Journal of Diagnostics Concepts & Practice >

2026 , Vol. 25 >Issue 04: 500 - 505

DOI: https://doi.org/10.16150/j.1671-2870.2026.04.014

Case reports

Multidisciplinary diagnosis and treatment analysis of a case of tuberous sclerosis complex caused by a TSC2 gene variant

  • WU Mingming ,
  • WANG Gang ,
  • WEN Yaqi ,
  • CHEN Xiaoying
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  • 1 Department of Dermatology, Shanxi Traditional Chinese Medical Hospital, Shanxi Taiyuan 030012, China
    2 Department of Dermatology, Affiliated Hospital of Qinghai University, Qinghai Xining 810000, China
    3 Department of Dermatology, Affiliated Hospital of Shanxi University of Chinese Medicine, Shanxi Taiyuan 030024, China
    4 Department of Dermatology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China

Received date: 2025-03-03

  Revised date: 2025-05-21

  Accepted date: 2025-06-09

  Online published: 2026-08-31

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Abstract

This article reports a case of tuberous sclerosis (TSC) caused by a TSC2 gene variant. A 26-year-old male patient presented with widespread papules, nodules, and masses all over the body for over 20 years. The patient had a history of epileptic seizures at the age of 2. Dermatological examination showed densely distributed papules, nodules, and masses of varying sizes on the neck, face, chest, and back. Histopathological examination of the skin lesions showed mild papillomatoid hyperplasia of the epidermis, hyperkeratosis, and a small number of lymphocytes around the dermal blood vessels. Imaging studies indicated nodular and mass-like abnormal signals in the brain, lungs, and kidneys. Genetic testing revealed a decreased signal in exon 17 of the TSC2 gene, suggesting the presence of a pathogenic heterozygous deletion variant at this locus. Based on the above characteristics, the patient was diagnosed with tuberous sclerosis complex. After discussion by the multidisciplinary team (MDT), coordinated multidisciplinary treatment and management were provided. The dermatology department performed laser therapy, and the plastic surgery department conducted surgical treatment. The departments of urology, oncology, and neurosurgery provided pharmacological treatment. The treatment process proceeded smoothly. After discharge, the patient continued to be followed up at the outpatient clinic. As of January 2025, the patient had been followed up for one year and remained clinically stable. A review of the China National Knowledge Infrastructure, Wanfang Data, PubMed, and Embase databases identified 19 patients with tuberous sclerosis who had undergone multidisciplinary diagnosis and treatment. Including the patient reported in this article, a total of 20 cases were identified, and all patients had involvement of two or more organs. In the future, multidisciplinary collaboration in the lifelong disease management of patients with TSC will be crucial for improving the diagnosis and treatment of TSC and patient prognosis, and represents a trend in the treatment of this disease.

Key words： Tuberous sclerosis complex; Gene mutation; Multidisciplinary

Cite this article

WU Mingming , WANG Gang , WEN Yaqi , CHEN Xiaoying . Multidisciplinary diagnosis and treatment analysis of a case of tuberous sclerosis complex caused by a TSC2 gene variant[J]. Journal of Diagnostics Concepts & Practice, 2026 , 25(04) : 500 -505 . DOI: 10.16150/j.1671-2870.2026.04.014

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