Multiple symmetric lipomatosis (Madelung's disease) caused by the MERRF (A8344G) mutation: a report of two cases and review of the literature
PST Chong, S Vucic, ET Hedley-Whyte… - Journal of clinical …, 2003 - journals.lww.com
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) …
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) …
