Porokeratosis [5 genes]

Porokeratosis is a rare skin disorder characterized by the appearance of one or more annular plaques with a raised horny edge that extends centrifugally. There are different forms of porokeratosis based on its morphology, distribution, and clinical course of the lesions. However, families have been described with more than one variant of porokeratosis among their members, and several individuals who express more than one variant of the disease.

The main forms of the disease with an identified genetic cause are the following:

  • Disseminated superficial actinic porokeratosis.
  • Porokeratosis of Mibelli.

  • Disseminated superficial actinic porokeratosis: unknown (ORPHA:79152).
  • Porokeratosis of Mibelli: unknown (ORPHA:735).

Recommended service when porokeratosis is diagnosed to assess a possible known genetic cause based on current knowledge. The genetic study is the only possible way to detect those patients with porokeratosis secondary to well-characterized genetic mutations that allow specific family genetic counseling.

The benefits derived from a genetic diagnosis in this context are aimed at completing the analysis of the etiology of the disease in the patient and family genetic counseling.

Service indicated after the diagnosis of porokeratosis in a patient or family.

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Porokeratosis

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Technique: Exome

Turnaround time (TAT): 25 days

Ref. S-202313143

Porokeratosis: View panel

Virtual panel based on whole exome sequencing, aimed at the analysis of high-evidence genes related to porokeratosis.

  • FDPS
  • MVD
  • MVK
  • PMVK
  • SLC17A9

Priority Genes : Genes where there is sufficient evidence (clinical and functional) to consider them associated with the disease; they are included in the clinical practice guidelines.
Secondary Genes: Genes related to the disease, but with a lower level of evidence or that constitute sporadic cases.
* Candidate Genes: Not enough evidence in humans, but potentially associated with the disease.

Phenotypes

  • Disseminated superficial actinic porokeratosis.
  • Porokeratosis of Mibelli.
  • Porokeratosis, multiple types

References

  1. Online Mendelian Inheritance in Man, OMIM®. Johns Hopkins University, Baltimore, MD. MIM Number: {175800}: {05/14/2019}: . World Wide Web URL: https://omim.org/