POROKERATOSIS 7, DISSEMINATED SUPERFICIAL ACTINIC TYPE

General Information (adopted from Orphanet):

Synonyms, Signs: POROK7
Number of Symptoms 7
OrphanetNr:
OMIM Id: 614714
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) Papules enlarge centrifugally to form central atrophic area with an irregular keratotic ridge 1 / 7739
3
(OMIM) Small conically shaped papules (1 to 3 mm in diameter) located on face, neck, trunk, and limbs 1 / 7739
4
(OMIM) Column of parakeratotic cells (cornoid lamella) overlying absent granular layer 2 / 7739
5
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
6
(OMIM) Invagination of the epidermis 1 / 7739
7
(OMIM) Linear porokeratosis (1 patient) 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 Luan et al. (2011) reported a 4-generation Chinese family from the Anhui province with disseminated superficial actinic porokeratosis. The average age at onset was 28 years, but the earliest onset was at age 16. The skin lesions were ...