Term Name: | inflammatory poikiloderma with hair abnormalities and acral keratoses |
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Synonyms: | IPHAK, LIPHAK, LIPHAK syndrome |
Definition: | A skin disease characterized by mottled hyper- and hypopigmentation of the skin, sparse scalp hair and eyelashes, sparse or absent eyebrows, and palmoplantar keratoses that has_material_basis_in homozygous mutation in the LTV1 gene on chromosome 6q24.2. |
Ontology: | Human Disease [DOID:0070510] ( DOID:0070510 ) |