Preferred Label : Porokeratosis 3, multiple types;
Symbol : POROK3;
CISMeF acronym : DSAP1; POROK3;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Porokeratosis, disseminated superficial actinic, 1; DSAP1;
Description : 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), the existence
of several families with expression of more than one variant of porokeratosis among
members, and individuals expressing more than one variant, suggest that the distinctions
among these variants may be artificial. Disseminated superficial actinic porokeratosis
(DSAP) is the most common subtype of porokeratosis. It is characterized by multiple
small, annular, anhidrotic, keratotic lesions that are located predominantly on sun-exposed
areas of the skin, such as the face, neck, and distal limbs. The lesions typically
begin to develop in adolescence and reach near-complete penetrance by the third or
fourth decade of life (summary by Wu et al., 2004 and Zhang et al., 2012). For a discussion
of genetic heterogeneity of porokeratosis, see 175800.;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutation in the mevalonate kinase gene (MVK, 251170.0009);
Prefixed ID : #175900;
Origin ID : 175900;
UMLS CUI : C1867981;
Broader ORDO disease(s)
- Currated CISMeF NLP mapping
- False automatic mappings
- Genes related to phenotype
- HPO term(s)
- ORDO concept(s)
- See also inter- (CISMeF)
- Semantic type(s)
- UMLS correspondences (same concept)
