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Proteasome-associated autoinflammatory syndromes
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Proteasome-associated autoinflammatory syndromes

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Contributors: Sabrina Popatia, Susan Burgin MD
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Synopsis

Proteasome-associated autoinflammatory syndromes : Hepatosplenomegaly, Muscle atrophy, CRP elevated, ESR elevated, Periodic fever
Proteasome-associated autoinflammatory syndromes (PRAAS) comprise a group of extremely rare conditions with overlapping clinical features. All are autosomal recessive conditions, and they most commonly result from different mutations of the PSMB8 gene, an essential component of proteasomes. Proteasomes are intracellular protease complexes that degrade polyubiquitinated proteins identified for disposal. They are involved in cell cycle regulation, gene repair, and activation of the NF-kappa B and IFN pathways.

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.

Codes

ICD10CM:
M04.8 – Other autoinflammatory syndromes

SNOMEDCT:
702449004 – Autoinflammation, lipodystrophy and dermatosis syndrome

Look For

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Diagnostic Pearls

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Differential Diagnosis & Pitfalls

PRAAS includes CANDLE syndrome, JASL, JMP syndrome, and NNS. Also consider:

Best Tests

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Management Pearls

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Therapy

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References

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Last Reviewed:03/18/2018
Last Updated:06/22/2022
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Proteasome-associated autoinflammatory syndromes
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A medical illustration showing key findings of Proteasome-associated autoinflammatory syndromes : Hepatosplenomegaly, Muscle atrophy, CRP elevated, ESR elevated, Periodic fever
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