Hay-Wells syndrome

Hay-Wells syndrome, also called AEC syndrome, is a very rare inherited form of ectodermal dysplasia, one of at least 150 known disorders that affect the skin, hair, nails and other tissues arising from the embryonic ectodermal layer. It follows an autosomal dominant pattern and is linked to missense mutations in the TP63 (p63) gene, which guides the development and upkeep of the epidermis. Affected people typically have coarse, sparse hair, sparse or absent eyelashes, small or malformed teeth, malformed or missing nails and reduced sweating, together with chronic scalp dermatitis. Cleft palate and eyelid margins joined by fibrous bands (ankyloblepharon filiforme adnatum) help tell it apart from other ectodermal dysplasias. Diagnosis rests largely on the physical findings, and fewer than 100 affected people had been described in the medical literature when the source article was written.