Symptoms and signs present in infancy to adolescence with erythematous macules, papules, and panniculitic nodules, muscular atrophy, and severe panniculitis-induced lipodystrophy affecting the face, arms, and thorax. The muscular atrophy and lipodystrophy then progress to involve the abdomen and lower extremities. Other features documented across several case reports include microcytic anemia, periodic fever, basal ganglia calcification, hypergammaglobulinemia, hepatosplenomegaly, and cognitive delay. Case reports document patients living into their 40s, but no data has been reported on average life expectancy.
M04.8 – Other autoinflammatory syndromes
702449004 – Autoinflammation, lipodystrophy and dermatosis syndrome
Differential Diagnosis & Pitfalls