Late diagnosis of ectodermal dysplasia syndrome

Australas J Dermatol. 2013 Feb;54(1):46-8. doi: 10.1111/j.1440-0960.2012.00895.x. Epub 2012 Jun 4.

Abstract

This case study reports the clinical, skin biopsy and molecular findings in a 56-year-old Filipino man with the autosomal recessive ectodermal dysplasia disorder, Schöpf-Schulz-Passarge syndrome, the precise nature of which was established only after reading of a similar case in this journal. In addition to the late diagnosis, successful clinical management of his acral hyperkeratosis and ulceration has been difficult, with oral retinoids exacerbating the skin fragility.

Publication types

  • Case Reports

MeSH terms

  • Age Factors
  • Anodontia / diagnosis*
  • Anodontia / etiology
  • Anodontia / therapy
  • Delayed Diagnosis*
  • Eccrine Glands / abnormalities*
  • Ectodermal Dysplasia / diagnosis*
  • Ectodermal Dysplasia / etiology
  • Ectodermal Dysplasia / therapy
  • Eyelid Neoplasms / diagnosis*
  • Eyelid Neoplasms / etiology
  • Eyelid Neoplasms / therapy
  • Humans
  • Hypotrichosis / diagnosis*
  • Hypotrichosis / etiology
  • Hypotrichosis / therapy
  • Keratoderma, Palmoplantar / diagnosis*
  • Keratoderma, Palmoplantar / etiology
  • Keratoderma, Palmoplantar / therapy
  • Male
  • Middle Aged

Supplementary concepts

  • Schopf-Schulz-Passarge Syndrome