palmoplantar keratoderma and woolly hair

Term ID

DOID:0070554

Synonyms

• keratoderma with woolly hair type IV
• PPKWH
• woolly hair-palmoplantar keratoderma syndrome type 4

Definition

A nonepidermolytic palmoplantar keratoderma characterized by striate palmoplantar keratoderma, sparse and woolly hair, leukonychia, and the absence of cardiomyopathy symptoms or findings on echocardiography and electrocardiogram that has_material_basis_in homozygous mutation in the KANK2 gene on chromosome 19p13.2. (2)

References

• MIM:616099
• ORDO:420686
• UMLS_CUI:C4015202
• UMLS_CUI:C4706686

Ontology

Human Disease   ( DOID:0070554 )