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Familial partial lipodystrophy, also known as Köbberling–Dunnigan syndrome, [2] is a rare genetic metabolic condition characterized by the loss of subcutaneous fat. [ 3 ] : 495 FPL also refers to a rare metabolic condition in which there is a loss of subcutaneous fat in the arms, legs and lower torso.
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 .
Familial Partial Lipodystrophy, Dunnigan Type Autosomal dominant is the manner of inheritance of this condition Dunnigan-type familial partial lipodystrophy , also known as FPLD Type II and abbreviated as ( FPLD2 ), is a rare monogenic form of insulin resistance characterized by loss of subcutaneous fat from the extremities , trunk , and ...
Congenital generalized lipodystrophy, also known as Berardinelli–Seip lipodystrophy was first described in 1954 by Berardinelli [18] and later by Seip in 1959. [19] The gene for type 1 CGL was identified as AGPAT2 at chromosome 9q34, [20] and later the gene for type 2 CGL was identified as BSCL2 at chromosome 11q13. [21]
Many discrete, encapsulated lipomas form on the trunk and extremities, with relatively few on the head and shoulders. [1] In 1993, a genetic polymorphism within lipomas was localized to chromosome 12q15 , where the HMGIC gene encodes the high-mobility-group protein isoform I-C. [ 2 ] This is one of the most commonly found mutations in solitary ...
Lipoatrophic diabetes is a type of diabetes mellitus presenting with severe lipodystrophy in addition ... Familial partial lipodystrophy; Congenital generalized ...
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.
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.