Even though Brodie is said to have first described diffuse symmetrical lipomatosis with predilection for the neck already in the 1846 (Clinical Lectures on Surgery, Delivered at St. George's Hospital Philadelphia: Lea and Blanchard pub. Pp 201-201. Brodie, B.C.) still unknown is today the pathogenesis of Launois Bensaude' Lipomatosis.
Klopstock et Al. are found in muscle biopsy specimens ragged and red fibers, pathologic subsarcolemmal accumulations of mitochondria, suggesting a mitochondrial abnormality. Biochemical analysis of respiratory chains shows a decreased of cytochrome c oxidase activity.
Multiple deletions of mitochondrial DNA are found in one case (Southern Blot analysis).Gamez J. et Al. describe the 8344 mutation in the tRNA (Lys) gene of mitochondrial (mtDNA ) in another case.
The distribution of the mutation was unusual because the proportion of mutated genomes was higher in blood and lipomas than in muscle tissue.
The distribution of the mutation was unusual because the proportion of mutated genomes was higher in blood and lipomas than in muscle tissue.
Therefore, using lymphocytes of patients a important decreasing in oxygen consumption of intact lymphocytes as a decreased activity of components of the respiratory chains were detected. ( Becker-Wegerich et Al.).
Consequently, the mutations and deletions of mitochondrial DNA, can be hypothetical "Primum Movens" of Launois Bensaude's Lipomatosis.
Prof. Camillo O. DI CICCO, M.D.
14th Congress of the European Academy of Dermatology and Venereology, London, UK.
