PLACK syndrome

Term ID

DOID:0070526

Synonyms

• peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads

Definition

An skin disease characterized by peeling skin in association with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads that has_material_basis_in homozygous mutation in the CAST gene on chromosome 5q15. https://pubmed.ncbi.nlm.nih.gov/25683118/

References

• MIM:616295
• ORDO:444138
• SNOMEDCT_US_2023_03_01:1237509001
• UMLS_CUI:C4225381

Ontology

Human Disease   ( DOID:0070526 )