Preferred Label : Palmoplantar keratoderma, punctate type ia;
Symbol : PPKP1A;
CISMeF acronym : KPPP1; PPKP1A; PPKP1;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Keratodermia palmoplantaris papulosa, buschke-fischer-brauer type; PPKP1; Keratosis palmoplantaris papulosa; Palmoplantar keratoderma, punctate type I; KPPP1;
Description : Punctate palmoplantar keratoderma type I, also called keratosis punctate palmoplantaris
type Buschke-Fisher-Brauer, is a rare autosomal dominant hereditary skin disease characterized
by multiple hyperkeratotic centrally indented papules that develop in early adolescence
or later and are irregularly distributed on the palms and soles. In mechanically irritated
areas, confluent plaques can be found. Interfamilial and intrafamilial severity shows
broad variation. There have been reports of an association between PPKP and the development
of early- and late-onset malignancies, including squamous cell carcinoma (summary
by Giehl et al., 2012). Another form of PPKP type I has been mapped to chromosome
8q24 (PPKP1B; 614936). Other forms of punctate palmoplantar keratoderma include a
porokeratotic type (PPKP2; 175860) and focal acrohyperkeratosis (PPKP3; 101850). For
a general phenotypic description and a discussion of genetic heterogeneity of palmoplantar
keratoderma (PPK), see epidermolytic PPK (144200).;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutation in the alpha- and gamma-adaptin-binding protein gene (AAGAB, 614888.0001);
Prefixed ID : #148600;
Origin ID : 148600;
UMLS CUI : C1835662;
Automatic exact mappings (from CISMeF team)
- Broader ORDO disease(s)
- Currated CISMeF NLP mapping
- DO Cross reference
- Genes related to phenotype
- HPO term(s)
- Not associated HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
