Pityriasis Rubra Pilaris

Description

Pityriasis rubra pilaris is a rare chronic papulosquamous disorder of unknown etiology characterized by small follicular papules, scaly red-orange patches, and palmoplantar hyperkeratosis, which may progress to plaques or erythroderma. Although most of the cases are sporadic and acquired, a familial form of the disease exists.

Clinical Features

Top most frequent phenotypes and symptoms related to Pityriasis Rubra Pilaris

  • Neoplasm
  • Pain
  • Hyperkeratosis
  • Erythema
  • Papule
  • Pruritus
  • Ichthyosis
  • Sleep disturbance
  • Palmoplantar keratoderma
  • Eczema

And another 18 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

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.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Pityriasis Rubra Pilaris Recommended genes panels

Panel Name, Specifity and genes Tested/covered
CARD14.

By Institute for Human Genetics University Clinic Freiburg (Germany).

CARD14
Specificity
100 %
Genes
100 %
Psoriasis susceptibility 2 (sequence analysis of CARD14 gene).

By CGC Genetics (Portugal).

CARD14
Specificity
100 %
Genes
100 %
Familial Pityriasis Rubra Pilaris (PRP) via CARD14 Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

CARD14
Specificity
100 %
Genes
100 %
Periodic Fever Syndromes Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

TNFAIP3, TNFRSF1A, LPIN2, IL36RN, NLRP3, CARD14, NLRP12, ELANE, NOD2, MEFV, MVK, PSMB8, PSTPIP1
Specificity
8 %
Genes
100 %
Pityriasis rubra pilaris.

By Centogene AG - the Rare Disease Company (Germany).

CARD14
Specificity
100 %
Genes
100 %
Psoriasis type 2.

By Centogene AG - the Rare Disease Company (Germany).

CARD14
Specificity
100 %
Genes
100 %
Ichthyoses and related disorders of cornification Panel.

By CeGaT GmbH (Germany).

SLC27A4, SNAP29, ST14, STS, TAT, TGM1, TGM5, VPS33B, ATP2C1, NSDHL, ALOXE3, WNT10A, SERPINB7, ELOVL4, ABCA12, MBTPS2, SPINK5, CARD14, CDSN, TRPV3 , (...)

View the complete list with 44 more genes
Specificity
2 %
Genes
100 %
Autoinflammatory diseases Panel.

By CeGaT GmbH (Germany).

SH3BP2, TNFRSF1A, LPIN2, IL36RN, RBCK1, NLRP3, CARD14, NLRP12, SLC29A3, HFE, NOD2, IL10, IL10RA, IL10RB, IL1RN, MEFV, MVK, PLCG2, PSMB8, PSTPIP1
Specificity
5 %
Genes
100 %

We have 5 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like VITREORETINOCHOROIDOPATHY; VRCP WITKOP SYNDROME DYSTONIA 12; DYT12 EHLERS-DANLOS SYNDROME TYPE 7B

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more