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Infantile-onset periodic fever-panniculitis-dermatosis syndrome
Disease definition
A rare genetic autoinflammatory syndrome characterized by early-onset of repeated episodes of fever, nodular neutrophil-rich panniculitis, arthralgia, and lipodystrophy. Additional reported features include diarrhea, failure to thrive, lymphadenopathy, and vasculitis. Laboratory examination may reveal elevated serum C-reactive protein and leukocytosis with neutrophilia in the absence of infection.
ORPHA:500062
Classification level: Disorder- Synonym(s):
- ORAS
- OTULIN deficiency
- OTULIN-related autoinflammatory syndrome
- Otulipenia
- Prevalence: <1 / 1 000 000
- Inheritance: Autosomal recessive
- Age of onset: Neonatal, Infancy
- ICD-10: D89.8
- OMIM: 617099
- UMLS: -
- MeSH: -
- GARD: -
- MedDRA: -
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