Infantile-onset periodic fever-panniculitis-dermatosis syndrome

Disease Export to PDF
Name:
Infantile-onset periodic fever-panniculitis-dermatosis syndrome
Description:
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.
ORPHAcode:
500062
Synonyms:
ORAS
OTULIN deficiency
OTULIN-related autoinflammatory syndrome
Otulipenia
XREF(s):
Analyte(s):
Created:
13 May 2019 - 01:02
Changed:
22 Jun 2023 - 16:14