ECE2013 Poster Presentations Clinical case reports - Thyroid / Others (62 abstracts)
Barraquer-Simons syndrome
Maria Fatima Baracho 1 , Maria Goreti Santos 1 , Beatriz Amaral 1 , Raissa Carmo 1 , Renata Rafael 1 , Luciana Melo 1 , Maria Augusta Araujo 1 , Gemma Santos 1 , Antonio Oliveira-Filho 2 & Adriana Nunes 1
1University of Rio Grande do Norte, Natal/RN, Brazil; 2Municipal Consortium, Picui/PB, Brazil.
The Barraquer-Simons syndrome is a rare form of partial symmetric lipodystrophy with involvement of the face and upper body, of unknown cause, characterized by loss of subcutaneous fat in the face and started stretching for the upper body.
Case report: Female patient, 26 years old, presenting morphologic change in facies, chest, upper limbs, lower limbs and abdomen since she was 10 years old. Last year, she has increased weight at 30%, with apparent muscle hypertrophy, clitorimegaly, facial hypertrichosis and decreased libido. Physical examination shows normal thyroid palpation, absence of umbilical hernia and bone abnormalities. Menarche at 13 years, with regular menstrual cycles. Deafness and epilepsy were excluded.
Commentary: The Barraquer-Simons syndrome was described in 1904, predominantly affects females (4:1), and the appearance of symptoms commonly happens at the end of the first or beginning of the second decade of life. Its origin is unclear, but associations have been made with genetic mutations, neuroendocrine disorders and autoimmune diseases. Most cases appear to be isolated in their families. Occasionally, functional abnormalities such as deafness, epilepsy, mental retardation, neuropathy, myopathy, and vascular disease may be associated with dermatomyositis. Diagnosis is mainly clinical and their distinctions with other syndromes such as Cockayne, SHORT, Berardinelli-Seip syndrome and bilateral Parry-Romberg. Currently, facial reconstruction techniques have been used to restore facial contours, and the disease management must include the monitoring and treatment of complications, because it is a phenocopy of other syndromes such as lipodystrophy which presents diabetes and hypertriglyceridemia. Barraquer-Simons syndrome is quite rare disease, mainly producing facial changes, to which are directed most of the treatments, however studies should be conducted to clarify the pathophysiology of the disease.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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