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Lipodystrophy syndromes are a group of genetic or acquired disorders in which the body is unable to produce and maintain healthy fat tissue. [ 1 ] [ 2 ] The medical condition is characterized by abnormal or degenerative conditions of the body's adipose tissue .
Patients with Marfan-progeroid-lipodystrophy syndrome typically exhibit congenital lipodystrophy and a neonatal progeroid appearance. [80] [81] Sometimes identified as having neonatal progeroid syndrome, the term is a misnomer since they do not exhibit accelerated aging. [82] The condition is caused by mutations near the 3'-terminus of the FBN1 ...
Werner syndrome patients exhibit growth retardation, short stature, premature graying of hair, alopecia (hair loss), wrinkling, prematurely aged faces with beaked noses, skin atrophy (wasting away) with scleroderma-like lesions, lipodystrophy (loss of fat tissues), abnormal fat deposition leading to thin legs and arms, and severe ulcerations around the Achilles tendon and malleoli (around ankles).
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.
Unlike other "accelerated aging diseases", such as Werner syndrome, Cockayne syndrome, or xeroderma pigmentosum, progeria may not be directly caused by defective DNA repair. These diseases each cause changes in a few specific aspects of aging but never in every aspect at once, so they are often called "segmental progerias". [30]
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]
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At least four syndromes have been described that are characterized by the accumulation of fat, and one by the loss of fat; combinations of these may occur in an individual. Gender, age, and pre-therapy body weight appear to influence the severity of BFR in patients. BFR is distinct from lipodystrophy, which simply refers to fat loss.