old girl born to non mutation in the GJB2 gene. Early diagnosis and consanguineous parents. She was born preterm at management and genetic counseling require a 36 weeks of gestation, appropriate for gestation high index of suspicion for an underlying genetic with a birth weight of 2.5 kg. She had required basis in such skin disorders. admission in the neonatal intensive care unit (NICU) for 4 weeks in view of respiratory distress. Introduction Soon after birth she developed redness and peeling of the skin involving the face, arms, trunk Hystrix-like ichthyosis and deafness (HID) and dorsum of hands and feet which persisted at syndrome (OMIM#602540) was first described the time of discharge (Figures 1A and 1B). She was in a patient in 1977 who presented with treated for congenital pneumonia and seborrheic icthyosis-hystrix and bilateral hearing loss dermatitis during her NICU stay.
    [Show full text]
  • Darier's Disease Presented As Porcupine-Like Appearance and The
    Journal of Cosmetics, Dermatological Sciences and Applications, 2012, 2, 136-140 http://dx.doi.org/10.4236/jcdsa.2012.23027 Published Online September 2012 (http://www.SciRP.org/journal/jcdsa) A Unique Case? Darier’s Disease Presented as Porcupine-Like Appearance and the Observation on * Acitretin Treatment Xi-Bao Zhang1#, Chang-Xing Li2, Xue-Mei Li1, Yu-Qing He1, Xiao Xu,1 Quan Luo1 1Department of Dermatology, Guangzhou Institute of Dermatology, Guangzhou, China; 2Department of Dermatology, Dongguan Hospital of Chronic Disease, Dongguan, China. Email: #[email protected] Received May 6th, 2012; revised June 10th, 2012; accepted June 29th, 2012 ABSTRACT Dyskeratosis follicularis (Darier’s disease, DD) is rare autosomal dominant disease characterized by hyperkeratotic papules that coalesce into plaques and occur primarily in seborrheic or intertriginous areas. Associated findings include nail abnormalities. A 3-year-old boy presented with porcupine-like appearance for 2 years. The lesion from the back was taken for light microscopy and electron microscopy. He was treated with acitretin (0.31 mg/d to 0.66 mg/d) for 8 years. Light microscopy and electron microscopy showed that the typical features of DD. The patient show good re- spond to the treatment. During 8 years treatment, the patient had dry mouth and pruritus. The skeletal abnormalities didn’t happen in the patient. Evaluation of the serum lipid profile, liver function and renal function were within normal lever after treatment. Our findings showed that porcupine-like appearance is a unique pattern of DD. Acitretin may be a useful therapeutic agent in children with DD and less likely to cause skeletal problems.
    [Show full text]
  • Table I. Genodermatoses with Known Gene Defects 92 Pulkkinen
    92 Pulkkinen, Ringpfeil, and Uitto JAM ACAD DERMATOL JULY 2002 Table I. Genodermatoses with known gene defects Reference Disease Mutated gene* Affected protein/function No.† Epidermal fragility disorders DEB COL7A1 Type VII collagen 6 Junctional EB LAMA3, LAMB3, ␣3, ␤3, and ␥2 chains of laminin 5, 6 LAMC2, COL17A1 type XVII collagen EB with pyloric atresia ITGA6, ITGB4 ␣6␤4 Integrin 6 EB with muscular dystrophy PLEC1 Plectin 6 EB simplex KRT5, KRT14 Keratins 5 and 14 46 Ectodermal dysplasia with skin fragility PKP1 Plakophilin 1 47 Hailey-Hailey disease ATP2C1 ATP-dependent calcium transporter 13 Keratinization disorders Epidermolytic hyperkeratosis KRT1, KRT10 Keratins 1 and 10 46 Ichthyosis hystrix KRT1 Keratin 1 48 Epidermolytic PPK KRT9 Keratin 9 46 Nonepidermolytic PPK KRT1, KRT16 Keratins 1 and 16 46 Ichthyosis bullosa of Siemens KRT2e Keratin 2e 46 Pachyonychia congenita, types 1 and 2 KRT6a, KRT6b, KRT16, Keratins 6a, 6b, 16, and 17 46 KRT17 White sponge naevus KRT4, KRT13 Keratins 4 and 13 46 X-linked recessive ichthyosis STS Steroid sulfatase 49 Lamellar ichthyosis TGM1 Transglutaminase 1 50 Mutilating keratoderma with ichthyosis LOR Loricrin 10 Vohwinkel’s syndrome GJB2 Connexin 26 12 PPK with deafness GJB2 Connexin 26 12 Erythrokeratodermia variabilis GJB3, GJB4 Connexins 31 and 30.3 12 Darier disease ATP2A2 ATP-dependent calcium 14 transporter Striate PPK DSP, DSG1 Desmoplakin, desmoglein 1 51, 52 Conradi-Hu¨nermann-Happle syndrome EBP Delta 8-delta 7 sterol isomerase 53 (emopamil binding protein) Mal de Meleda ARS SLURP-1
