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Linear and disseminated porokeratosis in one family showing identical and independent second hits in MVD among skin lesions, respectively: a proof‐of‐concept study

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Porokeratosis is an autosomal dominant skin disorder characterized by annular or circular skin lesions surrounded by a hyperkeratotic rim called "cornoid lamella".1 Clinical subtypes of porokeratosis have been classified mostly… Click to show full abstract

Porokeratosis is an autosomal dominant skin disorder characterized by annular or circular skin lesions surrounded by a hyperkeratotic rim called "cornoid lamella".1 Clinical subtypes of porokeratosis have been classified mostly based on age at onset, and the distribution and size of skin lesions.1 It has been demonstrated that most patients with porokeratosis have a heterozygous germline mutation in genes that encode enzymes of the mevalonate pathway, MVK, MVD, PMVK, or FDPS, in both familial and sporadic cases.

Keywords: skin lesions; porokeratosis; one family; linear disseminated; porokeratosis one; disseminated porokeratosis

Journal Title: British Journal of Dermatology
Year Published: 2021

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