PPKP1A
MCID: PLM159
MIFTS: 36
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Palmoplantar Keratoderma, Punctate Type Ia (PPKP1A)
Categories:
Cancer diseases, Genetic diseases, Rare diseases, Skin diseases
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MalaCards integrated aliases for Palmoplantar Keratoderma, Punctate Type Ia:
Name: Palmoplantar Keratoderma, Punctate Type Ia
56
Characteristics:Orphanet epidemiological data:58
punctate palmoplantar keratoderma type 1
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Croatia),1-9/100000 (Slovenia); Age of onset: Adolescent,Adult; Age of death: normal life expectancy; OMIM:56
Inheritance:
autosomal dominant
Miscellaneous:
inter- and intrafamilial phenotypic variability (subtle to painful and debilitating) onset in first to second decade keratoses on soles tend to be more severe lesions increase in number with advancing age and coalesce to form larger lesions HPO:31
palmoplantar keratoderma, punctate type ia:
Inheritance autosomal dominant inheritance heterogeneous Onset and clinical course late onset Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases Anatomical: Skin diseases
ICD10:
33
Orphanet: 58
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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. |
Diseases in the Punctate Palmoplantar Keratoderma family:
Diseases related to Palmoplantar Keratoderma, Punctate Type Ia via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of the top 20 diseases related to Palmoplantar Keratoderma, Punctate Type Ia:![]() |
Human phenotypes related to Palmoplantar Keratoderma, Punctate Type Ia:31 58 (show all 12)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:148600 |
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MalaCards organs/tissues related to Palmoplantar Keratoderma, Punctate Type Ia:40
Skin,
Colon,
Pancreas,
Breast
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Articles related to Palmoplantar Keratoderma, Punctate Type Ia:(show all 11)
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ClinVar genetic disease variations for Palmoplantar Keratoderma, Punctate Type Ia:6
Cosmic variations for Palmoplantar Keratoderma, Punctate Type Ia:9 (show top 50) (show all 350)
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Search
GEO
for disease gene expression data for Palmoplantar Keratoderma, Punctate Type Ia.
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