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Tuberous sclerosis complex (TSC) is a rare multisystem autosomal dominant genetic disease that causes non-cancerous tumours to grow in the brain and on other vital organs such as the kidneys, heart, liver, eyes, lungs and skin.
Date: 1 May 2018: Source: Portocarrero LKL, Quental KN, Samorano LP, Oliveira ZNP, Rivitti-Machado MCDM (2018). "Tuberous sclerosis complex: review based on new diagnostic criteria.
It contains 22 large coloured plates with 400 figures presented in a systematic order. On page 20, fig. 1 is a drawing that is regarded as the earliest description of tuberous sclerosis. Entitled "végétations vasculaires", Rayer notes these are "small vascular, of papulous appearance, widespread growths distributed on the nose and around the ...
The history of tuberous sclerosis (TSC) research spans less than 200 years. TSC is a rare, multi-system genetic disease that can cause benign tumours to grow on the brain or other vital organs such as the kidneys , heart , eyes , lungs , and skin .
Tuberous sclerosis proteins 1 and 2, also known as TSC1 (hamartin) and TSC2 (tuberin), form a protein-complex. The encoding two genes are TSC1 and TSC2. The complex is known as a tumor suppressor. Mutations in these genes can cause tuberous sclerosis complex.
Nearly 50% of post-puberty individuals with tuberous sclerosis have KTs. [11] (Tuberous sclerosis is also associated with a second type of angiofibroma, adenoma sebaceum, also termed facial angiofibroma, in ~75% of cases. [14]) Individuals presenting with KTs that do not have tuberous sclerosis commonly present with a single lesion in a nail ...
However, angiofibromas are more common in tuberous sclerosis. [6] Along with the tumors, other skin conditions are seen in people with Birt–Hogg–Dubé syndrome. About 40% of people or families with the disease have papules in their mouths, which can be located on the cheeks (buccal mucosa), tongue, gums, or lips.
Adenoma sebaceum presence represents one of the major diagnostic criteria to confirm the diagnosis of tuberous sclerosis. [5] When adenoma sebaceum presents with seizures and mental retardation (Vogt's triad), it indicates that cranial imaging is necessary, other differential diagnoses for this disorder include acne vulgaris, rhinophyma, and sebaceous hyperplasia.