Presentation of an affected family with tuberous sclerosis

Abstract

Introduction: tuberous sclerosis is a genetic disease with clinical heterogeneity, an autosomal dominant inheritance pattern, variable expressivity and caused in more than 75 % by de novo mutations. It is clinically characterized by hamartomatous lesions, hypochromic spots on the skin, facial and uncal angiofibromas and frequently associated with alterations in the central nervous system. Objective: to describe the great clinical heterogeneity with which this disease occurred in a family. Methods: the clinical pattern method was used and was reviewed the updated literature. Informed consent was requested to take photos in order to compare them with similar cases and to consult with experts, as well as, to publish them in scientific journals.Clinical case: a nuclear family is presented. The female has hamartomatous lesions on the face and at the age of 30 years she was diagnosed with renal angiolipoma and the disease was suspected when her children were evaluated in consultation. A 7-year-old girl was born with hypochromic spots and began to have seizures at the age of 3, diagnosed as difficult-to-control epilepsy and a 2-year-old boy, with several large facial sebaceous adenomas, in addition to numerous hypochromic lesions; it was then that the clinical diagnosis of tuberous sclerosis was made in these patients. Conclusions: variable expressivity and clinical heterogeneity are considered to be phenomena that make the clinical diagnosis of this disease difficult, as have happened with this family, therefore, the clinical method is very useful to correctly delineate the phenotype and provide adequate genetic counseling.