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
No comments:
Post a Comment