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Definition

An autosomal recessive autoinflammatory disorder characterized by early childhood onset of recurrent fever, joint stiffness and severe contractures of the hands and feet, and erythematous skin lesions with subsequent development of lipodystrophy and laboratory evidence of immune dysregulation. Accompanying features may include muscle weakness and atrophy, hepatosplenomegaly, and microcytic anemia.

Acronym

PRAAS1

Synonyms

Autoinflammation, lipodystrophy, and dermatosis syndrome
CANDLE
Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome
JMP syndrome
Joint contractures muscular atrophy microcytic anemia and panniculitis-induced lipodystrophy
Nakajo-Nishimura syndrome
Nakajo syndrome
NKJO
NNS
Nodular erythema with digital changes
Secondary hypertrophic osteoperiostosis with pernio

 
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