Porokeratosis 1, Mibelli type(POROK1)

MedGen UID:: 979560
•Concept ID:: CN297066
•: Disease or Syndrome

Synonyms:	POROK1; Porokeratosis 1, multiple types

Gene (location): Gene(s) directly associated with this condition or phenotype.	PMVK (1q21.3)

Monarch Initiative:	MONDO:0008290
OMIM®:	175800

Recent clinical studies

Etiology

Pruritic porokeratotic peno-scrotal plaques: porokeratosis or porokeratotic epidermal reaction pattern? A report of 10 cases.

Joshi R, Mehta SG
Indian J Dermatol Venereol Leprol 2014 Jan-Feb;80(1):24-8. doi: 10.4103/0378-6323.125474. PMID: 24448119

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Diagnosis

Linear porokeratosis with multiple squamous cell carcinomas successfully treated by electrochemotherapy.

Sommerlad M, Lock A, Moir G, McGregor J, Bull R, Cerio R, Harwood C
Br J Dermatol 2016 Dec;175(6):1342-1345. Epub 2016 Aug 17 doi: 10.1111/bjd.14669. PMID: 27086492

Pruritic porokeratotic peno-scrotal plaques: porokeratosis or porokeratotic epidermal reaction pattern? A report of 10 cases.

Joshi R, Mehta SG
Indian J Dermatol Venereol Leprol 2014 Jan-Feb;80(1):24-8. doi: 10.4103/0378-6323.125474. PMID: 24448119

See all (2)

Therapy

Linear porokeratosis with multiple squamous cell carcinomas successfully treated by electrochemotherapy.

Sommerlad M, Lock A, Moir G, McGregor J, Bull R, Cerio R, Harwood C
Br J Dermatol 2016 Dec;175(6):1342-1345. Epub 2016 Aug 17 doi: 10.1111/bjd.14669. PMID: 27086492

See all (1)

Clinical prediction guides

Porokeratoses: immunohistochemical, light and electron microscopic evaluation.

Jurecka W, Neumann RA, Knobler RM
J Am Acad Dermatol 1991 Jan;24(1):96-101. doi: 10.1016/0190-9622(91)70019-x. PMID: 1999539

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Porokeratosis 1, Mibelli type(POROK1)

Recent clinical studies

Etiology

Diagnosis

Therapy

Clinical prediction guides

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Genetic Testing Registry

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