Clinical manifestations and management of tuberous sclerosis

Authors

  • Alison Dennise Santamaria Enríquez Universidad Regional Autónoma de Los Andes (UNIANDES). Ambato, Ecuador
  • Giuliana Nicole Lara-Flores Universidad Regional Autónoma de Los Andes (UNIANDES). Ambato, Ecuador. https://orcid.org/0009-0004-0860-4949
  • Carlos Alberto Pérez-Padilla Universidad Regional Autónoma de Los Andes (UNIANDES). Ambato, Ecuador.
  • Zaihrys del Carmen Herrera-Lazo Universidad Regional Autónoma de Los Andes (UNIANDES). Ambato, Ecuador. https://orcid.org/0000-0002-8015-0724

Keywords:

ESCLEROSIS TUBEROSA; MANIFESTACIONES CUTÁNEAS; MANIFESTACIONES NEUROLÓGICAS; MANIFESTACIONES OCULARES; SIGNOS Y SÍNTOMAS., TUBEROUS SCLEROSIS; SKIN MANIFESTATIONS; NEUROLOGIC MANIFESTATIONS; EYE MANIFESTATIONS; SIGNS AND SYMPTOMS., ESCLEROSE TUBEROSA; MANIFESTAÇÕES CUTÂNEAS; MANIFESTAÇÕES NEUROLÓGICAS; MANIFESTAÇÕES OCULARES; SINAIS E SINTOMAS

Abstract

Introduction: tuberous sclerosis is an autosomal dominant genetic disorder that causes multisystemic benign tumors, with neurological, renal, ocular, and cutaneous involvement.

Objective: to describe the clinical manifestations and multidisciplinary management of a case of tuberous sclerosis in an adolescent.

Case presentation: a 15-year-old male patient of mestizo origin from Ambato, with a family history of similar cutaneous lesions, was evaluated. Physical examination revealed facial angiofibromas, shagreen patches, periungual fibroma, and hyperpigmented macules. Ophthalmologic assessment showed bilateral hamartomas in the papilomacular area with altered vascular pattern and decreased visual acuity in the right eye. Complementary studies demonstrated renal cysts and a left renal nodule classified as bosniak III. Consultations were carried out with dermatology, pediatrics, and ophthalmology, in addition to abdominal ultrasound, brain magnetic resonance imaging, and chest radiography. Management focused on multidisciplinary follow-up and periodic monitoring of clinical manifestations.

Conclusions: this case highlights the need for a comprehensive approach to tuberous sclerosis, where early identification of cutaneous and ocular lesions allows prevention of complications. Multidisciplinary follow-up is essential to preserve quality of life and functionality.

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References

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Published

2025-12-23

How to Cite

1.
Santamaria Enríquez AD, Lara-Flores GN, Pérez-Padilla CA, Herrera-Lazo Z del C. Clinical manifestations and management of tuberous sclerosis. Rev Ciencias Médicas [Internet]. 2025 Dec. 23 [cited 2026 Jan. 3];29(1):e6983. Available from: https://revcmpinar.sld.cu/index.php/publicaciones/article/view/6983

Issue

Vol. 29 No. 1 (2025): Suplemento 1

Section

CASE REPORTS

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Copyright (c) 2025 Alison Dennise Santamaria Enríquez

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