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Congenital generalized lipodystrophy (also known as Berardinelli–Seip lipodystrophy) is an extremely rare autosomal recessive condition, characterized by an extreme scarcity of fat in the subcutaneous tissues. [2] It is a type of lipodystrophy disorder where the magnitude of fat loss determines the severity of metabolic complications. [3]
Lipodystrophy can be divided into the following types: [5]: 495–7 Congenital lipodystrophy syndromes Congenital generalized lipodystrophy (Berardinelli-Seip syndrome) Familial partial lipodystrophy; Marfanoid–progeroid–lipodystrophy syndrome; Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature syndrome [6]
Acquired generalized lipodystrophy (AGL), also known as Lawrence syndrome [1] and Lawrence–Seip syndrome, [1] is a rare skin condition that appears during childhood or adolescence, characterized by fat loss affecting large areas of the body, particularly the face, arms, and legs.
Seipin is a homo-oligomeric integral membrane protein in the endoplasmic reticulum (ER) that concentrates at junctions with cytoplasmic lipid droplets (LDs). Alternatively, seipin can be referred to as Berardinelli–Seip congenital lipodystrophy type 2 protein (BSCL2), and it is encoded by the corresponding gene of the same name, i.e. BSCL2.
Congenital generalized lipodystrophy type 2; Spastic paraplegia 17, autosomal dominant (SPG17); Neuronopathy, distal hereditary motor, 5C (HMN5C); Encephalopathy, progressive, with or without lipodystrophy (PELD).
Congenital bilateral perisylvian syndrome; Congenital contractural arachnodactyly; Congenital generalized lipodystrophy; Congenital insensitivity to pain; Congenital myasthenic syndrome; Congenital nephrotic syndrome; Congenital rubella syndrome; Conn's syndrome; Conorenal syndrome; Conradi–Hünermann syndrome; Constriction ring syndrome ...
Lipodystrophy: Familial partial lipodystrophy (Köbberling–Dunnigan syndrome) Calf muscle /general [50] [7] Adolescence-onset Hypertrophy of calf muscles [50] [7] Congenital generalized lipodystrophy (Berardinelli–Seip syndrome) General [8] Infantile-onset Muscle hypertrophy [8] Hypertonia (spasticity or rigidity) Spastic cerebral palsy ...
Lipoatrophic diabetes is a type of diabetes mellitus presenting with severe lipodystrophy in addition ... Familial partial lipodystrophy; Congenital generalized ...