Familial symmetric lipomatosis

Familial Symmetric Lipomatosis (FSL), also known as Multiple Symmetric Lipomatosis (MSL), is a rare condition characterized by the symmetric growth of lipomas (non-cancerous fat tumors) around the neck, shoulders, upper arms, and/or upper trunk. Despite its benign nature, FSL can lead to significant cosmetic concerns and, in some cases, physical discomfort or functional impairment. The condition is most commonly observed in men of Mediterranean descent, although cases have been reported worldwide.

Etiology and Pathogenesis

The exact cause of Familial Symmetric Lipomatosis remains unclear, but it is believed to have a genetic component due to its familial occurrence. Mutations in the mitochondrial DNA have been suggested as a potential underlying mechanism, which might explain the observed alterations in adipocyte (fat cell) proliferation and differentiation. Alcoholism has also been associated with FSL, although the relationship is not fully understood.

Clinical Presentation

Patients with FSL typically present with multiple, symmetrically distributed lipomas. These lipomas are usually located around the neck (creating a "Madelung's collar"), shoulders, upper arms, and upper trunk. Unlike typical lipomas, those associated with FSL are often painful or tender. The condition can lead to significant cosmetic disfigurement and, in severe cases, may impair neck movement or cause neuropathic pain due to nerve compression.

Diagnosis

Diagnosis of Familial Symmetric Lipomatosis is primarily clinical, based on the characteristic appearance and distribution of lipomas. Imaging studies, such as MRI or CT scan, can help in assessing the extent of the disease and in planning treatment. Biopsy of the lipomas may be performed to rule out liposarcoma, a rare but more serious condition.

Treatment

There is no cure for FSL, and treatment is mainly symptomatic. Surgical removal of the lipomas can improve cosmetic appearance and relieve discomfort or functional impairment. However, surgery carries the risk of recurrence, as new lipomas may develop over time. Liposuction has also been used with varying degrees of success. In cases associated with alcoholism, cessation of alcohol intake may slow the progression of the disease.

Prognosis

The prognosis for individuals with Familial Symmetric Lipomatosis is generally good, as the condition is benign. However, the cosmetic and functional impairments can significantly affect quality of life. Regular follow-up is recommended to monitor for the development of new lipomas and to manage any complications.

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