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Generalized pustular psoriasis

MedGen UID:
473074
Concept ID:
C0343055
Disease or Syndrome
Synonym: Pustular psoriasis, generalized
SNOMED CT: Generalized pustular psoriasis (238612002); Generalized pustular psoriasis of von Zumbusch (238612002); Acute generalized pustular psoriasis (238612002)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Monarch Initiative: MONDO:0100491
Orphanet: ORPHA247353

Definition

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). [from OMIM]

Additional description

From MedlinePlus Genetics
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.

While many affected individuals have features only of GPP (called GPP alone), some develop features of another skin condition called psoriasis vulgaris (PV), either before or after GPP appears. PV, the most common form of psoriasis, is characterized by red, scaly patches of skin (plaques) on parts of the body.  https://medlineplus.gov/genetics/condition/generalized-pustular-psoriasis

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGeneralized pustular psoriasis
Follow this link to review classifications for Generalized pustular psoriasis in Orphanet.

Professional guidelines

PubMed

Kodali N, Blanchard I, Kunamneni S, Lebwohl MG
Exp Dermatol 2023 Aug;32(8):1204-1218. Epub 2023 Mar 1 doi: 10.1111/exd.14765. PMID: 36779681
Hoegler KM, John AM, Handler MZ, Schwartz RA
J Eur Acad Dermatol Venereol 2018 Oct;32(10):1645-1651. Epub 2018 Apr 11 doi: 10.1111/jdv.14949. PMID: 29573491
Navarini AA, Burden AD, Capon F, Mrowietz U, Puig L, Köks S, Kingo K, Smith C, Barker JN; ERASPEN Network
J Eur Acad Dermatol Venereol 2017 Nov;31(11):1792-1799. Epub 2017 Aug 29 doi: 10.1111/jdv.14386. PMID: 28585342

Recent clinical studies

Etiology

van de Kerkhof PC
J Invest Dermatol 2022 Jul;142(7):1778-1785. Epub 2022 Mar 3 doi: 10.1016/j.jid.2022.01.014. PMID: 35249726
Marrakchi S, Puig L
Am J Clin Dermatol 2022 Jan;23(Suppl 1):13-19. Epub 2022 Jan 21 doi: 10.1007/s40257-021-00655-y. PMID: 35061228Free PMC Article
Bachelez H, Choon SE, Marrakchi S, Burden AD, Tsai TF, Morita A, Navarini AA, Zheng M, Xu J, Turki H, Anadkat MJ, Rajeswari S, Hua H, Vulcu SD, Hall D, Tetzlaff K, Thoma C, Lebwohl MG; Effisayil 1 Trial Investigators
N Engl J Med 2021 Dec 23;385(26):2431-2440. doi: 10.1056/NEJMoa2111563. PMID: 34936739
Twelves S, Mostafa A, Dand N, Burri E, Farkas K, Wilson R, Cooper HL, Irvine AD, Oon HH, Kingo K, Köks S, Mrowietz U, Puig L, Reynolds N, Tan ES, Tanew A, Torz K, Trattner H, Valentine M, Wahie S, Warren RB, Wright A, Bata-Csörgő Z, Szell M, Griffiths CEM, Burden AD, Choon SE, Smith CH, Barker JN, Navarini AA, Capon F
J Allergy Clin Immunol 2019 Mar;143(3):1021-1026. Epub 2018 Jul 21 doi: 10.1016/j.jaci.2018.06.038. PMID: 30036598Free PMC Article
Navarini AA, Burden AD, Capon F, Mrowietz U, Puig L, Köks S, Kingo K, Smith C, Barker JN; ERASPEN Network
J Eur Acad Dermatol Venereol 2017 Nov;31(11):1792-1799. Epub 2017 Aug 29 doi: 10.1111/jdv.14386. PMID: 28585342

Diagnosis

Kodali N, Blanchard I, Kunamneni S, Lebwohl MG
Exp Dermatol 2023 Aug;32(8):1204-1218. Epub 2023 Mar 1 doi: 10.1111/exd.14765. PMID: 36779681
Prinz JC, Choon SE, Griffiths CEM, Merola JF, Morita A, Ashcroft DM, Viguier M
J Eur Acad Dermatol Venereol 2023 Feb;37(2):256-273. Epub 2022 Dec 3 doi: 10.1111/jdv.18720. PMID: 36331364
Bachelez H
Acta Derm Venereol 2020 Jan 30;100(3):adv00034. doi: 10.2340/00015555-3388. PMID: 31971600Free PMC Article
Hoegler KM, John AM, Handler MZ, Schwartz RA
J Eur Acad Dermatol Venereol 2018 Oct;32(10):1645-1651. Epub 2018 Apr 11 doi: 10.1111/jdv.14949. PMID: 29573491
Navarini AA, Burden AD, Capon F, Mrowietz U, Puig L, Köks S, Kingo K, Smith C, Barker JN; ERASPEN Network
J Eur Acad Dermatol Venereol 2017 Nov;31(11):1792-1799. Epub 2017 Aug 29 doi: 10.1111/jdv.14386. PMID: 28585342

