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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 ...
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.
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.
Barraquer–Simons syndrome (acquired partial lipodystrophy, cephalothoracic lipodystrophy, progressive lipodystrophy) Benign symmetric lipomatosis (benign symmetric lipomatosis of Launois–Bensaude, Madelung's disease) Centrifugal abdominal lipodystrophy (centrifugal lipodystrophy, lipodystrophia centrifugalis abdominalis infantalis)
Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome is an autosomal recessive disorder that presents itself via various autoinflammatory responses throughout the body, multiple types of skin lesions, and recurrent long-term fever symptoms. [1] The current known cause for the disorder is a ...
SHORT syndrome is an uncommon autosomal-dominant condition marked by ocular depression, Rieger anomaly, teething delay, small height, hyperextensibility of joints, and/or hernias. It was characterized in 1975.
The exact cause of this condition is not known, but it involves collagen degeneration and a granulomatous response in the layer of the skin called the dermis, often affecting the deeper fat layer and thickening dermal blood vessels. Diagnosis is confirmed through a skin biopsy showing inflammatory cell infiltrate and necrotising vasculitis.
Lipoprotein lipase deficiency is a genetic disorder in which a person has a defective gene for lipoprotein lipase, which leads to very high triglycerides, which in turn causes stomach pain and deposits of fat under the skin, and which can lead to problems with the pancreas and liver, which in turn can lead to diabetes.