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GTR Home > > Familial Pityriasis Rubra Pilaris (CARD14 Single Gene Test)

Familial Pityriasis Rubra Pilaris (CARD14 Single Gene Test)

  • GTR Test IDHelp: GTR000566074.1
  • Last updated: 2019-03-21
  • Test version history

Clinical testHelp for Pityriasis rubra pilaris
Offered by Fulgent Genetics

Indication

This is a clinical test intended for Help: Diagnosis, Mutation Confirmation

Clinical summary

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Imported from OMIM

Pityriasis rubra pilaris is an uncommon skin disorder characterized by the appearance of keratotic follicular papules, well-demarcated salmon-colored erythematous plaques covered with fine powdery scales interspersed with distinct islands of uninvolved skin, and palmoplantar keratoderma. Most cases are sporadic, although up to 6.5% of PRP-affected individuals report a positive family history. The rare familial cases show autosomal dominant inheritance with incomplete penetrance and variable expression: the disorder is usually present at birth or appears during the first years of life and is characterized by prominent follicular hyperkeratosis, diffuse palmoplantar keratoderma, and erythema, with only a modest response to treatment (summary by Fuchs-Telem et al., 2012).

Clinical features

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Imported from Human Phenotype Ontology (HPO)

  • Ectropion
  • Parakeratosis
  • Subungual hyperkeratosis
  • Keratosis pilaris
  • Erythematous plaque
  • Orthokeratosis
  • Hypergranulosis
  • Palmoplantar keratoderma
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Conditions tested

Target population

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Not provided

Clinical validity

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Not provided

Clinical utility

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Not provided

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