Rapp-Hodgkin syndrome and AEC syndrome: are they the same entity?

Br J Dermatol. 1994 Jan;130(1):97-101. doi: 10.1111/j.1365-2133.1994.tb06891.x.

Abstract

Rapp-Hodgkin syndrome and AEC syndrome are two disorders in which ectodermal dysplasia and clefting are associated. Rapp-Hodgkin syndrome is an autosomal dominant condition characterized by cleft lip and palate, peculiar craniofacial features, and ectodermal dysplasia, consisting of abnormalities of teeth, hair, nails and sweating. AEC syndrome manifests the same defects plus ankyloblepharon and a higher frequency of scalp dermatitis. A child affected by ectodermal dysplasia associated with clefting, ankyloblepharon, severe scalp dermatitis, and the characteristic Rapp-Hodgkin facies is reported. The overlap between Rapp-Hodgkin syndrome and AEC syndrome is discussed. Critical review of both disorders suggest that AEC syndrome and Rapp-Hodgkin syndrome represent the same entity.

Publication types

  • Case Reports

MeSH terms

  • Cleft Palate / pathology*
  • Ectodermal Dysplasia / pathology*
  • Eyelids / abnormalities*
  • Face / abnormalities*
  • Hair / abnormalities
  • Humans
  • Infant
  • Male
  • Nails, Malformed
  • Orofaciodigital Syndromes / pathology
  • Scalp / abnormalities
  • Skin Abnormalities
  • Syndrome