Preferred Label : Porokeratosis 2, palmar, plantar, and disseminated type;
Symbol : POROK2;
CISMeF acronym : POROK2;
Type : Phenotype or locus, molecular basis unknown;
Alternative titles and symbols : Porokeratosis palmaris et plantaris disseminata; PPPD; Porokeratosis plantaris palmaris et disseminata; Porokeratosis, palmar, plantar, and disseminated; Porokeratosis, palmar, plantar, and disseminated, 1; PPPD1;
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. Porokeratosis palmaris plantaris et disseminata
(PPPD) is a subtype in which lesions initially develop on the palms and soles, but
later involve other parts of the body, including the trunk and limbs (Wei et al.,
2003).;
Inheritance : Autosomal dominant;
Prefixed ID : %175850;
Origin ID : 175850;
UMLS CUI : C0162838;
Currated CISMeF NLP mapping
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
- Validated automatic mappings to NTBT