    [Show full text]
  • Hereditary Ichthyosis
    !" #$%&'# $(%&) #'# %*+&,*'#'* -#.*&%* --#.# // Dissertation for Degree of Doctor of Philosophy (Faculty of Medicine) in Dermatology and Venereology presented at Uppsala University in 2002 ABSTRACT Gånemo, A. 2002. Hereditary ichthyosis. Causes, Skin Manifestations, Treatments and Quality of Life. Acta Universitatis Upsaliensis. Comprehensive Summaries of Uppsala Dissertations from the Faculty of Medicine 1125. 68 pp Uppsala ISBN 91-554-5246-9 Hereditary ichthyosis is a collective name for many dry and scaly skin disorders ranging in frequency from common to very rare. The main groups are autosomal recessive lamellar ichthyosis, autosomal dominant epidermolytic hyperkeratosis and ichthyosis vulgaris, and x-linked recessive ichthyosis. Anhidrosis, ectropion and keratodermia are common symptoms, especially in lamellar ichthyosis, which is often caused by mutations in the transglutaminase 1 (TGM1) gene. The aim of this work was to study patients with different types of ichthyosis regarding (i) the patho-aetiology (TGM1 and electron microscopy [EM] analysis), (ii) skin signs and symptoms (clinical score and subjective measure of disease activity), (iii) quality of life (questionnaires DLQI, SF-36 and NHP and face-to-face interviews) and (iv) a search for new ways of topical treatment. Patients from Sweden and Estonia with autosomal recessive congenital ichthyosis (n=83) had a broader clinical spectrum than anticipated, but a majority carried TGM1 mutations. Based on DNA analysis and clinical examinations the patients were classified into three groups, which could be further subdivided after EM analysis. Our studies indicate that patients with ichthyosis have reduced quality of life as reflected by DLQI and by some domains of SF- 36, by NHP and the interviews. All the interviewees reported that their skin disease had affected them negatively to varying degrees during their entire lives and that the most problematic period was childhood.
    [Show full text]
  • Eponyms in the Dermatology Literature Linked to Palmo-Plantar Keratoderma
    Historical Article DOI: 10.7241/ourd.20134.145 EPONYMS IN THE DERMATOLOGY LITERATURE LINKED TO PALMO-PLANTAR KERATODERMA Ahmad Al Aboud1, Khalid Al Aboud2 1Dermatology Department, King Abdullah Medical City, Makkah, Saudi Arabia Source of Support: 2Department of Public Health, King Faisal Hospital, Makkah, Saudi Arabia Nil Competing Interests: None Corresponding author: Dr. Khalid Al Aboud [email protected] Our Dermatol Online. 2013; 4(4): 573-578 Date of submission: 26.04.2013 / acceptance: 30.05.2013 Cite this article: Ahmad Al Aboud, Khalid Al Aboud: Eponyms in the dermatology literature linked to Palmo-Plantar Keratoderma. Our Dermatol Online. 2013; 4(4): 573-578. Palmoplantar keratodermas (PPKs) represent a diverse Although a number of classifications of keratodermashave group of hereditary and acquired disorders characterized by been published, none unite satisfactorily clinical presentation, hyperkeratosis of the skin on the palms and soles [1]. The three pathology and molecular pathogenesis. major patterns of involvement are diffuse, focal and punctate. We based our concise review of selected eponyms linked to There are clinical distinguishing features for each disease PPK (Tabl. I) [2-36], on the classifications published in the in this group, for example, transmigration to areas beyond current editions of two major textbooks in dermatology; Rook’s the palmoplantar skin. Also the extent of associated systemic Textbook of Dermatology and Dermatology by Jean L Bolognia. symptoms if present help in characterization of each type. Eponyms in the dermatology Remarks literature linked to Palmo-Plantar Keratoderma (PPK) Bart–Pumphrey Syndrome [2] This syndrome is characterized by knuckle pads,leukonychia, palmoplanter keratoderma (PPK) andsensorineural deafness.
