ORPHA:247353

Generalized pustular psoriasis

Synonyms: GPP

Type: Disease
Group: Disorder
Inheritance: Autosomal recessive, Not applicable
Age of onset: Adult
Status: active

Generalized pustular psoriasis is a severe inflammatory skin disease that can be life-threatening and that is characterized by recurrent episodes of high fever, fatigue, episodic erythematous cutaneous eruptions with sterile cutaneous pustules formation on various parts of the body, and neutrophil leukocytosis.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Generalized pustular psoriasis	GPP
fr	Psoriasis pustuleux généralisé	GPP · PPG
de	Generalisierte pustulöse Psoriasis	= en
es	Psoriasis pustulosa generalizada	= en
it	Psoriasi pustolosa generalizzata	= en
nl	Gegeneraliseerde pustuleuze psoriasis	= en
pt	Psoríase pustular generalizada
pl	Uogólniona łuszczyca krostkowa	= en
cs	Generalizovaná pustulární psoriáza	= en
uk	Генералізований пустульозний псоріаз	= en
zh	全身性疱疹性银屑病	= en
tr	Jeneralize püstüler psoriazis	= en

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	614204	NTBT		validated
OMIM	616106	BTNT		validated
ICD-10	L40.1	E	specific	validated
ICD-11	EA90.40	E	specific	validated
MONDO	0100491	E		validated
MONDO	100491	E		validated
UMLS	C0343055	E		validated
GARD	12819	E		validated
MedDRA	10090621	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Classification

Preferential parent (Orphanet linearisation):

ORPHA:89826Rare skin disease

Parents in the classifications (2):

ORPHA:79359Other epidermal disorder
rare skin diseases
ORPHA:79360Other genetic epidermal disease
rare genetic diseases

No children.

Genes

2 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
IL36RN	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:15561	ENSG00000136695	605507	2q14.1	interleukin 36 receptor antagonist	21839423[PMID]
AP1S3	Disease-causing germline mutation(s) in	Assessed	HGNC:18971	ENSG00000152056	615781	2q36.1	adaptor related protein complex 1 subunit sigma 3	24791904[PMID]

Prevalence and incidence

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Point prevalence	1-9 / 1 000 000	—	Europe	Class only	Not yet validated	ORPHANET
Point prevalence	1-9 / 1 000 000	0.18 / 100 000	France	Value and class	Validated	17229609[PMID]

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

HPO phenotypes

27 annotations · validated 2023-04-11

HPO	Term (as annotated by Orphanet)	Diagnostic
Obligate (100%)
HP:0002829	Arthralgia
HP:0003565	Elevated erythrocyte sedimentation rate
HP:0025474	Erythematous plaque
HP:0200039	Pustule
Very frequent (99-80%)
HP:0001597	Abnormal nail morphology
HP:0001019	Erythroderma
HP:0012531	Pain
Frequent (79-30%)
HP:0001369	Arthritis
HP:0100825	Cheilitis
HP:0011227	Elevated circulating C-reactive protein concentration
HP:0012378	Fatigue
HP:0001945	Fever
HP:0025252	Geographic tongue
HP:0001974	Increased total leukocyte count
HP:0025502	Overweight
Occasional (29-5%)
HP:0002910	Elevated circulating hepatic transaminase concentration
HP:0003073	Hypoalbuminemia
HP:0002901	Hypocalcemia
HP:0002902	Hyponatremia
HP:0001888	Lymphopenia
HP:0001513	Obesity
HP:0100847	Palmoplantar pustulosis
HP:0010741	Pedal edema
HP:0000083	Renal insufficiency
Very rare (<4-1%)
HP:0001635	Congestive heart failure
HP:0100806	Sepsis
HP:0000554	Uveitis

Run the differential on the 7 obligate / very frequent terms

Annotation source: 23967807[PMID]_33497511[PMID]_28063630[PMID]

Sources for this card

Orphanet page: orpha.net/en/disease/detail/247353
This record as JSON: /data/d/247353.json