MCID: PSR021
MIFTS: 44

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 53 49 71
Generalized Pustular Psoriasis 53 49 24 55 71 69
Gpp 53 49 24 55 71
Ditra 53 24 55 71
Acrodermatitis Continua of Hallopeau 53 55 71
Interleukin 36 Receptor Antagonist Deficiency 53 71
Palmoplantar Pustulosis 53 71
Psors14 53 71
Psorp 53 71
Interleukin 36 Receptor Antagonist Deficiency; Ditra 53
Deficiency of the Interleukin-36 Receptor Antagonist 24
Generalized Pustular Psoriasis of Von Zumbusch 24
Acute Generalised Pustular Psoriasis 24
Acute Generalized Pustular Psoriasis 69
Generalized Pustular Psoriasis; Gpp 53
Interleukin 36 Receptor Antagonist 13
Deficiency of Il-36r Antagonist 55
Pustular Psoriasis, Generalized 28
Psoriasis, Generalized Pustular 13
Pustulosis of Palms and Soles 69
Von Zumbusch Psoriasis 24
Deficiency of Il-36ra 55

Characteristics:

Orphanet epidemiological data:

55
acrodermatitis continua of hallopeau
Inheritance: Autosomal recessive;
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:

53
Inheritance:
autosomal recessive

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


HPO:

31
psoriasis 14, pustular:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Psoriasis 14, Pustular

NIH Rare Diseases : 49 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 pustular psoriasis, and has symptoms including fever, parakeratosis and nail dystrophy. 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 bone.

OMIM : 53 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)

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 : 24 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.

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:

# Related Disease Score Top Affiliating Genes
1 pustulosis palmaris et plantaris 32.0 AP1S3 IL36RN
2 pustular psoriasis 29.5 AP1S3 IL36RN
3 acrodermatitis 29.2 AP1S3 IL36RN
4 psoriasis 29.1 AP1S3 IL36RN
5 psoriasis 1 11.4
6 pustulosis of palm and sole 10.0
7 aging 9.9

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:

53
Skin Nails Hair Skin Histology:
acanthosis
elongation of rete ridges
spongiform pustules
parakeratosis in stratum corneum

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

Abdomen Biliary Tract:
cholangitis (in some patients)

Skin Nails Hair Skin:
pustular psoriasis, generalized

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

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)

Metabolic Features:
fever, high-grade


Clinical features from OMIM:

614204

Human phenotypes related to Psoriasis 14, Pustular:

31 (show all 12)
# Description HPO Frequency HPO Source Accession
1 fever 31 HP:0001945
2 parakeratosis 31 HP:0001036
3 nail dystrophy 31 occasional (7.5%) HP:0008404
4 erythema 31 HP:0010783
5 nail dysplasia 31 occasional (7.5%) HP:0002164
6 furrowed tongue 31 occasional (7.5%) HP:0000221
7 pustule 31 HP:0200039
8 cholangitis 31 occasional (7.5%) HP:0030151
9 geographic tongue 31 occasional (7.5%) HP:0025252
10 psoriasiform dermatitis 31 HP:0003765
11 epidermal acanthosis 31 HP:0025092
12 oligoarthritis 31 occasional (7.5%) HP:0040313

Drugs & Therapeutics for Psoriasis 14, Pustular

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

(show all 25)
# 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, Investigational 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)

# 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 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
7 An Efficacy and Safety of Guselkumab in Participants With Palmoplantar Pustulosis Active, not recruiting NCT02641730 Phase 3 Guselkumab;Placebo
8 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
9 A Study to Test the Efficacy and Safety of Certolizumab Pegol in Japanese Subjects With Moderate to Severe Chronic Psoriasis Active, not recruiting NCT03051217 Phase 2, Phase 3 Certolizumab Pegol
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 Completed 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:

# Genetic test Affiliating Genes
1 Pustular Psoriasis, Generalized 28 IL36RN

Anatomical Context for Psoriasis 14, Pustular

MalaCards organs/tissues related to Psoriasis 14, Pustular:

