Multiple Symmetric Lipomatosis

Abstract

A significant number of medicolegal deaths involve ethanol. Deaths may be related to the acute, intoxicating effects of ethanol, either in decedents or within persons responsible for causing the deaths of others. Additionally, deaths may be related to chronic alcoholism. A chronic alcoholic may display characteristic external features which allow an observer, such as a forensic pathologist or other physician, to conclude that he/she is probably an alcoholic. Herein, the authors report two decedents with a rare condition known as "multiple symmetric lipomatosis" (MSL), which has a strong correlation with chronic alcoholism. Identification of the peculiar features associated with MSL should prompt the forensic pathologist to consider chronic alcoholism as a probable diagnosis.

Multiple Symmetric Lipomatosis (Madelung Disease) in a Large Canadian Family With the Mitochondrial MTTK c.8344A>G Variant

“…MSL has an estimated incidence of 1:25 000, with predominance in some European and Asia-Pacific populations. 1 - 5 MSL typically presents in the third to sixth decades of life with the formation of soft lumps around the neck, shoulders, and upper back. 3 Lipomatosis progressively increases in both size and distribution thereafter; growth rates are variable, often with long, interspersed periods of dormancy.…”

“…Madelung disease, or multiple symmetric lipomatosis (MSL; OMIM 151800), is a rare disorder of adipocyte differentiation that is characterized by benign, diffuse lipomatosis affecting cephalic, cervical, and upper thoracic subcutaneous depots. 1 - 5 Although MSL has been primarily regarded as a cosmetic deformity, associated features sometimes include sensory, motor and autonomic neuropathy, and myopathy. 1 - 5 Dyslipidemia, insulin resistance, hypothyroidism, hypertension, and renal and hepatic disease are relatively uncommon.…”

“… 1 - 5 Although MSL has been primarily regarded as a cosmetic deformity, associated features sometimes include sensory, motor and autonomic neuropathy, and myopathy. 1 - 5 Dyslipidemia, insulin resistance, hypothyroidism, hypertension, and renal and hepatic disease are relatively uncommon. 1 Chronic excessive alcohol use has been linked with accelerated progression of lipomatosis in some MSL patients.…”

“… 1 - 5 Dyslipidemia, insulin resistance, hypothyroidism, hypertension, and renal and hepatic disease are relatively uncommon. 1 Chronic excessive alcohol use has been linked with accelerated progression of lipomatosis in some MSL patients. 1 A minority of patients have been reported to have large-scale deletions and specific point mutations within mitochondrial DNA (mtDNA), as well as in some nuclear genes encoding mitochondrial proteins, such as MFN2 encoding mitofusin-2.…”

“… 1 Chronic excessive alcohol use has been linked with accelerated progression of lipomatosis in some MSL patients. 1 A minority of patients have been reported to have large-scale deletions and specific point mutations within mitochondrial DNA (mtDNA), as well as in some nuclear genes encoding mitochondrial proteins, such as MFN2 encoding mitofusin-2. 6 , 7 In a multigenerational Canadian kindred with at least 8 family members with MSL, we report the complete co-segregation of the ultrarare mitochondrial gene MTTK c.8344A>G variant and the phenotype.…”