Catalog

Skin fragility-woolly hair syndrome

No MMS code

Link to WHO Definition

Skin fragility-woolly hair syndrome – http://id.who.int/icd/entity/300709759

A rare autosomal recessive form of suprabasal epidermolysis bullosa due to mutations in the DSP gene encoding desmoplakin. It presents in early infancy with cutaneous, erosions and crusts, sparse woolly hair and palmoplantar keratoderma.