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. |
None (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. |
None (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. [^] |
| 19. |
Orphanet article Orphanet ID 79358 [^] |
| 20. |
OMIM.ORG article Omim 175900 [^] |
