p63 mutations

  • TP63 is a gene required for epidermal morphogenesis
  • p63 mutations lead to ectodermal dysplasias with overlapping features
  • Phenotypic diferences explained by diferent regions mutated in TP63 gene
      • notion image
  • AD
  • Rapp Hodgkin syndrome: cleft lip, palate and/or uvula; small dysplastic nails, hypodontia with small conical teeth, maxillary hypoplasia
  • AEC (Hay-Wells)
    • Ankyloblepharon - Ectodermal dysplasia - Cleft lip/palate syndrome
    • Scalp erosions, midfacial hypoplasia, collodian
  • EEC
    • Ectrodactylyl - Ectodermal dysplasia - Cleft lip/palate syndrome
  • ADULT syndrome
  • Split hand/foot malformation