38
Skin, Tongue, Bone, Testes

Publications for Psoriasis 14, Pustular

Articles related to Psoriasis 14, Pustular:

(show top 50) (show all 275)
# Title Authors Year
1
Genetic background and therapeutic response in generalized pustular psoriasis patients treated with granulocyte and monocyte adsorption apheresis. ( 29380726 )
2018
2
Generalized pustular psoriasis triggered by Zika virus infection. ( 29027743 )
2018
3
Generalized pustular psoriasis: A possible association with severe hypocalcaemia due to primary hypoparathyroidism. ( 28106254 )
2017
4
Clinical features of von Zumbusch type of generalized pustular psoriasis in children: a retrospective study of 26 patients in southwestern China. ( 29186241 )
2017
5
Recalcitrant infantile generalized pustular psoriasis successfully treated with acitretin and narrowband ultraviolet B. ( 28106270 )
2017
6
Generalized Pustular Psoriasis. ( 28629688 )
2017
7
Psoriasis verrucosa complicated by generalized pustular psoriasis. ( 29235672 )
2017
8
Interleukin-17 blockade in generalized pustular psoriasis - new hope for severely ill patients. ( 28300318 )
2017
9
Generalized pustular psoriasis treated with apremilast in a patient with multiple medical comorbidities. ( 29034298 )
2017
10
Autosomal dominant familial generalized pustular psoriasis caused by a CARD14 mutation. ( 28295164 )
2017
11
Juvenile generalized pustular psoriasis is a chronic recalcitrant disease: an analysis of 27 patients seen in a tertiary hospital in Johor, Malaysia. ( 28194751 )
2017
12
A newly revealed IL36RN mutation in sibling cases complements our IL36RN mutation statistics for generalized pustular psoriasis. ( 27802907 )
2017
13
Acquired hemophilia A following generalized pustular psoriasis of pregnancy. ( 28771773 )
2017
14
Generalized pustular psoriasis in a 92-year-old man with a homozygous nonsense mutation in IL36RN. ( 29215143 )
2017
15
Unopposed IL-36 activity promotes clonal CD4<sup>+</sup>T-cell responses with IL-17A production in generalized pustular psoriasis. ( 29288651 )
2017
16
Generalized Pustular Psoriasis With IL-36 Receptor Antagonist Mutation Successfully Treated With Granulocyte and Monocyte Adsorption Apheresis Accompanied by Reduced Serum IL-6 Level. ( 28913961 )
2017
17
Successful Secukinumab treatment of generalized pustular psoriasis and erythrodermic psoriasis. ( 28319281 )
2017
18
Case of generalized pustular psoriasis presenting with both pleural effusion and pericardial effusion collection. ( 28636215 )
2017
19
Generalized pustular psoriasis associated with Turner syndrome and dilated cardiomyopathy. ( 26870904 )
2016
20
Efficacy and safety of brodalumab in patients with generalized pustular psoriasis and psoriatic erythroderma: results from a 52-week, open-label study. ( 27106510 )
2016
21
Efficacy and safety of ixekizumab treatment for Japanese patients with moderate to severe plaque psoriasis, erythrodermic psoriasis and generalized pustular psoriasis: Results from a 52-week, open-label, phase 3 study (UNCOVER-J). ( 27726163 )
2016
22
Imiquimod Treatment Causes Systemic Disease in Mice Resembling Generalized Pustular Psoriasis in an IL-1 and IL-36 Dependent Manner. ( 28057979 )
2016
23
IL-1 and IL-36 are dominant cytokines in generalized pustular psoriasis. ( 28043870 )
2016
24
Therapeutic Efficacy of Interleukin 12/Interleukin 23 Blockade in Generalized Pustular Psoriasis Regardless of IL36RN Mutation Status. ( 27096382 )
2016
25
Immunohistochemical Comparison of IL-36 and the IL-23/Th17 Axis of Generalized Pustular Psoriasis and Acute Generalized Exanthematous Pustulosis. ( 27489427 )
2016
26
Generalized pustular psoriasis induced by systemic steroid dose reduction. ( 27828647 )
2016
27
