Endocrine Abstracts

Multiple benign symmetric lipomatosis (Madelung’s disease, Launois–Bensaude syndrome) is significantly rare disease characterised by symmetrical focal deposition of adipose tissue in the neck, upper part of the arms, back, pelvis, and thigh. Although its etiology is uncertain, it has been associated with genetic factors, mitochondrial inheritance and alcoholism. Its pathogenesis seems to include a dysfunction of cAMP and levels of catecholamines in adipocytes. This condition is an important differential diagnosis from obesity. Long-term large lipomatous deposits are cosmetically deforming, and the upper aerodigestive tract and great veins may be compressed. Patients do not effectively lose subcutaneous adipose tissue from lifestyle changes and recurrence after lipectomy is highly frequent. This report presents six cases of non-related patients diagnosed with benign multiple symmetric lipomatosis. Case 1: A 28-years-old, Afro-American woman presented with a mass deposition in the back and neck (horse collar) since her 8 years of age and later associated with polyneuropathy. Her father has similar condition. The patient was treated with lipectomy twice with recurrence. Case 2: A 36-years-old woman without family history presented with mass deposition in the neck and back, observed since 30 years old. Also clinical and karyotype findings confirmed Down’s syndrome. The patient has refused surgical treatment. Case 3: A 55-years-old woman, with no comorbidities nor family history, presented with fat deposition in both upper arms, evident for 15 years. Case 4: A 31-years-old woman, with no family history and no other comorbidities, presented deposition in both arms and the back of the neck (humpback) evident since 20 years old. Case 5: A 32-years-old woman, alcoholic, with family history of Madelung’s disease presented mass in the neck and armpit from 8 years ago. Case 6: A 53-years-old man, alcoholic for seven years, with no family history, presented deforming fat deposition in the neck and upper chest evident seven years ago. He has refused surgical treatment and ceased alcoholism. In all patients, CT findings confirmed the presence of fat deposits. These cases illustrate the variability of clinical presentation of benign multiple symmetric lipomatosis. Fat deposition site could vary. Association with polyneuropathy, alcoholism, dyslipidaemia, Down’s syndrome and different inheritance patterns were present. Nevertheless, none of the cases presented diabetes, hypertension, epilepsy or neuromuscular disorders. In summary, the reported cases support the idea that such syndrome may have intervening factors inducing a variety of distinct phenotypic patterns.