Skin symptoms in four ectodermal dysplasia syndromes including two case reports of Rapp-Hodgkin-Syndrome

Eur J Dermatol. 2012 Sep-Oct;22(5):605-13. doi: 10.1684/ejd.2012.1787.


The skin, hair and nail changes in four distinct ectodermal dysplasia syndromes are compared and reviewed. These syndromes comprise Christ-Siemens-Touraine syndrome; ectrodactyly, ectodermal dysplasia and cleft lip/palate syndrome; ankyloblepharon-ectodermal defects-cleft lip/palate syndrome and Rapp-Hodgkin syndrome. A comprehensive overview of the dermatological signs and symptoms in these syndromes was generated from the database of the Ectodermal Dysplasia Network Germany, the clinical findings in the patients seen in our department and an extensive review of the literature. The findings included abnormalities of skin, sweating, hair and nails. These clinical findings are discussed in relation to the underlying molecular defects known to play a role in these four ectodermal dysplasia syndromes.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Child
  • Child, Preschool
  • Cleft Lip / diagnosis*
  • Cleft Palate / diagnosis*
  • Ectodermal Dysplasia / diagnosis*
  • Ectodermal Dysplasia 1, Anhidrotic / diagnosis*
  • Eye Abnormalities / diagnosis*
  • Eyelids / abnormalities
  • Female
  • Hair / abnormalities
  • Humans
  • Infant
  • Male
  • Middle Aged
  • Nails, Malformed
  • Young Adult

Supplementary concepts

  • Ectrodactyly-cleft lip-palate syndrome
  • Hay-Wells syndrome
  • Rapp-Hodgkin syndrome