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Farber disease (also known as Farber's lipogranulomatosis, acid ceramidase deficiency, "Lipogranulomatosis", [2] and ASAH1-related disorders) is an extremely rare, progressive, autosomal recessive lysosomal storage disease caused by a deficiency of the acid ceramidase enzyme.
The disease presumably begins with a deep vein thrombosis that progresses to total occlusion of the deep venous system. It is at this stage that it is called phlegmasia alba dolens. It is a sudden (acute) process. The leg, then, must rely on the superficial venous system for drainage.
Mandy Sellars (born 20 February 1975 in Lancashire, United Kingdom) is a British woman with a rare genetic mutation that has resulted in extraordinary growth in both of her legs. In 2006, some doctors diagnosed Sellars as having Proteus syndrome , a very rare condition thought to affect only 120 people worldwide, [ 1 ] but more recent diagnoses ...
Mutations in this gene have been associated with a lysosomal storage disorder known as Farber disease and, recently, with a rare neurodegenerative condition known as spinal muscular atrophy with progressive myoclonic epilepsy. [8] Two transcript variants encoding distinct isoforms have been identified for this gene. [7]
A woman exhibiting steatopygia. It has been suggested that this feature was once more widespread. Paleolithic Venus figurines, sometimes referred to as "Steatopygian Venus" figures, discovered from Europe to Asia presenting a remarkable development of the thighs, and even the prolongation of the labia minora, have been used to support this ...
Schamberg's disease, (also known as "progressive pigmentary dermatosis of Schamberg", [1] "purpura pigmentosa progressiva" (PPP), [1] and "Schamberg's purpura" [1]) is a chronic discoloration of the skin found in people of all ages, usually only affecting the feet, legs or thighs or a combination. It may occur as a single event or subsequent ...
Ginger Zee issued a direct response this week to a social media user who criticized the way she looked while on live television.. In a video uploaded to Instagram on Wednesday, Dec. 4, the Good ...
Lipedema / Dercum's disease differentiation – these conditions may co-exist. Dercum's disease is a syndrome of painful growths in subcutaneous fat. Unlike lipedema, which occurs primarily in the trunk and legs, the fatty growths can occur anywhere on the body. [20] [21]