Poster Presentation ASDR Annual Scientific Meeting 2019

Schopf-Schulz-Passarge Syndrome: a rare ectodermal dysplasia with a delayed diagnosis (#36)

Fathima Ismail 1 , Rod Sinclair 1 , John McGrath 2
  1. Sinclair Dermatology, East Melbourne, VICTORIA, Australia
  2. St John’s Institute of Dermatology, London, United Kingdom

Schopf-Schulz-Passarge Syndrome (SSPS) is a rare ectodermal dysplasia, with less than 50 cases reported in the literature1.  The first description was in 1971 when two sisters born of a consanguineous marriage presented with eyelid cysts, hypodontia, hypotrichosis, palmoplantar keratoderma and onychodystrophy2.  The cardinal finding in SSPS is eyelid cysts (apocrine hidrocystomas) which differentiate it from other ectodermal dysplasias. They appear at a mean age of 50 years and are asymptomatic1.  This results in a late diagnosis at a mean age of 60 years, despite the other clinical features presenting early in life1. SSPS is caused by mutations in the WNT10A gene and is thought to have autosomal dominant inheritance3,4. Several benign and malignant tumours have been described in association with SSPS5.

We present a case of a 58 year old female of German and English ancestry, born of a non-consanguineous marriage. She had been diagnosed with an uncharacterised ectodermal dysplasia 25 years prior. She had no family members affected. Palmoplantar keratoderma first appeared at age 31. Multiple eyelid cysts appeared bilaterally at the age of 39. She reported abnormal dentition from childhood, with conical primary teeth and agenesis of permanent teeth.  She has worn complete dentures since the age of 13.  She recalls dystrophic nail changes from childhood. Additional features noted on examination included palmoplantar hyperhidrosis, perifollicular hyperkeratosis on her shins and scaling on the tip of her nose.  There was no associated hair disorder.  At age 59 she had a nodular basal cell carcinoma excised from her neck.

A diagnosis of SSPS was confirmed by histopathology from a punch biopsy taken from her palm which revealed acrosyringeal adenomatosis.  Molecular genetic analysis revealed two nonsense mutations in the WNT10A gene, p.Cys107* and p.Arg128*. This is a unique genotype in that the p.Arg128* mutation has not previously been reported in SSPS.

  1. Zimmermann CE, Soufi M, Ruppert V, Schaefer JR, von Domarus H. Schopf-Schulz-Passarge Syndrome: previously unreported WNT10A genotype and phenotypes in 9 family members. Acta Derm Venereol. 2019 Jan;99(1):113-114
  2. Schopf E, Schulz HJ, Passarge E. Syndrome of cystic eyelids, palmo-plantar keratosis, hypodontia and hypotrichosis as a possible autosomal recessive trait. Birth Defects Orig Artic Ser. 1971 Jun;7(8):219-221
  3. Bohring A, Stamm T, Spaich C et al. WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-based manifestation pattern in heterozygotes. Am J Hum Genet. 2009 Jul;85(1):97-105
  4. Adaimy L, Chouery E, Megarbane H et. al. Mutation in WNT10A is associated with an autosomal recessive ectodermal dysplasia: the odonto-onycho-dermal dysplasia. Am J Hum Gen. 2007 Oct;81(4):821-828
  5. Castori M, Castiglia D, Brancati F et al. Two families confirm Schopf-Schulz-Passarge syndrome as a discrete entity within the WNT10A phenotypic spectrum. Clin Genet. 2012 Jan;79(1):92-95
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