MCID: PSR021
MIFTS: 38

Psoriasis 14, Pustular

Categories: Genetic diseases, Rare diseases, Skin diseases, Bone diseases, Blood diseases

Aliases & Classifications for Psoriasis 14, Pustular

MalaCards integrated aliases for Psoriasis 14, Pustular:

Name: Psoriasis 14, Pustular 54 50 24 71
Generalized Pustular Psoriasis 50 24 25 56 71 69
Gpp 50 25 56 71
Ditra 25 56 71
Deficiency of the Interleukin-36 Receptor Antagonist 25
Generalized Pustular Psoriasis of Von Zumbusch 25
Interleukin 36 Receptor Antagonist Deficiency 71
Acute Generalised Pustular Psoriasis 25
Acrodermatitis Continua of Hallopeau 71
Acute Generalized Pustular Psoriasis 69
Interleukin 36 Receptor Antagonist 13
Deficiency of Il-36r Antagonist 56
Pustular Psoriasis, Generalized 29
Psoriasis, Generalized Pustular 13
Pustulosis of Palms and Soles 69
Palmoplantar Pustulosis 71
Von Zumbusch Psoriasis 25
Deficiency of Il-36ra 56
Psors14 71
Psorp 71

Characteristics:

Orphanet epidemiological data:

56
generalized pustular psoriasis
Inheritance: Autosomal recessive,Not applicable; Age of onset: Adult;
ditra
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: All ages;

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
most patients have recurrent 'flares' of pustular rash with fever, although some develop chronic erythematous plaques without pustules


HPO:

32
psoriasis 14, pustular:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Psoriasis 14, Pustular

NIH Rare Diseases : 50 generalized pustular psoriasis is a severe inflammatory skin condition that can be life-threatening. affected people develop episodes of red and tender skin with widespread pustules throughout their body. this is generally accompanied by fever, chills, headache, rapid pulse rate, loss of appetite, nausea and muscle weakness. the condition generally resolves within days or weeks; however, relapses are common. some cases of generalized pustular psoriasis are caused by changes (mutations) in the il36rn gene and are inherited in an autosomal recessive manner. possible triggers for sporadic forms of the condition include withdrawal from corticosteroids, exposure to certain medications, and/or infection; however, in many cases, the underlying cause is unknown. generalized pustular psoriasis can be life threatening, so hospitalization and a specialist's care is usually required. affected areas are treated with topical (on the skin) compresses with emollients and/or steroid creams. certain medications may also be recommended to manage non-skin-related symptoms. last updated: 11/11/2015

MalaCards based summary : Psoriasis 14, Pustular, also known as generalized pustular psoriasis, is related to pustulosis palmaris et plantaris and pustulosis of palm and sole, and has symptoms including fever, cholangitis and furrowed tongue. An important gene associated with Psoriasis 14, Pustular is IL36RN (Interleukin 36 Receptor Antagonist). The drugs Etanercept and Adalimumab have been mentioned in the context of this disorder. Affiliated tissues include skin, tongue and testes.

UniProtKB/Swiss-Prot : 71 Psoriasis 14, pustular: A life-threatening disease defined by repeated flares of sudden onset consisting of diffuse erythematous skin eruption characterized by rapid coverage with pustules, high-grade fever, asthenia, marked leukocytosis, and elevated serum levels of C-reactive protein.

Genetics Home Reference : 25 Generalized pustular psoriasis (GPP) is a severe form of a skin disorder called psoriasis. GPP and other forms of psoriasis are caused by abnormal inflammation. Inflammation is a normal immune system response to injury and foreign invaders (such as bacteria). However, when inflammation is abnormal and uncontrolled, it can damage the body's tissues and organs. Individuals with GPP have repeated episodes in which large areas of skin become red and inflamed and develop small pus-filled blisters (pustules). The skin problems can be accompanied by fever, extreme tiredness (fatigue), muscle weakness, an increased number of white blood cells, and other signs of inflammation throughout the body (systemic inflammation). The inflammation problems subside and reappear often. Episodes can be triggered by infection, exposure to or withdrawal from certain medications, menstruation, or pregnancy, although the trigger is often unknown. GPP can be life-threatening if not treated.

OMIM : 54
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 (123260) (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 (612852) is caused by mutation in the IL1RN gene (147679). 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 (177900). (614204)

Wikipedia : 72 Generalized pustular psoriasis (GPP) is an extremely rare type of psoriasis that can present in a... more...

