Porokeratosis 3, Multiple Types (POROK3)

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OMIM 56 175900 OMIM Phenotypic Series 56 PS175800 MeSH 43 D017499

MedGen 41 C1867981 SNOMED-CT via HPO 68 200766001 263681008 65068000 80432009 87065009 more UMLS 71 C1867981

OMIM : ⁵⁶ Porokeratosis is a rare skin disorder characterized by one or more annular plaques with a surrounding raised horny border that spreads centrifugally. Variants of porokeratosis have been described that differ in morphologic shapes, distribution, and clinical course (Schamroth et al., 1997). However, as noted by Sybert (2010), several families with expression of more than one variant of porokeratosis among members, and individuals expressing more than one variant, have been reported, suggesting that the distinctions among these variants may be artificial. Mutations in the MVK gene have been found to cause multiple types of porokeratosis, which have been described as disseminated superficial actinic porokeratosis (DSAP), nonactinic disseminated superficial porokeratosis (DSP), porokeratosis of Mibelli, giant plaque of porokeratosis ptychotropica, hyperkeratotic porokeratosis, and linear porokeratosis. The preferred title of this entry was formerly 'Porokeratosis 3, Disseminated Superficial Actinic Type; POROK3.' Disseminated superficial actinic porokeratosis is the most common subtype of porokeratosis. It is characterized by multiple small, annular, anhidrotic, keratotic lesions that are located predominantly on sun-exposed areas of the skin, such as the face, neck, and distal limbs. The lesions typically begin to develop in adolescence and reach near-complete penetrance by the third or fourth decade of life (summary by Wu et al., 2004 and Zhang et al., 2012). For a discussion of genetic heterogeneity of porokeratosis, see 175800. (175900)

MalaCards based summary : Porokeratosis 3, Multiple Types, also known as porokeratosis, disseminated superficial actinic, 1, is related to porokeratosis and porokeratosis 4, disseminated superficial actinic type. An important gene associated with Porokeratosis 3, Multiple Types is MVK (Mevalonate Kinase). Affiliated tissues include skin, and related phenotypes are nail dystrophy and parakeratosis

UniProtKB/Swiss-Prot : ⁷³ Porokeratosis 3, multiple types: A form of porokeratosis, a disorder of faulty keratinization characterized by one or more atrophic patches surrounded by a distinctive hyperkeratotic ridgelike border called the cornoid lamella. The keratotic lesions can progress to overt cutaneous neoplasms, typically squamous cell carcinomas. Multiple clinical variants of porokeratosis are recognized, including porokeratosis of Mibelli, linear porokeratosis, disseminated superficial actinic porokeratosis, palmoplantar porokeratosis, and punctate porokeratosis. Different clinical presentations can be observed among members of the same family. Individuals expressing more than one variant have also been reported.

Clinical features from OMIM:

175900

Search Clinical Trials , NIH Clinical Center for Porokeratosis 3, Multiple Types

Search GEO for disease gene expression data for Porokeratosis 3, Multiple Types.