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A more specific term, lipoatrophy (from Greek lipo 'fat' and dystrophy 'abnormal or degenerative condition'), is used when describing the loss of fat from one area (usually the face). This condition is also characterized by a lack of circulating leptin which may lead to osteosclerosis .
The Hippocratic facies (Latin: facies Hippocratica) [1] is the change produced in the face recognisable as a medical sign known as facies and prognostic of death. It may also be seen as due to long illness , excessive defecation , or excessive hunger , when it can be differentiated from the sign of impending death.
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.
There are differences in how type 1 vs type 2 patients are affected by the disease. In type 1 patients, they still have mechanical adipose tissue, but type 2 patients do not have any adipose tissue, including mechanical. [9] In type 2 patients, there is a greater likelihood of psychomotor retardation and intellectual impairment. [10]
Lipodystrophy, or the absence of adipose tissue beneath the skin, is another common characteristic of the condition that primarily affects the face, arms, and chest. The thin, transparent skin shows more blood vessels when there is insufficient adipose tissue.
The disease is not easily definable. The main form of diagnosis is presumptive, if the person has the usual triad of preaxial polydactyly with cutaneous syndactyly of at least one limb, macrocephaly, and hypertelorism. However, a definitive diagnosis can be made if there is a phenotype that is caused by a Gcps and a Gli3 gene mutation. It can ...
Parry–Romberg syndrome (PRS) is a rare disease presenting in early childhood [1] characterized by progressive shrinkage and degeneration of the tissues beneath the skin, usually on only one side of the face (hemifacial atrophy) but occasionally extending to other parts of the body. [2]