Porokeratose 3

Porokeratose 3 ist eine seltene autosomal dominante Hauterkrankung, die durch Mutationen des MVK-Gens hervorgerufen wird. Die Hauterscheinung besteht in ringförmigen keratotischen Plaques, die sich zentrifugal ausbreiten. Die erscheinen vor allem an sonnenexponierten Stellen mit dem Begin des Erwachsenenalters.

Gliederung

Mevalonat-Kinase assoziierte entzündliche Erkrankungen
	Hyper-IgD-Syndrom
	Mevalonsäure-Azidurie
	Porokeratose 3
		MVK

Referenzen:

1.	Wu LQ et al. (2004) Confirmation and refinement of a genetic locus for disseminated superficial actinic porokeratosis (DSAP1) at 12q23.2-24.1. [^]

2.	Zhang SQ et al. (2012) Exome sequencing identifies MVK mutations in disseminated superficial actinic porokeratosis. [^]

3.	Xia JH et al. (2000) Identification of a locus for disseminated superficial actinic porokeratosis at chromosome 12q23.2-24.1. [^]

4.	Zhang Z et al. (2004) Fine mapping and identification of a candidate gene SSH1 in disseminated superficial actinic porokeratosis. [^]

5.	Zhang ZH et al. (2005) A mutation in SART3 gene in a Chinese pedigree with disseminated superficial actinic porokeratosis. [^]

6.	Frank J et al. (2007) Loss of heterozygosity studies on chromosome 12q in disseminated superficial actinic porokeratosis: lessons to be learned. [^]

7.	Frank J et al. (2007) Lack of SSH1 mutations in Dutch patients with disseminated superficial actinic porokeratosis: is there really an association? [^]

8.	Happle R et al. (1991) Somatic recombination may explain linear porokeratosis associated with disseminated superficial actinic porokeratosis. [^]

9.	Cao HM et al. (2012) Identification of a locus (DSP2) for disseminated superficial porokeratosis at chromosome 12q21.2-24.21. [^]

10.	Commens CA et al. (1987) Linear porokeratosis in two families with disseminated superficial actinic porokeratosis. [^]

11.	Rahbari H et al. (1974) Linear porokeratosis. A distinctive clinical variant of porokeratosis of Mibelli. [^]

12.	Chernosky ME et al. (1967) Disseminated superficial actinic porokeratosis (DSAP). [^]

13.	Welton WA et al. (1972) Linear porokeratosis in a family with DSAP. [^]

14.	Chernosky ME et al. (1969) Disseminated superficial actinic porokeratosis. Clinical studies and experimental production of lesions. [^]

15.	Anderson DE et al. (1969) Disseminated superficial actinic porokeratosis. Genetic aspects. [^]

16.	Moreland ME et al. (1981) Porokeratosis. Two morphologic forms within a family. [^]

17.	Schamroth JM et al. (1997) Porokeratosis of Mibelli. Overview and review of the literature. [^]

18.	Pirozzi DJ et al. (1976) Disseminated superficial actinic porokeratosis. Analysis of an affected family. [^]