It is an inherited genetic disorder that affects the brain, peripheral nervous system, skin, heart, kidneys and lungs. It is due to a genetic mutation; if one of the parents has it, their offspring have a 50% chance of inheriting the disease.
Symptoms may appear at birth or after a few months: skin alterations in the form of white spots, red "patches" or "orange peel", developmental delay, intellectual disability, epileptic seizures, tuberosities in the brain, cavities in the dental enamel, sunken palate, small masses around the nails and/or small tumors in kidneys or lungs. Most tumors are benign, however, some brain or kidney tumors may become cancerous.
Diagnosis is clinical when symptoms are noted, and can be confirmed by brain or abdominal CT scan, brain MRI, kidney ultrasound or DNA testing.
Treatment should be individualized based on the symptoms suffered by each person (special education, drugs, laser, surgery, etc). Cases with mild manifestations have a good prognosis, unlike cases with disability and repeated seizures that will require lifelong care.
Genetic counseling is recommended for those who are looking for offspring and have a history of tuberous sclerosis. If you have a family history of this disease or notice any of the above symptoms in your child, consult a specialist.
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- R. Ruiz, J. B. Melguizo, M. C. Martín, R. Naranjo. Esclerosis tuberosa. Enfermedad de Pringle Bourneville. Actas Dermosifiliogr 2002;93(1):1-7
- MedlinePlus. Rockville. 2017. Esclerosis tuberosa; [citado el 12 de julio de 2017]. Disponible en: https://medlineplus.gov/spanish/ency/article/000787.htm
- UpToDate [Internet]. Waltham. 2017. Tuberous sclerosis complex: Genetics, clinical features, and diagnosis; [citado el 12 de julio de 2017]. Disponible en: http://www.uptodate.com/contents/tuberous-sclerosis-complex-genetics-clinical-features-and-diagnosis?source=search_result&search=esclerosis+tuberosa&selectedTitle=1~98
