Preferred Label : Porokeratosis 4, disseminated superficial actinic type;
Symbol : POROK4;
CISMeF acronym : DSAP2; POROK4;
Type : Phenotype or locus, molecular basis unknown;
Alternative titles and symbols : DSAP2; Porokeratosis, disseminated superficial actinic, 2;
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.;
Prefixed ID : %607728;
Origin ID : 607728;
UMLS CUI : C1843180;
Automatic exact mappings (from CISMeF team)
- Broader ORDO disease(s)
- CISMeF manual mappings
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
