Porokeratosis 8, Disseminated Superficial Actinic Type; Porok8

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 shape, 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}.

Clinical Features

Phenotypes and symptoms related to Porokeratosis 8, Disseminated Superficial Actinic Type; Porok8

  • Carcinoma
  • Papule
  • Porokeratosis

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Porokeratosis 8, Disseminated Superficial Actinic Type; Porok8 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
SLC17A9.

By Fulgent Genetics Fulgent Genetics (United States).

SLC17A9
Specificity
100 %
Genes
100 %

You can get up to -7 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like LEUKODYSTROPHY, HYPOMYELINATING, 11; HLD11 MENTAL RETARDATION, X-LINKED 21; MRX21 DEAFNESS, AUTOSOMAL RECESSIVE 93; DFNB93 THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME; TRMA MENTAL RETARDATION, X-LINKED, SYNDROMIC, CHRISTIANSON TYPE; MRXSCH ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, CHROMOSOME 16-RELATED MEESTER-LOEYS SYNDROME; MRLS