POROKERATOSIS 3, DISSEMINATED SUPERFICIAL ACTINIC TYPE

General Information (adopted from Orphanet):

Synonyms, Signs: POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC, 1
POROK3
DSAP
DSAP1
Number of Symptoms 4
OrphanetNr:
OMIM Id: 175900
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0200044) Porokeratosis 11 / 7739
2
(OMIM) Central atrophic area has a peripheral keratotic ridge 1 / 7739
3
(OMIM) Small, annular, anhidrotic keratotic lesions located predominantly on sun-exposed areas 1 / 7739
4
(OMIM) Column of parakeratotic cells (cornoid lamella) overlying absent granular layer 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Chernosky and Freeman (1967) first suggested the existence of a photosensitive variety of porokeratosis. Lesions, which occur almost only in sun-exposed areas of the skin, develop after age 16 years, with penetrance nearly complete by age 30 or ...
Molecular genetics OMIM By exome sequencing of 3 members (2 affected and 1 unaffected) of a 4-generation Chinese family with autosomal dominant DSAP, Zhang et al. (2012) identified a heterozygous mutation in the MVK gene (251170.0009). Sanger sequencing confirmed that the ...