Інфантильний синдром періодичної лихоманки-паннікуліту-дерматозу
ORPHA:500062· ICD-10 D89.8· Infantile-onset periodic fever-panniculitis-dermatosis syndrome
Визначення(English summary)
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.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal recessive
- Вік початку
- Infancy, Neonatal