Preferred Label : Skin fragility-woolly hair syndrome;
ICD-11 definition : 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.;
ICD-11 synonym : EBS-desmoplakin; Desmoplakin deficiency;
Origin ID : 300709759;
Automatic exact mappings (from CISMeF team)
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.
