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2024, Number 1

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Dermatología Cosmética, Médica y Quirúrgica 2024; 22 (1)

Sclerosis tuberosa (Bourneville-Pringle disease): a review
Questionnaire

Morales-González VA, Serrano Gloria G, Lara-Guevara MR, Cortés-López PN, Arenas R

Language: Spanish
References: 37
Page: 57-65
PDF size: 271.79 Kb.


ABSTRACT

Tuberous sclerosis is a multisystem disorder caused by mutations in the tsc1 or tsc2 genes which affects the mtor signaling pathway. This disease is characterized by epilepsy, intellectual disability, and facial angiofibromas. The most affected organs are the skin, kidneys, lungs, heart, brain and eyes, in addition it can be accompanied by benign or malignant tumorigenesis and/or neurological alterations.
Patients are usually diagnosed during childhood, this disorder is confirmed by the presence of clinical signs and imaging, as well as the identification of genetic mutations.
The management requires a multidisciplinary approach due to the multi-organic involvement. Lifelong check-up is required for surveillance and finding of tumorigenesis in these patients.
The treatment is based on the use of mtor inhibitors, with this therapy it has been possible to stop, reduce and even achieve remission of multiple manifestations, including dermatological lesions or tumors. Refractory or function-limiting cases may require surgical treatment and in severe cases, organ transplant.


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