Generalized pustular psoriasis

General Information (adopted from Orphanet):

Synonyms, Signs: INTERLEUKIN 36 RECEPTOR ANTAGONIST DEFICIENCY
GPP
PSORP
DITRA
Deficiency of the IL-36R antagonist
Deficiency of the IL-36Ra
Number of Symptoms 22
OrphanetNr: 247353
OMIM Id: 614204
ICD-10: L40.1
UMLs: C0343055
MeSH:
MedDRA:
Snomed: 238612002

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
Not applicable
[Orphanet]
Age of onset: Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Other epidermis disorder
 -Rare skin disease
Other genetic epidermal disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000221) Furrowed tongue rare [HPO:skoehler] 24 / 7739
2
 (HPO:0003765) Psoriasis 17 / 7739
3
 (HPO:0000956) Acanthosis nigricans 54 / 7739
4
 (HPO:0200039) Pustule 20 / 7739
5
 (HPO:0002164) Nail dysplasia rare [HPO:skoehler] 82 / 7739
6
 (HPO:0001036) Parakeratosis 12 / 7739
7
 (HPO:0010783) Erythema 138 / 7739
8
 (HPO:0008404) Nail dystrophy rare [HPO:skoehler] 89 / 7739
9
 (HPO:0001945) Fever 218 / 7739
10
 (OMIM) Spongiform pustules 1 / 7739
11
 (MedDRA:10008604) Cholangitis 6 / 7739
12
 (OMIM) Lingual erythema migrans (in some patients) 1 / 7739
13
 (OMIM) Increased serum C-reactive protein (CRP, 123260) 2 / 7739
14
 (OMIM) Pustular psoriasis, generalized 1 / 7739
15
 (OMIM) Elongation of rete ridges 1 / 7739
16
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
17
 (OMIM) Fever, high-grade 1 / 7739
18
 (OMIM) Oligoarthritis (in some patients) 1 / 7739
19
 (MedDRA:10043957) Tongue geographic 2 / 7739
20
 (HPO:0030151) Cholangitis rare [HPO:skoehler] 10 / 7739
21
 (OMIM) Parakeratosis in stratum corneum 1 / 7739
22
 (MedDRA:10036030) Polyarthritis 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Generalized pustular psoriasis 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).

...
Clinical Description OMIM Marrakchi et al. (2011) studied 9 families from southern Tunisia segregating autosomal recessive generalized pustular psoriasis. All 16 affected individuals fulfilled the clinical and biologic criteria for generalized pustular psoriasis, defined by repeated flares of sudden onset consisting ...
Molecular genetics OMIM In 9 Tunisian families segregating autosomal recessive generalized pustular psoriasis mapping to chromosome 2q13-q14, Marrakchi et al. (2011) analyzed 9 candidate genes and identified homozygosity for a missense mutation in the IL36RN gene (L27P; 605507.0001) in all affected ...
Population genetics OMIM Based on the size of the homozygous region on chromosome 2q13-q14 in affected individuals from each of 9 Tunisian families segregating autosomal recessive generalized pustular psoriasis, Marrakchi et al. (2011) estimated that the most recent common ancestor of ...