Hay-Wells syndrome in a child with mutation in the TP73L gene

J Dtsch Dermatol Ges. 2007 Oct;5(10):919-23. doi: 10.1111/j.1610-0387.2007.06379.x.
[Article in English, German]

Abstract

Hay-Wells syndrome is a rare form of ectodermal dysplasia, also known as AEC syndrome (Ankyloblepharon filiforme adnatum, Ectodermal effects, Cleft lip/palate). It is inherited in an autosomal dominant fashion with variable expression, featuring congenital abnormalities of skin, hair, teeth, nail, eccrine and mucous glands. We present a three-month-old boy, born to unaffected parents, with typical clinical findings of AEC syndrome. In this boy, a mutation Ile537Thr (c.1610C>T) in the sterile alpha motive (SAM) domain of the TP73L (p63) gene was detected. Because of the broad spectrum of related syndromes such as Rapp-Hodgkin syndrome, Bowen-Armstrong syndrome, CHAND syndrome and epidermolysis bullosa hereditaria, the diagnosis of AEC should be base don both clinical findings and genetic analysis.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / genetics
  • Cleft Lip / diagnosis*
  • Cleft Lip / genetics*
  • Cleft Palate / diagnosis*
  • Cleft Palate / genetics*
  • DNA-Binding Proteins / genetics*
  • Ectodermal Dysplasia / diagnosis*
  • Ectodermal Dysplasia / genetics*
  • Genetic Predisposition to Disease / genetics
  • Humans
  • Infant
  • Male
  • Mutation
  • Syndrome
  • Trans-Activators / genetics*
  • Transcription Factors
  • Tumor Suppressor Proteins / genetics*

Substances

  • DNA-Binding Proteins
  • TP63 protein, human
  • Trans-Activators
  • Transcription Factors
  • Tumor Suppressor Proteins