Porokeratosis 9, Multiple Types (POROK9)

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OMIM 57 616631 MedGen 42 C4225262 CN233216

MeSH 44 D017499 SNOMED-CT via HPO 69 80432009

OMIM : ⁵⁷ 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 FDPS gene have been found to cause multiple types of porokeratosis, which have been described as disseminated superficial actinic porokeratosis (DSAP) and nonactinic disseminated superficial porokeratosis (DSP). For a discussion of genetic heterogeneity of porokeratosis, see 174800. (616631)

MalaCards based summary : Porokeratosis 9, Multiple Types, is also known as porok9. An important gene associated with Porokeratosis 9, Multiple Types is FDPS (Farnesyl Diphosphate Synthase). Affiliated tissues include skin, and related phenotype is porokeratosis.

UniProtKB/Swiss-Prot : ⁷⁵ Porokeratosis 9, 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:

616631

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