Do you know this syndrome?

Abstract

SYNDROME IN QUESTION CASE REPORTA 65 year-old man presented for evaluation of multiple widespread nodules in his body. The lesions were long standing and began during his childhood. More lesions appeared over time. On physical examination multiple, subcutaneous, soft, mobile and non painful nodules and tumors were observed in the arms, legs and abdomen distorting the affected areas (Figures 1, 2 and 3). His past medical history was remarkable for diabetes mellitus and hepatocarcinoma secondary to chronic HBV infection. He denied alcohol consumption. Similar but less extensive lesions were observed in his two brothers and father. Some lesions were surgically excised because they caused functional discomfort. The histopathological examination showed the presence of globules of mature white adipose tissue surrounded by thin fibrous capsules. The analytical study showed no significant abnormalities including lipid abnormalities. Based on the characteristic clinical history, family history and histopathology the diagnosis of familial multiple lipomatosis (FML) was made.

Syndromic Lipomatosis of the Head and Neck: A Review of the Literature

“…Familial Multiple Lipomatosis [1][2][3][4][5][6][7][8][9][10] Familial multiple lipomatosis (FML) is a predominantly autosomal dominant hereditary syndrome that usually presents with multiple, discrete, encapsulated lipomas found on the trunk, extremities, and occasionally in the neck and shoulders [1]. FML is a very rare disease with a reported incidence of 0.002 % and an increased prevalence in men, which was confirmed by our review (76 % male).…”

“…1 and 2a). They present as solitary lesions or in clusters of over 100 lesions [3], with sizes varying from a few millimeters in diameter to 25 centimeters, resembling ''a bunch of grapes'' [2,4]. Features that distinguish FML from MSL are its relative lack of occurrence in the neck and shoulders, as well as its wellcircumscribed nature [5].…”

A case of multiple lipomas coexisting with angiolipomas: Familial multiple lipomatosis or a distinct entity?

“…Therefore, they should be kept in mind in the differential diagnosis of familial multiple lipomatosis. Surgical excision, liposuction and lipolysis with phosphatidyl choline injection are some of the options in the treatment of familial multiple lipomatosis [7].…”

“…Besides, they usually do not require treatment like lipomas. Therefore, familial angiolipomatosis is generally considered as a subtype of familial multiple lipomatosis [7,8]. However, Hapnes et al and Kumar et al regard familial multiple angiolipomatosis as a distinct disease [9,10].…”

Dercum's disease: a rare and underdiagnosed disease

“…Exact prevalence has not yet been defined. 1 , 4 The diagnosis is clinical and rest on basic criteria that include overweight or generalized obesity and chronic pain (> 3 months) in the adipose tissue. 1 , 5 In the past, asthenia and psychiatric symptoms such as depression, emotional instability and sleep disturbances were considered as cardinal symptoms and were part of the diagnostic criteria.…”