Proteasome-associated Autoinflammatory Syndromes (PRAAS)
PRAAS is an autosomal recessive disorder that presents with partial
lipodystrophy, plaques on the face and extremities, basal ganglia
calcifications, and joint contractures9.
Other entities that fall into the category of Molecular Lipodystrophies
include
- Short stature, Hyperextensibility of Joints and/or Inguinal hernia,
Ocular Depression, Reiger Anomaly and Teething Delay Syndrome (SHORT)
- Neonatal Progeroid Syndrome/Wiedemann-Rautenstrauch Syndrome (WR)
Marfanoid-Progeroid-Lipodystrophy Syndrome (MPL)