Proteasome-associated autoinflammatory syndromes
PRAAS include chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome, Japanese autoinflammatory syndrome with lipodystrophy (JASL), joint contractures, muscular atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP syndrome), and Nakajo-Nishimura syndrome (NNS).
Patients with PRAAS typically present at birth or in early infancy with periodic fever, variable skin eruptions, lipodystrophy, hepatosplenomegaly, and muscular atrophy and myositis, accompanied by anemia of chronic disease and elevated acute phase reactants (ESR, C-reactive protein [CRP]). Flares and inflammatory symptoms are typically noted by 6 months of age, and patients accumulate progressive damage from chronic inflammation during childhood.
M04.8 – Other autoinflammatory syndromes
702449004 – Autoinflammation, lipodystrophy and dermatosis syndrome
Differential Diagnosis & Pitfalls
- Sweet syndrome
- Erythema nodosum
- Urticarial vasculitis
- Deep gyrate erythema
- Juvenile dermatomyositis
- Juvenile systemic lupus erythematosus
- Cryopyrin-associated periodic syndrome (CAPS)
- Familial lipodystrophy syndromes – no fever, presents as young adult or in middle age
- Leukemia cutis
- Aicardi-Goutières syndrome (AGS)