Psoriasis 14, Pustular; Psors14

Description

Generalized pustular psoriasis (GPP) is a life-threatening disease characterized by sudden, repeated episodes of high-grade fever, generalized rash, and disseminated pustules, with hyperleukocytosis and elevated serum levels of C-reactive protein (OMIM ) (summary by Marrakchi et al., 2011). GPP often presents in patients with existing or prior psoriasis vulgaris (PV; see {177900}); however, GPP can develop without a history of PV (Sugiura et al., 2013). Palmoplantar pustulosis and acrodermatitis continua of Hallopeau represent acral forms of pustular psoriasis that have historically been grouped with GPP (summary by Setta-Kaffetzi et al., 2013).GPP in association with sterile multifocal osteomyelitis and periostitis (OMIM ) is caused by mutation in the IL1RN gene (OMIM ).Capon (2013) noted that the percentage of GPP patients reported to be negative for mutation in IL36RN ranges from 51 to 84%, indicative of genetic heterogeneity in the generalized pustular form of psoriasis.For a discussion of genetic heterogeneity of psoriasis, see PSORS1 (OMIM ).

Clinical Features

Top most frequent phenotypes and symptoms related to Psoriasis 14, Pustular; Psors14

  • Pica
  • Fever
  • Erythema
  • Nail dystrophy
  • Nail dysplasia
  • Epidermal acanthosis
  • Inflammatory abnormality of the skin
  • Psoriasiform dermatitis
  • Leukocytosis
  • Pustule
And another 8 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.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Psoriasis 14, Pustular; Psors14 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
IL36RN.

By Institute for Human Genetics University Clinic Freiburg in Germany.

IL36RN
Specificity
100 %
Genes
50 %
Psoriasis, generalized pustular (sequence analysis of IL36RN gene).

By CGC Genetics in Portugal.

IL36RN
Specificity
100 %
Genes
50 %
Periodic Fever Syndromes Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

NLRP3, MVK, PSMB8, MEFV, NOD2, ELANE, LPIN2, TNFRSF1A, PSTPIP1, NLRP12, IL36RN, CARD14, TNFAIP3
Specificity
8 %
Genes
50 %
DITRA via the IL36RN Gene.

By PreventionGenetics PreventionGenetics in United States.

IL36RN
Specificity
100 %
Genes
50 %
IL36RN.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

IL36RN
Specificity
100 %
Genes
50 %
Autoinflammatory panel.

By Genome Diagnostics Laboratory University Medical Center Utrecht in Netherlands.

NLRP3, MVK, PSMB8, MEFV, SH3BP2, NOD2, LPIN2, TNFRSF1A, IL10RA, IL10RB, PSTPIP1, NLRP12, IL36RN, NCSTN, PSENEN, IL1RN, NLRP7, IL10, PLCG2
Specificity
6 %
Genes
50 %
Psoriasis, generalized pustular.

By Centogene AG - the Rare Disease Company in Germany.

IL36RN
Specificity
100 %
Genes
50 %
Single gene testing IL36RN.

By CeGaT GmbH in Germany.

IL36RN
Specificity
100 %
Genes
50 %
Autoinflammatory diseases Panel.

By CeGaT GmbH in Germany.

HFE, NLRP3, MVK, PSMB8, MEFV, SH3BP2, NOD2, SLC29A3, LPIN2, TNFRSF1A, IL10RA, IL10RB, PSTPIP1, NLRP12, IL36RN, CARD14, IL1RN, IL10, RBCK1, PLCG2
Specificity
5 %
Genes
50 %
Invitae Primary Immunodeficiency Panel.

By Invitae in United States.

PMS2, STAT1, SLC37A4, CASP8, TLR3, HAX1, AP3B1, UNG, TAP1, TAZ, TCN2, AK2, SLC35C1, CYBA, STAT3, ADA, MOGS, IL2RG, PNP, AIRE , (...)

View the complete list with 187 more genes
Specificity
1 %
Genes
50 %
Invitae Autoinflammatory Syndromes Panel.

By Invitae in United States.

NLRP3, MVK, PSMB8, MEFV, SH3BP2, NOD2, SLC29A3, ELANE, LPIN2, TNFRSF1A, IL10RA, NLRC4, IL10RB, ADA2, PSTPIP1, NLRP12, TRNT1, IL36RN, CARD14, IL1RN , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
50 %
IL36RN.

By Fulgent Genetics Fulgent Genetics in United States.

IL36RN
Specificity
100 %
Genes
50 %
Primary Immunodeficiency Panel.

By Blueprint Genetics in Finland.

PMS2, RECQL4, STAT1, SLC37A4, CASP8, CLCN7, HAX1, AP3B1, UNG, TAP1, TCN2, AK2, SLC35C1, CYBA, STAT3, ADA, MOGS, IL2RG, PNP, AIRE , (...)

View the complete list with 255 more genes
Specificity
1 %
Genes
50 %
Autoinflammatory Syndrome Panel.

By Blueprint Genetics in Finland.

SAMHD1, RNASEH2A, RNASEH2C, RNASEH2B, TREX1, NLRP3, MVK, PSMB8, IFIH1, ADAR, MEFV, NOD2, SLC29A3, ELANE, LPIN2, TNFRSF1A, NLRC4, ISG15, PSTPIP1, NLRP12 , (...)

View the complete list with 12 more genes
Specificity
4 %
Genes
50 %
Generalized Pustular Psoriasis , Sequencing IL36RN Gene.

By Reference Laboratory Genetics in Spain.

IL36RN
Specificity
100 %
Genes
50 %
AP1S3.

By Institute for Human Genetics University Clinic Freiburg in Germany.

AP1S3
Specificity
100 %
Genes
50 %

Alternate names

Psoriasis 14, Pustular; Psors14 Is also known as interleukin 36 receptor antagonist deficiency;ditra, generalized pustular psoriasis;gpp, psorp, acrodermatitis continua of hallopeau, palmoplantar pustulosis;gpp.



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like UV-SENSITIVE SYNDROME 2; UVSS2

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more