Multiple symmetric lipomatosis type I in a female patient with neuropathy: no association with alcoholism or mitochondrial DNA m.8344A>G mutation

Abstract

A 69-year-old Caucasian HIV-negative woman presented to the Department of Dermatology at the Patras University Medical Center with a 3-year history of progressively enlarging disfiguring masses over the upper part of her body. She had no history or evidence of systemic infections, autoimmune or neoplastic disorders. Additionally, she had no history of alcohol abuse and her family history was unremarkable. The patient presented with a height of 158 cm, a weight of 108 kg and a body mass index of 43.3. Physical examination revealed extremely large, painless and symmetrical subcutaneous masses on the neck, shoulders, proximal arms and axillae (Figure 1). She experienced no discomfort, dyspnea, dysphagia or dysphonia. Histological examination of the nonencapsulated masses showed a network of mature adipocytes without evidence of increased vascularity or malignancy. Based on these findings, the diagnosis of multiple symmetric lipomatosis (MSL) (type I) was established. Figure 1 Anterior ( A ) and lateral view of the patient ( B ). On clinical neurologic examination, there was a weakness of the proximal leg muscles (4/5 Medical Research Council score), whereas motion of the shoulder muscles was limited probably due to the fat deposits. Apart from ankle reflexes, all tendon reflexes were present and symmetrical. Pain and touch sense were moderately reduced in a stocking distribution up to the knee level bilaterally and normal in the upper limbs. Vibration sense and …