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Goltz Syndrome Nsu-Com / Larkin Community Hospital Presenters: Ann R Eed, Do, Hyunhee Park, Do, Julie Frederickson , Do

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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 L et al. Focal dermal hypoplasia updates. Oral Diseases. 2014; 20:17–24 Goltz Syndrome Extracutaneous Findings Non Cutaneous features include: Facial abnormalities Skeletal features CNS features Ear, Dental and Ocular abnormalities Cardiopulmonary GI GU Asymmetry of the face Low-set protruding ears Narrow nasal bridge and broad nasal tip with unilateral notch of the nasal alae Pointed chin Colobomas, anophthalmia, microphthalmia, strabismus, nystagmus, and ectopia lentis Prognathism, agenesis or dysplasia of the teeth, delayed tooth formation/eruption, microdontia, irregular spacing and malocclusion, enamel defects, notching of the incisors or extra incisors. Osteopathia Striata Gastrointestinal features: Genitourinary features: • Malrotation of the intestine • Abnormalities of the kidneys • Papillomatous lesions of the or ureters (eg, bifid ureter, esophagus leading to obstruction renal pelvis) • Gastric polyps • Gastric reflux with laxity of the • Horseshoe kidney hiatus • Hypoplastic or absent kidney • Diaphragmatic hernia • Omphalocele • Hernias, rectal prolapse, and perianal papillomas FOCAL Mnemonic Female gender Osteopathia striata Coloboma Absent ectodermis-, mesodermis-, and neurodermis-derived elements Lobster claw deformity Work-up Chest x-ray: Costovertebral defects Diaphragmatic hernia Eye examination: Colobomas Abdominal MRI: Diaphragmatic hernia Renal ultrasound: Structural anomalies of the kidneys and urinary collecting system Hearing evaluation Medical genetics consultation Pathology Reduction in dermal collagen Telangiectasia Adipocytes of varying sizes in upper dermis Labs No associated lab abnormalities reported with this syndrome in > 350 journal articles searched on PubMed Follow routine surveillance guidelines established for the general population Monitoring Dermatologist – for painful and pruritic erosive lesions Otolaryngologist – papillomas of the larynx Dental – Every 6 months for enamel hypoplasia leading to dental caries Physical/occupational therapy and Orthopedic surgeon – hand and foot malformations, etc. Ophthalmologist – eye abnormalities Management Supportive Subspecialist referral Pulsed dye laser (telangiectasias) Cryotherapy (giant papillomas) Prevention of secondary complications Genetic counseling Prenatal Diagnosis •Prenatal ultrasonographic findings variable: • Nonspecific fetal growth delay to specific organ and/or developmental anomalies • Contingent on the degree to which an individual is affected •Prenatal molecular genetic testing is possible for pregnancies at increased risk if the disease-causing mutation in the family has been identified: • Amniocentesis (15-18 weeks) • Chorionic villus sampling (10-12 weeks) Support Resources National Foundation for Ectodermal Dysplasias www.nfed.org Ectodermal Dysplasia Society www.ectodermaldysplasia.org 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 References 1. Alster TS, Wilson F. Focal dermal hypoplasia (Goltz's syndrome). Treatment of cutaneous lesions with the 585-nm flashlamp-pumped pulsed dye laser. Arch Dermatol. 1995 Feb. 131(2):143-4 2. Bolognia JL, Jorizzo JL, Schaffer JV. Dermatology. 3rd ed. 2012. Elsevier Saunders. 2012: 951. 3. Calonje E. McKee's Pathology of the Skin, With Clinical Correlations. Saunders; 2012. 4. Castelo-Soccio L. Focal Dermal Hypoplasia Syndrome Clinical Presentation. Updated: Dec 16, 2014. Accessed on 08/25/15. http://emedicine.medscape.com/article/1110936-overview#a6. 5. James WD, Berger TG, Elston DM. Andrews’ Diseases of the Skin Clinical Dermatology. 11th ed. Philadelphia: Elsevier. 2011: 565-566. 6. Liu J, Hsu PT, VanderWielen BA, Teng JM. Treatment of recalcitrant excessive granulation tissue with photodynamic therapy in an eight-year-old patient with focal dermal hypoplasia syndrome. Pediatr Dermatol. 2012 May-Jun;29(3):324-6. 7. Murakami C, De oliveira lira ortega A, Guimarães AS, Gonçalves-bittar D, Bönecker M, Ciamponi AL. Focal dermal hypoplasia: a case report and literature review. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2011;112(2):e11-8. References 8. Patterson JW, Ph.D. GA. Weedon's Skin Pathology. Churchill Livingstone; 2015. 9. Perioral and Genital Lesions. Copyright 2003-2006 by AOCD Grand Rounds. Submitted on: Mar 14, 2010, Accessed on 08/25/15 10. Purvis, D. Alkindi, S. Focal Dermal Hypoplasia (Goltz Syndrome). DermNet NZ. Accessed on 08/25/15 http://www.dermnetnz.org/systemic/goltz.html 11. Sakar S, Patra C, Das, A, Roy S. Goltz Syndrome: A newborn ectrodactyly and skin lesions. Indian J Dermatol 2015;60:215 12. Sutton VR, Van den Veyver IB. Focal Dermal Hypoplasia. 2008 May 15 [Updated 2013 Apr 11]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015. Available from: http://www.ncbi.nlm.nih.gov.ezproxylocal.library.nova.edu/books/NBK1543/ 11. Wang L et al. Focal dermal hypoplasia updates. Oral Diseases. 2014; 20:17–24. 12. Wu, Meng-Chi et al. Focal dermal hypoplasia: report of a Taiwanese case. Dermatologica Sinica, Volume 29, Issue 2, 59-62 .
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