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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.
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 ...
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]
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.
Lipedema has been described in familial clusters, suggesting a genetic component. [9] It often appears around times of hormonal change such as puberty, pregnancy, and menopause, suggesting a potential hormonal component. [10] Having obesity doesn’t cause lipedema, but more than half of people with this condition have a BMI higher than 35. [11]
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]
It may be associated with pain and other signs of chronic venous insufficiency. The exact cause is unknown. [12] Other forms include: Subcutaneous fat necrosis of the newborn, a form of panniculitis occurring in newborns that is usually self-resolving, that may be a result of hypoxic injury to relatively high levels of brown fat. [2]: 492
The only effective treatments for lipomas caused by familial multiple lipomatosis are liposuction or surgical removal. [6] Steroid injections may also be used to shrink the tumors by causing local fat atrophy. [7] Patients with the condition often seek removal when the lipomas are large, disfiguring, or cause pain. [2]