The tuberous sclerosis complex, review and case presentation
Keywords:
tuberous sclerosis, EPILOIA, hamartoma, angiolipomaAbstract
Tuberous sclerosis was first described in 1880 and corresponds to an autosomic dominant disorder, where the mutation has been identified two genes responsible for disease. It triggers a systemic disease characterized by seizures and skin manifestations, as well as kidney, lung, and heart involvement. The central nervous system involvement causes high morbidity in affected patients, usually in the presence of cortical tubers, and the medium-term development of cognitive abilities depends on the early management of them. Clinical diagnosis is made using major and minor established criteria, in addition to imaging and molecular studies to identify TSC1 and TSC2 mutations. Surgical management of lesions improves the clinical course and appearance of the patient
Author Biographies
Vanessa Torres
Médica, residente II año dermatología, Facultad de Salud, Universidad Autónoma de Bucaramanga, Bucaramanga, Colombia
Gustavo Adolfo Contreras
Médico, especialista en Genética, Facultad de Salud, Universidad Autónoma de Bucaramanga, Bucaramanga, Colombia
Norma Serrano
Médica, MSc., especialista en Genética, Facultad de Salud, Universidad Autónoma de Bucaramanga, Bucaramanga, Colombia
María Carolina Páez
Médica, MSc., Facultad de Salud, Universidad Autónoma de Bucaramanga, Bucaramanga, Colombia
María Claudia Guzmán
Médica, residente II año dermatología, Facultad de Salud, Universidad Autónoma de Bucaramanga, Bucaramanga, Colombia
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