Palmoplantar Keratoderma, Punctate Type Ia (PPKP1A)

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Disease Ontology 12 DOID:0080214 OMIM 56 148600 MeSH 43 D007645 ICD10 via Orphanet 33 Q82.8

Orphanet 58 ORPHA79501 MedGen 41 C1835662 SNOMED-CT via HPO 68 118599009 118602004 118605002 118606001 126859007 14537002 17790008 254838004 255109008 263681008 363406005 363418001 41607009 46923007 702391001 70600005 706885006 708474007 74189002 more UMLS 71 C1835662

OMIM : ⁵⁶ 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 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 punctate palmoplantar hyperkeratosis and palmoplantar keratoderma

Disease Ontology : ¹² A punctate palmoplantar keratoderma that is characterized by multiple hyperkeratotic centrally indented papules that develop in early adolescence or later and are irregularly distributed on the palms and soles.

NIH Rare Diseases : ⁵² 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 : ⁷³ 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

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