goltz syndrome - cdn.ymaws.com · case presentation 17 year old female with established diagnosis...
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GOLTZ SYNDROMENSU-COM / LARKIN COMMUNITY HOSPITAL
P R E S E N T E R S : A N N R E E D, D O, H Y U N H E E PA R K , D O, J U L I E F R E D E R I C K S O N , D O .
P R O G R A M D I R E C T O R : S TA N L E Y S KO P I T, D O , M S E , FA O C D
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 scalpCerave/Cetaphil to bodyBiotin 2500 mcg daily
Bx’s: 3/8/11 Shave biopsy (R labial commissure) - Verruca with candidiasis3/22/11 Shave biopsy (L labial commissure) - Impetiginized Verruca with candidiasisKetoconazole 2% cream BID given for topical treatment
Goltz Syndrome OverviewFocal 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
InheritanceX-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 SyndromeCutaneous 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 SyndromeExtracutaneousFindings
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:• Malrotation of the intestine• Papillomatous lesions of the
esophagus leading to obstruction• Gastric polyps• Gastric reflux with laxity of the
hiatus• Diaphragmatic hernia• Omphalocele• Hernias, rectal prolapse, and
perianal papillomas
Genitourinary features:• Abnormalities of the kidneys
or ureters (eg, bifid ureter, renal pelvis)
• Horseshoe kidney
• Hypoplastic or absent kidney
FOCAL MnemonicFemale 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 evaluationMedical 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 Societywww.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 scalpCerave/Cetaphil to bodyBiotin 2500 mcg daily
Bx’s: 3/8/11 Shave biopsy (R labial commissure) - Verruca with candidiasis3/22/11 Shave biopsy (L labial commissure) - Impetiginized Verruca with candidiasisKetoconazole 2% cream BID given for topical treatment
References1. 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.
References8. 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