Ectodermal Dysplasia - Genetics

Genetics

ED can be classified by inheritance (autosomal dominant, autosomal recessive, and X-linked) or by which structures are involved (hair, teeth, nails, and/or sweat glands).

There are several different types with distinct genetic causes:

• Hay-Wells syndrome, Rapp-Hodgkin syndrome and EEC syndrome are all associated with TP63.
• Hypohidrotic ectodermal dysplasia can be associated with EDA, EDAR, and EDARADD
• Margarita Island ectodermal dysplasia is associated with PVRL1
• Ectodermal dysplasia with skin fragility is associated with PKP1
• Clouston's hidrotic ectodermal dysplasia is associated with GJB6
• Naegeli syndrome/Dermatopathia pigmentosa reticulariss is associated with KRT14
• Pachyonychia congenita is caused by multiple keratins
• Focal dermal hypoplasia is associated with PORCN
• Ellis–van Creveld syndrome is associated with EVC
• Palmoplantar ectodermal dysplasia refers to several different conditions selectively affecting the hands and feet