title: Analysis of twenty pediatric cases of tuberous sclerosis complex: are we doing enough?
abstract: BACKGROUND
  Tuberous sclerosis complex (TSC) is a neuro-cutaneous disease characterized by hamartoma formation in various organs particularly the skin, brain, eye, kidney, heart and lungs. Patients usually have multisystem involvement and thus present to different medical specialties with varied complaints while the true nature of the disease and the hidden manifestations may remain unattended.
  
  
  OBJECTIVE
  To assess the frequency and characteristics of various cutaneous and systemic manifestations in TSC and the total impact on different system in a cohort of pediatric patients.
  
  
  METHODS
  The study included 20 patients fulfilling the diagnostic criteria for TSC from dermatology, pediatrics, and neurology department. Detailed history, examination, and investigations such as chest X-ray, electrocardiography (ECG), ultrasonography (USG) abdomen, echocardiography, fundoscopy, computed tomography (CT) scan of brain and abdomen were done.
  
  
  RESULTS
  Dermatological manifestations included ash leaf macules, angiofibromas, shagreen patch, and fibrous plaque. Systemic findings observed were subependymal calcified nodules, subependymal giant cell astrocytoma, cortical tubers, renal cysts, angiomyolipomas, lung cyst, retinal hamartomas, mental deficits and epilepsy.
  
  
  CONCLUSIONS
  Wechsler's Intelligence Scale for Children would have been more appropriate for assessing the intelligence. Dental check-up was not done in our group of patients.
  
  
  CONCLUSIONS
  Our study highlights the wide variety of cutaneous and systemic manifestations of TSC. The study emphasizes the need for comprehensive multidisciplinary treatment and periodic follow-up which are necessary for appropriate management of this multisystem disorder. Counseling regarding education and rehabilitation of the patients and genetic counseling of parents are important.
authors.affiliation: Department of Dermatology and Venereology, Gauhati Medical College and Hospital, Guwahati, Assam, India.
authors.forename: Jyoti
authors.initials: J
authors.lastname: Nath
authors.forename: Abhishek
authors.initials: A
authors.lastname: Dubey
authors.forename: Raj
authors.initials: R
authors.lastname: Pavan
mesh_terms: D000293:Adolescent; D018322:Angiofibroma / Q000209:etiology*; D001254:Astrocytoma / Q000209:etiology*; D001927:Brain Diseases / Q000209:etiology*; D002114:Calcinosis / Q000209:etiology*; D002648:Child; D002675:Child, Preschool; D003560:Cysts / Q000209:etiology; D004827:Epilepsy / Q000209:etiology; D005260:Female; D005350:Fibroma / Q000209:etiology*; D006801:Humans; D007674:Kidney Diseases / Q000209:etiology; D008171:Lung Diseases / Q000209:etiology; D008297:Male; D009369:Neoplasms / Q000209:etiology*; D012535:Scalp; D012871:Skin Diseases / Q000209:etiology*; D014402:Tuberous Sclerosis / Q000150:complications*