Infantile-onset periodic fever-panniculitis-dermatosis syndrome

Orpha code: 500062OMIM code: 617099

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.

Disease data
Classification

Disease

Synonyms
ORAS
Otulipenia
Niedobór OTULIN
Zespół autoinflamatoryjny związany z OTULIN
OTULIN deficiency
OTULIN-related autoinflammatory syndrome
Otulipenia
ORPHA code
500062
OMIM code
617099
ICD10 code
D89.8
ICD11 code
-

No additional description.

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