    [Show full text]
  • Evidence Against Keratin Gene Mutations in a Family with Ichthyosis Hystrix Curth-Macklin
    RAPID COMMUNICATION Evidence Against Keratin Gene Mutations in a Family with Ichthyosis Hystrix eurth-Macklin Jeannette M. Bonifas, John W. Bare, Marisa A. Chen, Annamari Ranki,* Kirsti-Maria Neimi,* and Ervin H. Epstein, Jr. Departments of Dermatology University of Cali fornia School of Medicine, San Francisco, California, U.S.A.; and 'Helsinki University Central Hospital, Helsinki, Finland Ichthyosis hystrix Curth-Macklin is a rare autosomal domi­ might underlie this disease. This analysis excluded the kera­ nant disease characterized clinically by hyperkeratosis and tin gene loci as the sites for the disease-causing mutation in ultrastructurally by disruption of the keratin intermediate one affected kindred. Key words: linkage analysis/epidermal filament network of suprabasal keratinocytes. W e have used disease/ genodermatoses/ epidermolytic hyperkeratosis. ] In­ linkage analysis to test whether a keratin gene mutation vest DermatoI101:890-891, 1993 lthough many cutaneous disorders have been termed MATERIALS AND METHODS "disorders of keratinization," only very recently have DNA was isolated from peripheral blood leukocytes. After informed consent phenotypic abnormalities resulting from keratin ge ne 30-60 ml blood was drawn from each patient. After anticoagulation with abnormalities been elucidated. Specifically, there now ethylenediamine tetraacetic acid. the lymphocytes were separated with Fi­ is substantial evidence that mutations of ge nes encod­ coli density centrifugation (Fi co ll -Paque, Pharmacia, Uppsala) and washed. Aing keratins expressed in basal keratinocytes underlie epidermolysis and high - molecular-weight DNA was iso lated. The cells were first lysed in mM , bullosa simplext [1 - 6] and that mutations of genes encoding kera­ Tris-HCI buffer (pH 7.6) containing 1 % Triton-X-I00.
    [Show full text]
  • Journal of the American Osteopathic College of Dermatology Journal of the American Osteopathic College of Dermatology
    Journal of the American Osteopathic College of Dermatology Journal of the American Osteopathic College of Dermatology Editors Jay S. Gottlieb, D.O., F.O.C.O.O. Stanley E. Skopit, D.O., F.A.O.C.D. Associate Editor James Q. Del Rosso, D.O., F.A.O.C.D. Editorial Review Board Earl U. Bachenberg, D.O. Richard Miller, D.O. Lloyd Cleaver, D.O. Ronald Miller, D.O. Eugene Conte, D.O. Evangelos Poulos, M.D. Monte Fox, D.O. Stephen Purcell, D.O. Sandy Goldman, D.O. Darrel Rigel, M.D. Gene Graff, D.O. Robert Schwarze, D.O. Andrew Hanly, M.D. Michael Scott, D.O. Cindy Hoffman, D.O. Eric Seiger, D..O David Horowitz, D.O. Brooks Walker, D.O Charles Hughes, D.O. Bill Way, D.O. Daniel Hurd, D.O. Schield Wikas, D.O. Mark Lebwohl, M.D. Edward Yob, D.O. Jere Mammino, D.O. 2003-2004 OFFICERS President: Stanley E. Skopit, DO President-Elect: Ronald C. Miller, DO First Vice-President: Richard A. Miller, DO Second Vice-President: Bill V. Way, DO Third Vice-President: Jay S. Gottlieb, DO Secretary-Treasurer: James D. Bernard, DO Assistant Secretary-Treasurer: Jere J. Mammino, DO Immediate Past President: Robert F. Schwarze, DO Trustees: Daniel S. Hurd, DO Jeffrey N. Martin, DO Brian S. Portnoy, DO Donald K. Tillman, DO Executive Director: Rebecca Mansfield, MA AOCD 1501 E Illinois Kirksville, MO 63501 800-449-2623 FAX: 660-627-2623 www.aocd.org COPYRIGHT AND PERMISSION: written permission must be obtained from the Journal of the American Osteopathic College of Der- matology for copying or reprinting text of more than half page, tables or figures.