Certolizumab pegol, a pegylated anti-TNF-I+ antagonist, caused de novo-onset palmoplantar pustulosis followed by generalized pustular psoriasis in a patient with rheumatoid arthritis. ( 27599405 )
2016
28
Generalized pustular psoriasis treated with ustekinumab. ( 27333948 )
2016
29
Efficacy and safety of secukinumab in patients with generalized pustular psoriasis: A 52-week analysis from phase III open-label multicenter Japanese study. ( 26919410 )
2016
30
Biologics and Pediatric Generalized Pustular Psoriasis: An Emerging Therapeutic Trend. ( 27462478 )
2016
31
Adalimumab administration after infliximab therapy is a successful treatment strategy for generalized pustular psoriasis. ( 27743397 )
2016
32
A Case of Acrodermatitis Continua Accompanying with Osteolysis and Atrophy of the Distal Phalanx That Evoluted into Generalized Pustular Psoriasis. ( 27904292 )
2016
33
Secukinumab in the treatment of generalized pustular psoriasis - a case report. ( 27231055 )
2016
34
Generalized Pustular Psoriasis Associated with Shock. ( 26976288 )
2016
35
Generalized Pustular Psoriasis (Von Zumbusch Type) Following Renal Transplant: A Case Report. ( 27915962 )
2016
36
Two case reports of generalized pustular psoriasis of pregnancy: Different outcomes. ( 27512494 )
2016
37
Extemporaneous Compounding of Oral Acitretin Suspension for Pediatric Patient with Generalized Pustular Psoriasis. ( 27125051 )
2016
38
Juvenile generalized pustular psoriasis with IL36RN mutation treated with short-term infliximab. ( 26627198 )
2016
39
Case of generalized pustular psoriasis exacerbated during pregnancy, successfully treated with infliximab. ( 27130289 )
2016
40
IL36RN mutations define a severe autoinflammatory phenotype of generalized pustular psoriasis. ( 25458002 )
2015
41
A Case of Acute Generalized Pustular Psoriasis of von Zumbusch Triggered by Hypocalcemia. ( 26955330 )
2015
42
Elderly-Onset Generalized Pustular Psoriasis without a Previous History of Psoriasis Vulgaris. ( 26351429 )
2015
43
Generalized pustular psoriasis with a novel mutation of interleukin-36 receptor antagonist, responding to methotrexate. ( 27051681 )
2015
44
Identification of Two Loci Associated with Generalized Pustular Psoriasis. ( 25801791 )
2015
45
Biomarkers for generalized pustular psoriasis and related diseases. ( 26558308 )
2015
46
Clinical features and course of generalized pustular psoriasis in Korea. ( 25819215 )
2015
47
Granulocyte and Monocyte Adsorption Apheresis for Generalized Pustular Psoriasis: Therapeutic Outcomes in Three Refractory Patients. ( 26386221 )
2015
48
A Case of Old Age-Onset Generalized Pustular Psoriasis with a Deficiency of IL-36RN (DITRA) Treated by Granulocyte and Monocyte Apheresis. ( 25848350 )
2015
49
Infant with generalized pustular psoriasis who responded to cyclosporin A therapy. ( 26046589 )
2015
50
Generalized pustular psoriasis following allogeneic stem cell transplantation. ( 25472781 )
2015

Variations for Psoriasis 14, Pustular

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

71
# 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
# 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.142C> T (p.Arg48Trp) single nucleotide variant Pathogenic rs151325121 GRCh37 Chromosome 2, 113819727: 113819727
3 IL36RN NM_012275.2(IL36RN): c.115+6T> C single nucleotide variant Pathogenic rs148755083 GRCh38 Chromosome 2, 113060943: 113060943
4 IL36RN NM_012275.2(IL36RN): c.368C> G (p.Thr123Arg) single nucleotide variant Pathogenic rs397514629 GRCh37 Chromosome 2, 113820154: 113820154
5 IL36RN NM_012275.2(IL36RN): c.104A> G (p.Lys35Arg) single nucleotide variant Pathogenic rs187015338 GRCh38 Chromosome 2, 113060926: 113060926
6 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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