Term Name: | palmoplantar keratoderma and woolly hair |
---|---|
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. |
Ontology: | Human Disease [DOID:0070554] ( DOID:0070554 ) |