Ectodermal dysplasia/skin fragility syndrome

Very rare dysplasia syndrome (<20 cases have been described: Kashyap S et al. 2015) with associated palmoplantar keratosis. It is caused by an autosomla recessive mutation in the PKP1 gene, which codes for plakophilin, a desomosomal structural protein.

Clinically, the clinical picture is characterized by a conspicuous skin vulnerability, blistering,
palmoplantar keratosis, abnormal hair growth (woolly hair), nail dystrophy and inconstant by a reduced tendency to sweat (hypohidrosis).

The disruption of plakophilin synthesis leads to reduced intercellular adhesion. The number, size and stability of desmosomes are reduced and keratin anchorage is disturbed. In addition, keratin aggregates are formed in the cytoplasm.

1. Kashyap S et al (2015) Ectodermal Dysplasia-Skin Fragility Syndrome: A Rare Case Report.
   Indian J Dermatol 60:421.
2. Bergman RH et al (2005) Histopathological and ultrastructural study of ectodermal dysplasia/skinfragility syndrome. On J Dermatopathol 27:333-338.