Therapy

Kodali N, Blanchard I, Kunamneni S, Lebwohl MG
Exp Dermatol 2023 Aug;32(8):1204-1218. Epub 2023 Mar 1 doi: 10.1111/exd.14765. PMID: 36779681
van de Kerkhof PC
J Invest Dermatol 2022 Jul;142(7):1778-1785. Epub 2022 Mar 3 doi: 10.1016/j.jid.2022.01.014. PMID: 35249726
Krueger J, Puig L, Thaçi D
Am J Clin Dermatol 2022 Jan;23(Suppl 1):51-64. Epub 2022 Jan 21 doi: 10.1007/s40257-021-00658-9. PMID: 35061230Free PMC Article
Bachelez H, Choon SE, Marrakchi S, Burden AD, Tsai TF, Morita A, Navarini AA, Zheng M, Xu J, Turki H, Anadkat MJ, Rajeswari S, Hua H, Vulcu SD, Hall D, Tetzlaff K, Thoma C, Lebwohl MG; Effisayil 1 Trial Investigators
N Engl J Med 2021 Dec 23;385(26):2431-2440. doi: 10.1056/NEJMoa2111563. PMID: 34936739
Hoegler KM, John AM, Handler MZ, Schwartz RA
J Eur Acad Dermatol Venereol 2018 Oct;32(10):1645-1651. Epub 2018 Apr 11 doi: 10.1111/jdv.14949. PMID: 29573491

Prognosis

Puig L, Choon SE, Gottlieb AB, Marrakchi S, Prinz JC, Romiti R, Tada Y, von Bredow D, Gooderham M
J Eur Acad Dermatol Venereol 2023 Apr;37(4):737-752. Epub 2023 Feb 4 doi: 10.1111/jdv.18851. PMID: 36606566
Prinz JC, Choon SE, Griffiths CEM, Merola JF, Morita A, Ashcroft DM, Viguier M
J Eur Acad Dermatol Venereol 2023 Feb;37(2):256-273. Epub 2022 Dec 3 doi: 10.1111/jdv.18720. PMID: 36331364
Choon SE, Navarini AA, Pinter A
Am J Clin Dermatol 2022 Jan;23(Suppl 1):21-29. Epub 2022 Jan 21 doi: 10.1007/s40257-021-00654-z. PMID: 35061227Free PMC Article
Kosumi H, Ito T, Fujita Y, Izumi K, Maya Y, Yanagi T, Natsuga K, Ujiie H, Shinkuma S, Nomura T, Sadanobu N, Shimizu H
J Pediatr 2017 Sep;188:305-305.e1. Epub 2017 Jun 16 doi: 10.1016/j.jpeds.2017.05.058. PMID: 28629688
Farber EM, Nall L
Cutis 1993 Jan;51(1):29-32. PMID: 8419106

Clinical prediction guides

Martin A, Ibraheim MK, Gupta R, Wu JJ
Dermatol Clin 2025 Jan;43(1):1-9. Epub 2024 Sep 10 doi: 10.1016/j.det.2024.08.001. PMID: 39542556
Elewski BE, Lebwohl MG, Anadkat MJ, Barker J, Ghoreschi K, Imafuku S, Mrowietz U, Li L, Quaresma M, Thoma C, Bachelez H
J Am Acad Dermatol 2023 Jul;89(1):36-44. Epub 2023 Mar 2 doi: 10.1016/j.jaad.2023.02.040. PMID: 36870370
Bachelez H, Choon SE, Marrakchi S, Burden AD, Tsai TF, Morita A, Navarini AA, Zheng M, Xu J, Turki H, Anadkat MJ, Rajeswari S, Hua H, Vulcu SD, Hall D, Tetzlaff K, Thoma C, Lebwohl MG; Effisayil 1 Trial Investigators
N Engl J Med 2021 Dec 23;385(26):2431-2440. doi: 10.1056/NEJMoa2111563. PMID: 34936739
Gooderham MJ, Van Voorhees AS, Lebwohl MG
Expert Rev Clin Immunol 2019 Sep;15(9):907-919. Epub 2019 Sep 5 doi: 10.1080/1744666X.2019.1648209. PMID: 31486687
Dogra S, Kaur I
Indian J Dermatol Venereol Leprol 2010 Jul-Aug;76(4):357-65. doi: 10.4103/0378-6323.66580. PMID: 20657115

Recent systematic reviews

Chen BL, Liu QW, Dong XW, Bai YP
Front Immunol 2024;15:1462158. Epub 2024 Oct 14 doi: 10.3389/fimmu.2024.1462158. PMID: 39469713Free PMC Article
Puig L, Choon SE, Gottlieb AB, Marrakchi S, Prinz JC, Romiti R, Tada Y, von Bredow D, Gooderham M
J Eur Acad Dermatol Venereol 2023 Apr;37(4):737-752. Epub 2023 Feb 4 doi: 10.1111/jdv.18851. PMID: 36606566
Kearns DG, Chat VS, Zang PD, Han G, Wu JJ
J Dermatolog Treat 2021 Aug;32(5):492-494. Epub 2020 Jan 15 doi: 10.1080/09546634.2019.1682502. PMID: 31697211
Zhou LL, Georgakopoulos JR, Ighani A, Yeung J
J Cutan Med Surg 2018 Nov/Dec;22(6):591-601. Epub 2018 Apr 30 doi: 10.1177/1203475418773358. PMID: 29707979
Posso-De Los Rios CJ, Pope E, Lara-Corrales I
Pediatr Dermatol 2014 Jul-Aug;31(4):430-9. Epub 2014 May 29 doi: 10.1111/pde.12351. PMID: 24890463

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