Pityriasis Rubra Pilaris

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

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.

Genes related to Pityriasis Rubra Pilaris

CARD14

View recommended genes panels

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

— 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.

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 Panel complete gene list SLC27A4, SNAP29, ST14, STS, TAT, TGM1, TGM5, VPS33B, ATP2C1, NSDHL, ALOXE3, WNT10A, SERPINB7, ELOVL4, ABCA12, MBTPS2, SPINK5, CARD14, CDSN, TRPV3, SLURP1, CLDN1, POMP, SUMF1, KRT6C, RHBDF2, GTF2H5, PNPLA1, ABHD5, LIPN, CERS3, CSTA, CTSC, AAGAB, CYP4F22, NIPAL4, DSG1, DSP, EBP, ENPP1, ERCC2, ERCC3, FLG, ALDH3A2, ALMS1, GJB2, GJB4, GJB6, ALOX12B, AP1S1, JUP, AQP5, KRT1, KRT10, KRT14, KRT16, KRT17, KRT2, KRT6A, KRT6B, KRT9, LOR, ATP2A2, PHYH 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 %

You can get up to 5 more panels with our dedicated tool

Learn more

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 MYASTHENIC SYNDROME, CONGENITAL, 12; CMS12 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A; XPA LONG QT SYNDROME 1; LQT1