DERMATOLOGY GRAND ROUNDS Ectodermal Dysplasias: Diagnosis & Treatment

The National Foundation for Ectodermal Dysplasias, The Inova Fairfax Hospital and the MedStar Washington Hospital Center Department of Dermatology invite you to DERMATOLOGY GRAND ROUNDS Ectodermal Dysplasias: Diagnosis & Treatment Join Us for Scientific Sessions and Patient Viewings: • Overview of Ectodermal Dysplasias • Patient Viewing - 5 Types of Ectodermal Dysplasias • Expert Discussion of Cases • Dermatological Manifestations of Ectodermal Dysplasias • Genetics of Ectodermal Dysplasias: An Update • Hand Malformations: Types and Treatments Thursday, July 20, 2017 8 a.m. - 12:15 p.m. Inova Center for Personalized Health 3225 Gallows Rd. Fairfax, VA 22031 AGENDA OBJECTIVES 8-8:30 a.m. • To recognize the common co-existing medical Overview of Ectodermal Dysplasias signs and symptoms associated with the Timothy J. Fete, MPH, MD ectodermal dysplasia syndromes 8:30 - 9:15 a.m. • To recognize the importance of early diagnosis Patient Viewing and intervention with appropriate resources Examine 5 patients (in separate exam rooms). and service Patients have been selected to represent different forms of ectodermal dysplasia, such • To understand the importance of genetic as ankyloblepharon-ectodermal defects- counseling and services clefting (AEC) syndrome, ectrodactyly- ectodermal dysplasia-clefting (EEC) syndrome, focal dermal hypoplasia (Goltz) • To identify and understand the current syndrome, hypohidrotic ectodermal dysplasia research related to hypohidrotic ectodermal (HED) and incontinentia pigmenti (IP). dysplasia and other syndromes 9:15 – 10:30 a.m. • To recognize the dermatological Discussion of Cases and the manifestations of ectodermal dysplasias and Dermatological Manifestations of understand appropriate treatment options Ectodermal Dysplasias Scott Norton, MD, MPH Yasmine Kirkorian, MD Nessa Aghazadeh, MD REGISTRATION INFORMATION Cyndee DeKlotz, MD Email [email protected] to register to attend. Kaiane Habeshian, MD CONTINUING EDUCATION CREDITS 10:30 – 10:50 a.m. Break AMA Level-1 CME credits offered through the Grand Rounds Program of the Dermatology Department at MedStar Washington Hospital Center. 10:50 – 11:25 a.m. Genetics of Ectodermal Dysplasias Pranoot Tanpaiboon, MD PLANNING COMMITTEE Children’s National Medical Center Mary Fete, MSN, RN, CCM Washington D.C. Executive Director, NFED 11:25 a.m. - Noon Scott Norton, MD, MPH Hand Malformations: Types & Chief of Dermatology at Children's National Health Treatments System Emily Hattwick, MD Elaine Siegfried, MD Children’s National Medical Center Saint Louis University School of Medicine Washington D.C. Robert Silverman, MD, FAAD Noon – 12:15 p.m. Pediatric Dermatology, Inova Children’s Hospital Concluding Remarks Elaine Siegfried, MD Saint Louis University School of Medicine Mary Fete, MSN, RN, CCM QUESTIONS? Executive Director, National Foundation for Ectodermal Dysplasias Contact Mary Fete, [email protected], 618-566-6872 .

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Goltz Syndrome Nsu-Com / Larkin Community Hospital Presenters: Ann R Eed, Do, Hyunhee Park, Do, Julie Frederickson , Do
GOLTZ SYNDROME NSU-COM / LARKIN COMMUNITY HOSPITAL PRESENTERS: ANN R EED, DO, HYUNHEE PARK, DO, JULIE FREDERICKSON , DO. PROGRAM DIRECTOR: STANLEY SKOPIT, DO, MSE, FAOCD Case presentation 17 year old female with established diagnosis of Goltz syndrome presented to our office Jan. 2011 with c/o “Dry skin and itchy scalp” PE: Syndromic facies w/ aniridia, microphthalmia, short stature, sparse hair, hypodontia, syndactyly, blaschko linear hyper and hypopigmentation, perioral papillomas, scaly scalp and xerotic skin Dx: Xerosis Cutis , Seborrhea and alopecia in patient with Goltz Tx: Ketoconazole 2% shampoo MWF alt with T/Sal Lidex solution BID x 2 weeks to scalp Cerave/Cetaphil to body Biotin 2500 mcg daily Bx’s: 3/8/11 Shave biopsy (R labial commissure) - Verruca with candidiasis 3/22/11 Shave biopsy (L labial commissure) - Impetiginized Verruca with candidiasis Ketoconazole 2% cream BID given for topical treatment Goltz Syndrome Overview Focal Dermal Hypoplasia or Goltz-Gorlin syndrome Rare genodermatosis Multiple abnormalities of mesodermal and ectodermal tissues First described by Dr. Goltz in 1962 Approximately 300 reported cases worldwide Inheritance X-linked dominant 90% female Lethal in males with non-mosaic hemizygous mutations 10% affected individuals: males with genomic or functional mosaicism 95% of cases are sporadic Gene locus Xp11.23 Mutation in PORCN gene lack of Wnt signaling Variability in clinical severity (lyonization) Goltz Syndrome Cutaneous Findings Wu M-C et al. / Dermatologica Sinica 29 (2011) 59-62 Wang
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Blueprint Genetics Ectodermal Dysplasia Panel
Ectodermal Dysplasia Panel Test code: DE0401 Is a 25 gene panel that includes assessment of non-coding variants. Is ideal for patients with a clinical suspicion of ectodermal dysplasia (hidrotic or hypohidrotic) or Ellis-van Creveld syndrome. About Ectodermal Dysplasia Ectodermal Dysplasia (ED) is a group of closely related conditions of which more than 150 different syndromes have been identified. EDs affects the development or function of teeth, hair, nails and sweat glands. ED may present as isolated or as part of a syndromic disease and is commonly subtyped according to sweating ability. The clinical features of the X-linked and autosomal forms of hypohidrotic ectodermal dysplasia (HED) can be indistinguishable and many of the involved genes may lead to phenotypically distinct outcomes depending on number of defective alleles. The most common EDs are hypohidrotic ED and hydrotic ED. X-linked hypohidrotic ectodermal dysplasia (HED) is caused by EDA mutations and explain 75%-95% of familial HED and 50% of sporadic cases. HED is characterized by three cardinal features: hypotrichosis (sparse, slow-growing hair and sparse/missing eyebrows), reduced sweating and hypodontia (absence or small teeth). Reduced sweating poses risk for episodes of hyperthermia. Female carriers may have some degree of hypodontia and mild hypotrichosis. Isolated dental phenotypes have also been described. Mutations in WNT10A have been reported in up to 9% of individuals with HED and in 25% of individuals with HED who do not have defective EDA. Approximately 50% of individuals with heterozygous WNT10A mutation have HED and the most consistent clinical feature is severe oligodontia of permanent teeth.
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Goltz Syndrome) Head and Neck Surgery Manila Central University – Filemon D
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Ectodermal Dysplasia (Generic Term)
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Table I. Genodermatoses with Known Gene Defects 92 Pulkkinen
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Oral Manifestation of Genodermatoses L
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