Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
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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.

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

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2.

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

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3.

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

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4.

Moreland ME et al. (1981) Porokeratosis. Two morphologic forms within a family.

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5.

Anderson DE et al. (1969) Disseminated superficial actinic porokeratosis. Genetic aspects.

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6.

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

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7.

None (1972) Linear porokeratosis in a family with DSAP.

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8.

Chernosky ME et al. (1967) Disseminated superficial actinic porokeratosis (DSAP).

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9.

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

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10.

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

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11.

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

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12.

None (1991) Somatic recombination may explain linear porokeratosis associated with disseminated superficial actinic porokeratosis.

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13.

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

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14.

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

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15.

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

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16.

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

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17.

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

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18.

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

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19.

Orphanet article

Orphanet ID 79358 external link
20.

OMIM.ORG article

Omim 175900 external link
Update: 14. August 2020
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