Various Skin Manifestations in Tuberous Sclerosis with Case Report | Chapter 2 | An Overview of Disease and Health Research Vol. 4

Tuberous sclerosis (TS) is an autosomal dominant neurocutaneous disorder characterised by a triad of epilepsy, mental retardation and adenoma sebaceum with multisystem involvement. The clinical presentation is associated with severe morbidity and potential mortality, making early diagnosis, lifelong surveillance, and appropriate management crucial. This study reports a case of a young male who presented with uncontrolled seizures following a symptom-free interval of nearly 15 years. This case of TS was presented for its uniqueness of having almost all known skin manifestations associated with TS. Clinical examination of the patient revealed the presence of adenoma sebaceum over the face. The patient also had shagreen patches over the umbilicus, ash-leaf hypomelanotic spots over the flank and subungual fibroma. The patient was treated and discharged with recommendations for regular follow-up. This case emphasises the importance of clinical criteria in the diagnosis of TS, as they provide a fast, inexpensive and universal standard in view of the absence of definitive diagnostic investigations.  While there is no definitive cure for TS, symptoms can be treated symptomatically. Hence, awareness regarding different skin manifestations and various organ involvement of TS is very important.

 

Author(s) Details

 

Hetal Pandya
Department of General Medicine, Dr. N. D. Desai Faculty of Medical Science & Research, Dharamsinh Desai University, Nadiad, Gujarat, India.

 

Daivat Pandya
GMERS Medical College, Gotri, Vadodara, Gujarat, India.

 

Please see the book here:- https://doi.org/10.9734/bpi/aodhr/v4/5774

Demographic, Clinical, and Radiographic Characteristics of Neurocutaneous Syndrome-Tuberous Sclerosis Complex | Chapter 18 | Issues and Development in Health Research Vol. 3

 Little is known about the prevalence, incidence, and features of tuberous sclerosis complex patients.

Tuberous sclerosis complex is a multisystem genetic disease. It's an autosomal disorder that affects several organs. Multiple hamartomas grow in a variety of organs, including the brain, kidneys, skin, uterus, and liver. Mutations in the TSC1 or TSC2 genes, which code for hamartin and tuberin, respectively, cause it. TSC is diagnosed utilising diagnostic criteria that are based on clinical and imaging data. Patients with TSC should be screened and monitored on a regular basis to establish the presence and extent of organ involvement, particularly in the brain, kidneys, and lungs, as well as the development of related problems. Because the treatment is organ-specific, imaging is critical in the care of TSC patients.

We present a 50-year-old woman with tuberous sclerosis complex who had facial angiofibromas, bilateral kidney angiomyolipomas, subependymal nodules, and a subependymal giant cell astrocytoma. The study's goal is to describe clinical and radiological findings in a patient with multiple hamartomas in various organ systems.

Author (S) Details

V. Nikam
Department of Anatomy, D.Y. Patil Medical College, India.

M. Shettennavar
S.M Diagnostic and Research Centre, India.

S. Babanagar
Department of Radiodiagnosis, D.Y. Patil Medical College, India.

View Book :- https://stm.bookpi.org/IDHR-V3/article/view/3312