Multiple Symmetric Lipomatosis (Madelung's Disease) Caused by the MERRF (A8344G) Mutation: A Report of Two Cases and Review of the Literature.

Multiple symmetric lipomatosis (MSL) was first described by Brodie in 1846 and is characterized by accumulation of non-encapsulated lipomas in the cervical-cranial-thoracic region. Alcohol consumption is regarded as essential in lipoma development by some. Mitochondrial dysfunction was first reported in 1991. Since then, there has been controversy regarding etiology of MSL, with a number of studies supporting and some refuting the role of mitochondrial dysfunction. We report on 2 cases of MSL with pathologic (ragged-red fibers) and molecular (A8344G mutation) features of mitochondrial dysfunction. A literature review revealed that mitochondrial gene dysfunction was evident in 28% of MSL cases. Furthermore, the MERRF mutation (A8344G) was detected in 16% and mitochondrial gene deletions in 12% of MSL cases. Therefore, clinicians need to be vigilant of the fact that a significant proportion of the MSL phenotype results from mitochondrial gene mutations and/or deletions.