Ectodermal dysplasia – skin fragility syndrome

ectodermal dysplasia-skin fragility syndrome is a rare form of suprabasal epidermolysis bullosa due to reduced or absent plakophilin 1 as the result of mutations in the PKP1 gene. It is characterised by erosions and crusting of the skin, Nail dystrophy, sparse woolly Hair and hyperkeratosis of the palms and soles.

Organ Affected

Skin System (Integumentary System)

Also Known As

Plakophilin 1 deficiency

ED â?? SF - [Ectodermal dysplasia â?? skin fragility] syndrome (MIM 604536)

EBS-plakophilin

Skin fragility - ectodermal dysplasia syndrome