Palmoplantar Keratoderma and Congenital Alopecia 2 (PPKCA2)

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Disease Ontology 12 DOID:0111245 OMIM 57 212360 MeSH 44 C535336 MESH via Orphanet 45 C535336 ICD10 via Orphanet 34 Q82.8 Q84.0

UMLS via Orphanet 73 C1859316 Orphanet 59 ORPHA1366 MedGen 42 C1859316 UMLS 72 C1859316

NIH Rare Diseases : ⁵³ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1366DefinitionAutosomal recessive palmoplantar hyperkeratosis and congenital alopecia (PPK-CA) is a rare genetic skin disorder characterized by congenital alopecia and palmoplantar hyperkeratosis. It is usually associated with cataracts, progressive sclerodactyly and pseudo-ainhum.EpidemiologyTo date, autosomal recessive PPK-CA has been reported in two families (seven affected individuals). An additional sporadic patient was likely affected by the same condition.Clinical descriptionSimilarly to the dominant variant, autosomal recessive PPK-CA usually presents during infancy. Its very early onset is often characterized by fading of facial, scalp and body hair within the first months of life without subsequent re-growth. Body and facial keratosis pilaris are additional features which appear in the following years. Skin thickening of palms and soles develops during infancy and may have an unusual pattern affecting the two sides of fingers and palms, but usually sparing the palmar surfaces. Periungueal involvement is typical and leads to secondary nail dystrophy. Autosomal recessive PPK-CA shows a relatively more severe evolution compared to the dominant variant as many patients develop sclerodactyly, small joint contractures and pseudo-ainhum. The original family also had congenital cataract.EtiologyThe genetic basis of autosomal recessive PPK-CA is unknown.Genetic counselingTransmission appears to be autosomal recessive.Visit the Orphanet disease page for more resources.

MalaCards based summary : Palmoplantar Keratoderma and Congenital Alopecia 2, also known as cataract-alopecia-sclerodactyly syndrome, is related to bile duct cancer and pancreatic cancer, and has symptoms including dry skin The drugs Vaccines and Immunologic Factors have been mentioned in the context of this disorder. Affiliated tissues include skin, heart and bone, and related phenotypes are cataract and joint stiffness

Disease Ontology : ¹² An ectodermal dysplasia characterized by autosomal recessive inheritance of alopecia, progressive palmoplantar hyperkeratosis resulting in sclerodactyly and usually associated with cataracts and pseudoainhum formation.

OMIM : ⁵⁷ Palmoplantar keratoderma and congenital alopecia-2 (PPKCA2) is an autosomal recessive disorder characterized by congenital alopecia and progressive hyperkeratosis resulting in sclerodactyly, severe contractures and tapering of the digits, and pseudoainhum formation. Nail changes occur in some patients (Castori et al., 2010). Also see PPKCA1 (104100), a less severe, autosomal dominant disorder. (212360)

Clinical features from OMIM:

212360

Search NIH Clinical Center for Palmoplantar Keratoderma and Congenital Alopecia 2

Search GEO for disease gene expression data for Palmoplantar Keratoderma and Congenital Alopecia 2.