Sterile multifocal osteomyelitis with periostitis and pustulosis

General Information (adopted from Orphanet):

Synonyms, Signs: INTERLEUKIN 1 RECEPTOR ANTAGONIST DEFICIENCY
OMPP
DIRA
Autoinflammatory disease due to interleukin-1 receptor antagonist deficiency
Interleukin-1 receptor antagonist deficiency
Number of Symptoms 28
OrphanetNr: 210115
OMIM Id: 612852
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 10 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Autoinflammatory syndrome with immune deficiency
 -Rare genetic disease
 -Rare immune disease
Autoinflammatory syndrome with skin involvement
 -Rare skin disease
Pyogenic autoinflammatory syndrome
 -Rare systemic or rheumatologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0010280) Stomatitis 8 / 7739
2
 (HPO:0004602) Cervical C2/C3 vertebral fusion 3 / 7739
3
 (HPO:0001386) Joint swelling 7 / 7739
4
 (HPO:0002829) Arthralgia 79 / 7739
5
 (HPO:0002754) Osteomyelitis 37 / 7739
6
 (HPO:0002949) Fused cervical vertebrae rare [HPO:skoehler] 13 / 7739
7
 (HPO:0001744) Splenomegaly 337 / 7739
8
 (HPO:0002240) Hepatomegaly 467 / 7739
9
 (HPO:0000962) Hyperkeratosis 216 / 7739
10
 (HPO:0000956) Acanthosis nigricans 54 / 7739
11
 (HPO:0006530) Interstitial pulmonary disease rare [HPO:skoehler] 26 / 7739
12
 (HPO:0002098) Respiratory distress rare [HPO:skoehler] 75 / 7739
13
 (OMIM) Cerebral vasculitis or vasculopathy (rare) 1 / 7739
14
 (OMIM) Marked elevation of serum C-reactive protein level (CRP 123260) 1 / 7739
15
 (OMIM) Periosteal elevation 1 / 7739
16
 (OMIM) Osteolysis, multifocal sterile 1 / 7739
17
 (OMIM) Interphalangeal joint swelling 1 / 7739
18
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
19
 (OMIM) Mouth ulcers 1 / 7739
20
 (OMIM) Pustulosis or pustular psoriasis, generalized 1 / 7739
21
 (OMIM) Neutrophil infiltration of dermis and epidermis 1 / 7739
22
 (OMIM) Pustule formation along hair follicles 1 / 7739
23
 (OMIM) Widening of anterior rib ends 1 / 7739
24
 (OMIM) Periosteal cloaking 3 / 7739
25
 (OMIM) Marked elevation of erythrocyte sedimentation rate 1 / 7739
26
 (OMIM) Psoriatic nail changes (in some patients) 1 / 7739
27
 (OMIM) Fetal distress 4 / 7739
28
 (OMIM) Onychomedesis - shedding of the nail (in some patients) 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Leung and Lee (1985) reported a Hispanic female infant with the clinical, radiologic, and histologic presentation of infantile cortical hyperostosis (see Caffey disease, 114000) who also developed cutaneous pustulosis. The bone lesions developed at 3 weeks of age, ...
Molecular genetics OMIM In patients with neonatal onset of sterile multifocal osteomyelitis, periostitis, and pustulosis, Aksentijevich et al. (2009) identified homozygosity for a 2-bp deletion (147679.0004) and nonsense mutations (147679.0002 and 147679.0003) in the IL1RN gene. Another patient whose parents originated ...
Population genetics OMIM Aksentijevich et al. (2009) estimated the allele frequency of the IL1RN 2-bp deletion to be 0.2% in Newfoundland. In a geographically matched population from the northwestern part of Puerto Rico, the 175-kb deletion had an allele frequency of ...