Barraquer-Simons syndrome
Barraquer-Simons syndrome (pronunciation: bah-rah-ker see-mons sin-drome) is a rare form of lipodystrophy, a medical condition characterized by the abnormal distribution of fat tissue in the body.
Etymology
The syndrome is named after the Spanish ophthalmologist Jose Barraquer Roviralta and the Dutch physician Petrus Johannes Simons, who first described the condition in the early 20th century.
Definition
Barraquer-Simons syndrome, also known as Acquired Partial Lipodystrophy or Cephalothoracic Lipodystrophy, is a rare disorder characterized by the progressive loss of subcutaneous fat from the face, neck, upper extremities, thorax and abdomen. The lower body is typically unaffected. The onset usually occurs during childhood, often between the ages of 3 and 15.
Symptoms
The most noticeable symptom of Barraquer-Simons syndrome is the loss of fat from the upper body, which can give the affected individual a gaunt appearance. Other symptoms may include insulin resistance, hypertriglyceridemia, hepatomegaly, and nephropathy. Some individuals may also develop autoimmune diseases.
Diagnosis
Diagnosis of Barraquer-Simons syndrome is based on the clinical presentation of the patient, including the characteristic loss of subcutaneous fat. Additional tests may be conducted to rule out other forms of lipodystrophy and to assess the extent of the condition.
Treatment
There is currently no cure for Barraquer-Simons syndrome. Treatment is symptomatic and supportive, focusing on managing the associated conditions such as insulin resistance and hypertriglyceridemia. This may involve the use of medication, dietary modifications, and regular monitoring.
See also
External links
- Medical encyclopedia article on Barraquer-Simons syndrome
- Wikipedia's article - Barraquer-Simons syndrome
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