Rare, autosomal recessive disorder occurring between the first and fifth years of life. It is characterized by palmoplantar keratoderma with periodontitis followed by the premature shedding of both deciduous and permanent teeth. Mutations in the gene for CATHEPSIN C have been associated with this disease.

DUI

D010214 MeSH Browser

CUI

M0015840

History note

91(75); was see under KERATOSIS PALMARIS ET PLANTARIS 1975-90 (which became KERATODERMA, PALMOPLANTAR 1993)

Online note

search KERATODERMA, PALMOPLANTAR 1974

Public note

91; was see under KERATOSIS PALMARIS ET PLANTARIS 1975-90 (which became KERATODERMA, PALMOPLANTAR 1993)