Tuberous sclerosis complex: A case report

Abstract

Tuberous sclerosis complex is an unusual autosomal dominant neurocutaneous syndrome characterized by the development of benign tumors affecting different body systems affecting the brain, skin, retina, and viscera. It is characterized by cutaneous changes, neurologic conditions, and the formation of hamartomas in multiple organs leading to morbidity and mortality. The most common oral manifestations are fibromas, gingival hyperplasia, and enamel hypoplasia. The management of these patients is often multidisciplinary involving specialists from various fields. Here, we present a case report of a 26-old-year male patient with characteristic clinical, radiological, and histological features of tuberous sclerosis complex.

Tuberous sclerosis complex: A case report and literature review

“…It is characterized by neuropsychological manifestations, such as seizures, autism and cognitive disability and the formation of unusual tumour-like growths (hamartomas) in more than one organ system. 1 TSC was first described by von Recklinghausen in 1862 and later elaborated by a French neurologist Desire-Magloire Bourneville in 1880, henceforth also known as Bourneville's disease. In 1920 Van der Hoeve first recognized retinal involvement in tuberous sclerosis.…”

Peripheral cemento-ossifying fibroma associated with TUBEROUS SCLEROSIS

“…The diagnosis of TSC is based on the identification of hamartomas in more than one system. [1] The Pukazhmurasu et. al., Am.…”

“…J. PharmTech Res. 2020; 10(4) ISSN: 2249-3387 www.ajptr.com abnormal genes is located at one of two locations, the long arm of chromosome 9 (9q34) and the short arm of chromosome 16 (16p 13.3) designated as TSC2 (encoding tuberin) [1] The presence of two major characteristics or one major and two minor characteristics was considered adequate for a definitive diagnosis. The key characteristics include(a)hypomelanotic macules (=3), a minimum diameter of 5 mm,(b)facial angio fibroma(=3) or fibrous cephalic plaque, (c) ungula fibromas (= 2), and (d) shagreen patches.…”

“…Intervention programs including special schooling and occupational therapy may benefit individuals with special needs and developmental concern. [1] Modalities of treatment for some of the TSC symptoms are currently in progress. The use of topical 0.1 per cent rapamycin on facial angiofibroma has been demonstra ted in recent studiesThe use of mTOR inhibitors in the regression of different growths of hamarto mata is a new way of handling TSC.…”

Clinical Manifestation, Surveillance, and Complication in Tuberous Sclerosis Complex in Dr. Moewardi Hospital

“…Tuberous Sclerosis Complex (TSC) or also called Bourneville disease is an autosomal dominant genetic disease that involves multiorgan disorders involving the brain, skin, kidneys, liver, lungs, heart, and in some cases may involve the retina, ginggiva, bone and digestive system (Curatolo et al, 2018;Krueger et al, 2013;Northrup et al, 2013). Sherlock then introduced this syndrome as a trier of Tuberous sclerosis with the abbreviation EPILOIA (Epi: epilepsy, Loi: Low Intelligence, A: Adenoma sebaceum) Sarkar et al, 2016). This syndrome is very important in the neurology because more than 90% of TSC patients develop neurological symptoms such as epilepsy, austism spectrum disorders (ASDs), intelligence disorders, sleep disorders, behavioral disorders, TSC-related neuropsychiatric disorders (TAND) which cause separate problems in patients and patient family (Jülich and Sahin, 2014).…”