Related Diseases for Psoriasis 14, Pustular

Diseases in the Pustular Psoriasis family:

Psoriasis 14, Pustular Psoriasis 15, Pustular

Diseases related to Psoriasis 14, Pustular via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 31)
id Related Disease Score Top Affiliating Genes
1 pustulosis palmaris et plantaris 11.7
2 pustulosis of palm and sole 11.0
3 psoriasis susceptibility 1 10.9
4 psoriasis 10.2
5 pompholyx 10.0
6 pustular psoriasis 10.0
7 hyperostosis 9.9
8 folliculitis 9.8
9 rheumatoid arthritis 9.8
10 hyperthyroidism 9.8
11 neuronitis 9.8
12 acne 9.8
13 duodenitis 9.8
14 arthritis 9.8
15 glomerulonephritis 9.8
16 pemphigus 9.8
17 pemphigus vulgaris 9.8
18 tonsillitis 9.8
19 meningitis 9.8
20 streptococcal meningitis 9.8
21 eosinophilic pustular folliculitis 9.8
22 sapho syndrome 9.8
23 guttate psoriasis 9.8
24 relapsing polychondritis 9.8
25 synovitis 9.8
26 acrodermatitis 9.8
27 necrobiosis lipoidica 9.8
28 x-linked intellectual disability, cilliers type 9.6 AP1S3 IL36RN
29 pyridoxal 5'-phosphate-dependent epilepsy 9.5 AP1S3 IL36RN
30 pyridoxine deficiency 9.4 AP1S3 IL36RN
31 tinea nigra 9.2 AP1S3 IL36RN

Graphical network of the top 20 diseases related to Psoriasis 14, Pustular:



Diseases related to Psoriasis 14, Pustular

Symptoms & Phenotypes for Psoriasis 14, Pustular

Symptoms via clinical synopsis from OMIM:

54

Skin Nails & Hair- Skin Histology:
acanthosis
spongiform pustules
elongation of rete ridges
parakeratosis in stratum corneum

Abdomen- Biliary Tract:
cholangitis (in some patients)

Skin Nails & Hair- Skin:
pustular psoriasis, generalized

Metabolic Features:
fever, high-grade

Head And Neck- Mouth:
geographic tongue (in some patients)
scrotal tongue (in some patients)
lingual erythema migrans (in some patients)

Skeletal:
oligoarthritis (in some patients)
polyarthritis (rare)

Skin Nails & Hair- Nails:
nail dystrophy (in some patients)

Laboratory- Abnormalities:
increased serum c-reactive protein (crp, )


Clinical features from OMIM:

614204

Human phenotypes related to Psoriasis 14, Pustular:

32 (show all 9)
id Description HPO Frequency HPO Source Accession
1 fever 32 HP:0001945
2 cholangitis 32 occasional (7.5%) HP:0030151
3 furrowed tongue 32 occasional (7.5%) HP:0000221
4 nail dystrophy 32 occasional (7.5%) HP:0008404
5 erythema 32 HP:0010783
6 nail dysplasia 32 occasional (7.5%) HP:0002164
7 parakeratosis 32 HP:0001036
8 psoriasiform dermatitis 32 HP:0003765
9 pustule 32 HP:0200039

Drugs & Therapeutics for Psoriasis 14, Pustular

Drugs for Psoriasis 14, Pustular (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 25)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Etanercept Approved, Investigational Phase 3 185243-69-0
2
Adalimumab Approved Phase 3 331731-18-1 16219006
3
Menthol Approved Phase 3 2216-51-5 16666
4
Infliximab Approved Phase 3 170277-31-3
5
Benzocaine Approved Phase 3,Phase 2 1994-09-7, 94-09-7 2337
6
Certolizumab pegol Approved Phase 2, Phase 3 428863-50-7
7
Ustekinumab Approved, Investigational Phase 3 815610-63-0
8 tannic acid Approved, Nutraceutical Phase 3,Phase 2
9 Analgesics Phase 3
10 Analgesics, Non-Narcotic Phase 3
11 Anti-Inflammatory Agents Phase 3
12 Anti-Inflammatory Agents, Non-Steroidal Phase 3
13 Antirheumatic Agents Phase 3,Phase 2
14 Gastrointestinal Agents Phase 3
15 Immunosuppressive Agents Phase 3,Phase 2
16 Peripheral Nervous System Agents Phase 3
17 Antibodies Phase 3,Phase 2
18 Antibodies, Monoclonal Phase 3,Phase 2
19 Immunoglobulins Phase 3,Phase 2
20 Dermatologic Agents Phase 3,Phase 2
21 Pharmaceutical Solutions Phase 2, Phase 3
22
Alitretinoin Approved, Investigational Phase 2 5300-03-8 444795
23
Tretinoin Approved, Investigational, Nutraceutical Phase 2 302-79-4 5538
24 Keratolytic Agents Phase 2
25 Interleukin 1 Receptor Antagonist Protein Phase 2

Interventional clinical trials:

(show all 17)

