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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]
Keppen–Lubinsky syndrome is an extremely rare congenital disorder.The minimal clinical criteria for the Keppen–Lubinsky syndrome are as follows: normal growth parameters at birth, postnatal growth failure, peculiar face with an aged appearance (large prominent eyes, a narrow nasal bridge, a tented upper lip, a high palate, an open mouth), skin tightly adherent to facial bones, generalized ...
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.
Barraquer–Simons syndrome is a rare form of lipodystrophy, which usually first affects the head, and then spreads to the thorax. [2] [3] It is named for Luis Barraquer Roviralta (1855–1928), a Spanish physician, and Arthur Simons (1879–1942), a German physician.
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 generalized lipodystrophy (Berardinelli–Seip syndrome) Cytophagic histiocytic panniculitis; Drug-induced lipodystrophy; Factitial panniculitis; Familial partial lipodystrophy (Köbberling–Dunnigan syndrome) Gouty panniculitis; Hemihyperplasia–multiple lipomatosis syndrome; HIV-associated lipodystrophy [nb 8] Involutional ...