Benign Symmetric Lipomatosis (Madelung’s Disease): A case report of new variant

• Main Authors: Nattakamon Supanon, Waranya Boonchai, Sitthichoke Taweepraditpol
• Format: Article
• Language: English
• Published: Mahidol University 2020-07-01
• Series: Siriraj Medical Journal
• Subjects: Benign symmetric lipomatosis; Madelung’s disease; “Pop-eye†appearance
• Online Access: https://he02.tci-thaijo.org/index.php/sirirajmedj/article/view/243642

Benign symmetric lipomatosis (BSL) is characterized by the presentation of numerous symmetric non-tender fatty tumors in the neck, suboccipital region, proximal extremities and upper parts of the trunk, typically noted as a “pseudoathletic†appearance. The etiology of BSL remains unknown but mitochondrial mutations have been found in some patients. The mitochondrial cytopathy was suggested to be studied in all BSL patients especially those with neuropathy. We have presented a case of BSL with reverse fat distribution, which we named the “Pop-eye†appearance in which the fatty tumor was distributed at both the distal part of the upper extremities and the proximal part of the lower extremities. A study of the mitochondrial tRNA lysine gene did not reveal mutation at position 8344.