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 33 Q82.8 Q84.0

UMLS via Orphanet 71 C1859316 Orphanet 58 ORPHA1366 MedGen 41 C1859316 SNOMED-CT via HPO 68 128306009 16386004 193570009 19754005 19988008 201051000 202281000 20255002 238879003 246635007 247053007 258211005 26996000 271811009 297957009 298285004 396228006 397540003 398909004 399955009 609587005 706885006 79410001 7973008 84445001 87065009 95325000 more UMLS 70 C1859316

GARD : ²⁰ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1366 Definition Autosomal 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. Epidemiology To 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 description Similarly 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. Etiology The genetic basis of autosomal recessive PPK-CA is unknown. Genetic counseling Transmission appears to be autosomal recessive.

MalaCards based summary : Palmoplantar Keratoderma and Congenital Alopecia 2, also known as cataract-alopecia-sclerodactyly syndrome, is related to childhood apraxia of speech and cold agglutinin disease, and has symptoms including dry skin An important gene associated with Palmoplantar Keratoderma and Congenital Alopecia 2 is IFRD2 (Interferon Related Developmental Regulator 2). Affiliated tissues include eye and skin, 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) (Updated 05-Apr-2021)

Clinical features from OMIM®:

212360 (Updated 05-Apr-2021)

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