Abstract

GOMEZ, GR Cabarcas; GONZALEZ, M  and  MORICHELLI, M. TUBEROUS SCLEROSIS COMPLEX: about a clinical case. Rev. argent. dermatol. [online]. 2022, vol.103, n.2, pp.1-10. ISSN 1851-300X.

Tuberous Sclerosis Complex (TSC) is an autosomal dominant multisystem neurocutaneous syndrome with almost complete penetrance but variable expressivity. This genodermatosis occurs upon mutation of TSC1 and TSC2 genes.

It is characterized by the classic triad of seizures, mental retardation and cutaneous angiofibromas. The diagnosis of TSC is based by the presence of major and minor criteria.

We report the case of an adult male patient with personal history of mental retardation in addition with personal and family history of seizures since childhood.

Keywords : Tuberous Sclerosis Complex; neurocutaneous disease; seizures; cutaneous angiofibromas; genodermatosis.

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