id Name Status NCT ID Phase Drugs
1 A Placebo-Controlled Double-Blind Study on the Safety and Efficacy of Etanercept in Palmoplantar Pustulosis Completed NCT00353119 Phase 3 Placebo comparator;Etanercept
2 Study to Assess the Efficacy, Safety and Tolerability of Secukinumab in Japanese Subjects With Generalized Pustular Psoriasis (GPP) Completed NCT01952015 Phase 3
3 Study to Investigate Efficacy and Safety of Adalimumab in Japanese Subjects With Generalized Pustular Psoriasis (GPP) Completed NCT02533375 Phase 3 Adalimumab
4 Palmoplantar Pustular Psoriasis Efficacy and Safety wIth Secukinumab Completed NCT02008890 Phase 3 Placebo
5 Safety and Efficacy of Infliximab in Palmoplantar Psoriasis Completed NCT00629772 Phase 3 Placebo;Infliximab
6 An Efficacy and Safety of Guselkumab in Participants With Palmoplantar Pustulosis Recruiting NCT02641730 Phase 3 Guselkumab;Placebo
7 A Study to Test the Efficacy and Safety of Certolizumab Pegol in Japanese Subjects With Moderate to Severe Chronic Psoriasis Recruiting NCT03051217 Phase 2, Phase 3 Certolizumab Pegol
8 A Study to Assess Efficacy and Safety of Two Different Dose Regimens of Risankizumab Administered Subcutaneously in Japanese Subjects With Generalized Pustular Psoriasis or Erythrodermic Psoriasis Active, not recruiting NCT03022045 Phase 3 risankizumab
9 An Efficacy and Safety Study of CNTO1959 (Guselkumab) in the Treatment of Participants With Generalized Pustular Psoriasis or Erythrodermic Psoriasis Active, not recruiting NCT02343744 Phase 3 Guselkumab
10 Safety and Efficacy of Ustekinumab in Patients With Palmo-Plantar Pustular Psoriasis or With Palmo-Plantar Pustulosis Terminated NCT01091051 Phase 3 Ustekinumab;Placebo (Soduim Chloride)
11 A Study of the Efficacy, Safety and Tolerability of CNTO 1959, a Human Anti-IL 23 Monoclonal Antibody in Participants With Palmoplantar Pustulosis Completed NCT01845987 Phase 2 Placebo;CNTO 1959
12 Efficacy of Alitretinoin Treatment in Patients With Pustular Form of Psoriasis Completed NCT01245140 Phase 2 alitretinoin;Placebo
13 Initial Dosing of BI 655130 in Palmoplantar Pustulosis Patients Recruiting NCT03135548 Phase 2 BI 655130 (low dose);Placebo;BI 655130 (high dose)
14 Anakinra for Inflammatory Pustular Skin Diseases Recruiting NCT01794117 Phase 2 Anakinra
15 Efficacy Study of TEPSO® Socks in Improving Palmoplantar Pustulosis Terminated NCT01197989 Phase 2
16 BI655130 Single Dose in Generalized Pustular Psoriasis Recruiting NCT02978690 Phase 1 BI655130
17 Immune Signature of Palmoplantar Pustulosis Completed NCT01780857

Search NIH Clinical Center for Psoriasis 14, Pustular

Genetic Tests for Psoriasis 14, Pustular

Genetic tests related to Psoriasis 14, Pustular:

id Genetic test Affiliating Genes
1 Pustular Psoriasis, Generalized 29
2 Generalized Pustular Psoriasis 24 IL36RN

Anatomical Context for Psoriasis 14, Pustular

MalaCards organs/tissues related to Psoriasis 14, Pustular:

39
Skin, Tongue, Testes, Bone

Publications for Psoriasis 14, Pustular

Variations for Psoriasis 14, Pustular

UniProtKB/Swiss-Prot genetic disease variations for Psoriasis 14, Pustular:

71
id Symbol AA change Variation ID SNP ID
1 IL36RN p.Leu27Pro VAR_066646 rs387906914
2 IL36RN p.Arg48Trp VAR_066647 rs151325121
3 IL36RN p.Ser113Leu VAR_066648 rs144478519
4 IL36RN p.Thr123Arg VAR_068972 rs397514629

ClinVar genetic disease variations for Psoriasis 14, Pustular:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 IL36RN NM_173170.1(IL36RN): c.80T> C (p.Leu27Pro) single nucleotide variant Pathogenic rs387906914 GRCh37 Chromosome 2, 113818479: 113818479
2 IL36RN NM_173170.1(IL36RN): c.338C> T (p.Ser113Leu) single nucleotide variant Pathogenic rs144478519 GRCh37 Chromosome 2, 113820124: 113820124
3 IL36RN NM_173170.1(IL36RN): c.142C> T (p.Arg48Trp) single nucleotide variant Pathogenic rs151325121 GRCh37 Chromosome 2, 113819727: 113819727
4 IL36RN NM_012275.2(IL36RN): c.115+6T> C single nucleotide variant Pathogenic rs148755083 GRCh38 Chromosome 2, 113060943: 113060943
5 IL36RN NM_012275.2(IL36RN): c.368C> G (p.Thr123Arg) single nucleotide variant Pathogenic rs397514629 GRCh37 Chromosome 2, 113820154: 113820154
6 IL36RN NM_012275.2(IL36RN): c.104A> G (p.Lys35Arg) single nucleotide variant Pathogenic rs187015338 GRCh38 Chromosome 2, 113060926: 113060926
7 IL36RN NM_012275.2(IL36RN): c.304C> T (p.Arg102Trp) single nucleotide variant Pathogenic rs199932303 GRCh38 Chromosome 2, 113062513: 113062513

Expression for Psoriasis 14, Pustular

Search GEO for disease gene expression data for Psoriasis 14, Pustular.

Pathways for Psoriasis 14, Pustular

GO Terms for Psoriasis 14, Pustular

Sources for Psoriasis 14, Pustular

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