inflammatory poikiloderma with hair abnormalities and acral keratoses

Term ID

DOID:0070510

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. https://pubmed.ncbi.nlm.nih.gov/34999892/

References

• OMIM:620199
• UMLS_CUI:C5774293

Ontology

Human Disease   ( DOID:0070510 )