Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Porokeratosis 3 is a rare autosomal dominant skin disorder caused by mutations of the MVK gene. The skinleasions are typically annular plaques with a keratotic brim. They spread centrifugally. They first appear on sun-exposed skin with adolescent age.
Mevalonate kinase-associated inflammatory diseases
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Hyper-IgD syndrome
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Mevalonic aciduria
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Porokeratosis 3
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MVK
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| 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. |
Toplak N et al. (2012) An international registry on autoinflammatory diseases: the Eurofever experience.
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| 19. |
Shinar Y et al. (2020) ISSAID/EMQN Best Practice Guidelines for the Genetic Diagnosis of Monogenic Autoinflammatory Diseases in the Next-Generation Sequencing Era.
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| 20. |
Touitou I et al. (2004) Infevers: an evolving mutation database for auto-inflammatory syndromes.
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| 21. |
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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| 22. |
Orphanet article Orphanet ID 79358
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| 23. |
OMIM.ORG article Omim 175900
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