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Porokeratosis 9, multiple types(POROK9)

MedGen UID:
894586
Concept ID:
C4225262
Disease or Syndrome
Synonym: POROK9
 
Gene (location): FDPS (1q22)
 
Monarch Initiative: MONDO:0014713
OMIM®: 616631

Definition

Porokeratosis is a rare skin disorder characterized by one or more annular plaques with a surrounding raised horny border that spreads centrifugally. Variants of porokeratosis have been described that differ in morphologic shapes, distribution, and clinical course (Schamroth et al., 1997). However, as noted by Sybert (2010), several families with expression of more than one variant of porokeratosis among members, and individuals expressing more than one variant, have been reported, suggesting that the distinctions among these variants may be artificial. Mutations in the FDPS gene have been found to cause multiple types of porokeratosis, which have been described as disseminated superficial actinic porokeratosis (DSAP) and nonactinic disseminated superficial porokeratosis (DSP). For a discussion of genetic heterogeneity of porokeratosis, see 174800. [from OMIM]

Clinical features

From HPO
Porokeratosis
MedGen UID:
56518
Concept ID:
C0162839
Congenital Abnormality
A clonal disorder of keratinization with one or multiple atrophic patches surrounded by a clinically and histologically distinctive hyperkeratotic ridgelike border called the cornoid lamella.

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