Palmoplantar Keratoderma, Punctate Type Ia (PPKP1A)

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OMIM 57 148600 Disease Ontology 12 DOID:0080214 Orphanet 59 ORPHA79501 ICD10 via Orphanet 34 Q82.8

MedGen 42 C1835662 MeSH 44 D007645 SNOMED-CT via HPO 69 263681008 199879009 95320005 706885006 17790008 126859007 363418001 254838004 363406005 41607009 702391001 255109008 118599009 118602004 118605002 118606001 14537002 46923007 70600005 74189002 more UMLS 73 C1835662

OMIM : ⁵⁷ 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). (148600)

MalaCards based summary : Palmoplantar Keratoderma, Punctate Type Ia, also known as keratosis palmoplantaris papulosa, is related to punctate palmoplantar keratoderma and palmoplantar keratosis. An important gene associated with Palmoplantar Keratoderma, Punctate Type Ia is AAGAB (Alpha And Gamma Adaptin Binding Protein). Affiliated tissues include skin, colon and pancreas, and related phenotypes are abnormality of the nail and palmoplantar keratoderma

NIH Rare Diseases : ⁵³ Punctate palmoplantar keratoderma type I is a rare condition that affects the skin. It is a sub-type of punctate palmoplantar keratoderma. Signs and symptoms typically begin in early adolescence or later and include hard, round bumps of thickened skin on the palms of the hands and soles of the feet. These bumps can cause pain in some people. The condition is usually inherited in an autosomal dominant manner and can be caused by a mutation in the AAGAB gene. Treatment options may include removal of the thickened skin by a doctor or using a cream on the affected area. Some people have used surgical approaches consisting of excision and skin grafting.

UniProtKB/Swiss-Prot : ⁷⁵ Keratoderma, palmoplantar, punctate 1A: An autosomal dominant dermatological disorder characterized by multiple hyperkeratotic, centrally indented, papules that develop in early adolescence, or later, and are irregularly distributed on the palms and soles (other palmoplantar keratoses have mostly diffuse hyperkeratinization). In mechanically irritated areas, confluent plaques can be found. Interfamilial and intrafamilial severity shows broad variation. In some cases, PPKP1 is associated with the development of early- and late-onset malignancies, including squamous cell carcinoma.

Clinical features from OMIM:

148600

Search Clinical Trials , NIH Clinical Center for Palmoplantar Keratoderma, Punctate Type Ia

Search GEO for disease gene expression data for Palmoplantar Keratoderma, Punctate Type Ia.