Lipomatous Infiltration in Tuberous Sclerosis Complex – A Case Series and Literature Review

Abstract

Diffuse Lipomatosis is a dermatological lesion consisting of a poorly circumscribed, infiltrative overgrowth of mature adipose tissue that usually affects the trunk and the extremities. The lesions in the Tuberous Sclerosis Complex (TSC) are usually hamartomatous in nature, but lesions arising from adipocytes are rare. There are only three previous reports of association of TSC with diffuse lipomatosis. Herein we present a case series of diffuse lipomatosis in three subjects with TSC and proceed to review the literature for any other reported cases. On the basis of the three index cases and identification of three more cases in the literature, we believe that there is an association of diffuse lipomatosis with TSC that has not been appreciated until now. We believe that this association in some selected cases will serve to improve diagnosis, surveillance, and management..

Periodontoid Pseudotumor in Tuberous Sclerosis Associated With Neck Diffuse Lipomatosis

“…Diffuse lipomatosis in one part of the body is a very rare finding in patients with tuberous sclerosis and has been previously reported only in six patients. It is observed on the lower limbs in most cases, and in the subcutaneous lumbar region and the thoracic region around the lungs [3][4][5][6]. These previous reports are summarized in Table 1.…”

“…Other major abnormalities include kidney angiomyolipomas, lymphangioleiomyomatosis of the lung, heart rhabdomyoma, and retinal hamartomas [1,2]. Six patients were reported to have diffuse overgrowth of fatty tissue in one part of the body, defined as diffuse lipomatosis [3][4][5][6].…”