Clinical features and WNT10A mutations in seven unrelated cases of Schöpf-Schulz-Passarge syndrome

Br J Dermatol. 2014 Nov;171(5):1211-4. doi: 10.1111/bjd.13158. Epub 2014 Oct 15.


Background: Schöpf-Schulz-Passarge syndrome (SSPS) is an autosomal recessive form of ectodermal dysplasia resulting from mutations in WNT10A.

Objectives: To document the spectrum of clinical features and search for pathogenic mutations in seven unrelated cases of SSPS.

Methods: Clinical examination of patients and Sanger sequencing of genomic DNA spanning the coding exons and flanking spice sites of WNT10A.

Results: Most subjects had bilateral eyelid cysts and some degree of palmoplantar keratoderma, although nail, hair, and teeth abnormalities were variably present. Bi-allelic pathogenic mutations in WNT10A were found in all seven subjects. New mutations comprised p.Glu390*, p.Ser270Arg, and p.Cys362Arg; the recurrent mutations were p.Cys107* and p.Ala131Thr.

Conclusions: This study reveals the range of ectodermal pathology in cases of SSPS that result from WNT10A mutations. Eyelid cysts provide a useful clinical clue to diagnosing SSPS which may be less rare than is currently appreciated.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Anodontia / genetics*
  • Anodontia / pathology
  • Eccrine Glands / abnormalities*
  • Eccrine Glands / pathology
  • Eyelid Neoplasms / genetics*
  • Eyelid Neoplasms / pathology
  • Female
  • Heterozygote
  • Humans
  • Hypotrichosis / genetics*
  • Hypotrichosis / pathology
  • Keratoderma, Palmoplantar / genetics*
  • Keratoderma, Palmoplantar / pathology
  • Male
  • Middle Aged
  • Mutation / genetics*
  • Wnt Proteins / genetics*


  • WNT10A protein, human
  • Wnt Proteins

Supplementary concepts

  • Schopf-Schulz-Passarge Syndrome