    [Show full text]
  • THE BASEMENT MEMBRANE ZONE: MAKING the CONNECTION American Academy of Dermatology
    THE BASEMENT MEMBRANE ZONE: MAKING THE CONNECTION American Academy of Dermatology Study Notes THE BASEMENT MEMBRAN E ZONE: MAKING THE CONNECTION COPYRIGHT © 2012 AME RICAN ACADEMY OF DER MATOLOGY THE BASEMENT MEMBRAN E ZONE: MAKING THE CO NNECTION Study Guide LTC Eduardo M. Vidal, M.D. Medical Corps, U.S. Army Assistant Professor of Dermatology, Uniformed Services University of Health Sciences, Bethesda, Maryland. Copyright 2012 American Academy of Dermatology Reproduction or republication strictly prohibited without prior written permission. 930 E. Woodfield Road Schamburg, IL 60168 Toll-free: (866) 503-SKIN (7546) International: (847) 240-1280 Fax: (847) 240-1859 1 THE BASEMENT MEMBRAN E ZONE: MAKING THE CONNECTION COPYRIGHT © 2012 AME RICAN ACADEMY OF DER MATOLOGY 2 THE BASEMENT MEMBRAN E ZONE: MAKING THE CONNECTION COPYRIGHT © 2012 AME RICAN ACADEMY OF DER MATOLOGY 3 THE BASEMENT MEMBRAN E ZONE: MAKING THE CONNECTION COPYRIGHT © 2012 AME RICAN ACADEMY OF DER MATOLOGY Intermediate Filamments, Type I & II Classification: Cytoskeletal protein Molecular weight: 40-64 kDa. Location: Basal keratinocyte. Function(s): a. Structural/mechanical integrity. b. Organizing cytoplasmic architecture. c. Intracellular signaling. d. Regulation of transcription. Disease associations: a. Dominant epidermolysis bullosa simplex ( DEBS) [K5, K14]. b. REBS [K14]. c. EBS, Köebner type [K5, K14]. d. EBS, Weber-Cockayne type [K5, K14]. e. EBS, Dowling-Meara type [K5, K14]. f. EBS with mottled pigmentation [K5, K14]. g. EBS with migratory circinate erythema [K5]. h. EBS with severe palmoplantar hyperkeratosis [K5]. i. Dowling-Degos disease [K5] j. Epidermolytic hyperkeratosis [K1,K10] k. Epidermolytic PPK [K1, K5, K9,K10, K16]. l. Diffuse non-epidermolytic PPK [K1].
    [Show full text]
  • Summer 2001 Am I at Increased Risk for July 5-7, 2002 - Skin Cancer Because National Family I Have Ichthyosis? John J
    ICHTHYOSIS FOCUS Vol. 20, No. 2 A Quarterly Journal for Friends of F.I.R.S.T. Summer 2001 Am I at Increased Risk for July 5-7, 2002 - Skin Cancer Because National Family I Have Ichthyosis? John J. DiGiovanna, MD Conference Dates Ichthyosis is a name that we use for a group of conditions It’s official! The national family conference with dry, scaly skin. The different types of ichthyosis can have has been scheduled for Friday, July 5 through very different manifestations. Some affect the skin mildly Sunday, July 7, 2002 in Seattle, Washington. while others cause severe thickening, cracking and discomfort. The hotel that has been selected is the Seattle Some are present at birth while others do not develop until Marriott Sea-Tac. The hotel is located near the adulthood. Most people with ichthyosis do not have other Seattle-Tacoma airport so it will be a free, health problems associated with their skin condition. However, quick and easy ride if you’re traveling by air- there are some types of ichthyosis that are associated with plane. It is also easy to get to from any major highway. other health problems. What about skin cancer? F.I.R.S.T. is planning a fun and educational weekend. We Of the many different types of ichthyosis, most are not read your evaluations from last year’s conference in Philadelphia associated with an increased risk for the development of skin and we will be making some exciting changes. We plan to have cancer. While the skin may not shed normally, and may also separate programs for adults, teenagers, “tweens,” and children continued on page 13 plus more social time to talk with others.
    [Show full text]