POROKERATOSIS 6, DISSEMINATED SUPERFICIAL ACTINIC TYPE

General Information (adopted from Orphanet):

Synonyms, Signs: POROKERATOSIS, DISSEMINATED SUPERFICIAL ACTINIC, 4
POROK6
DSAP4
Number of Symptoms 7
OrphanetNr:
OMIM Id: 612353
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) Linear porokeratosis (1 patient) 2 / 7739
3
(OMIM) Annular lesions (3 mm to 1 cm in diameter) located on the face, neck, trunk and limbs 1 / 7739
4
(OMIM) Cornoid lamella 1 / 7739
5
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
6
(OMIM) Keratotic ridge is column of parakeratotic cells overlying absent granular layer 1 / 7739
7
(OMIM) Papules enlarge centrifugally to form central atrophic area with an irregular peripheral keratotic ridge 1 / 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 Wei et al. (2004) reported a large 4-generation family from the Anhui province in China with disseminated superficial porokeratosis. The youngest affected individual was a girl who developed annular brown scaling lesions with central atrophy in a linear ...