Tuberous Sclerosis Complex : A Case Report
DOI:
https://doi.org/10.22219/sm.Vol15.SMUMM2.9935Keywords:
tuberous sclerosis complex, hemangioma, mental retardation, epilepsyAbstract
Tuberous Sclerosis Complex (TSC) is an autosomal dominant inherited neurocutaneous disorder. Tuberous Sclerosis Complex is caused by mutations in tumor suppressor gene (TSC), both TSC1 and TSC2. In approximately two-thirds of cases neither parent has signs of TSC and the disease is caused by a de novo mutation. Tuberous Sclerosis Complex is classically identified by the Vort's triad in the presence of angiofibroma, mental retardation, and epilepsy. A 17-year-old woman with a major complaint of a facial bump that appeared at birth and got bigger when she reached puberty. There are white patches on the patient's body from birth. On the scalp obtained the presence of skin color plaque, while at the back and right knee obtained shagreen patch. Patientwas diagnosed with epilepsy and mental retardation by the pediatric department. No family history has the same complaints as patient. Histopathologic examination of facial bumps taken by shaving biopsy suggests the presence of hemangiomas. Based on the clinical diagnostic criteria from International Tuberous Sclerosis Complex Consensus Conference 2012, the patient meets two major criteria, macular hypopigmentation and shagreen patch so it is included in "definite diagnosis".
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Borkowska, J., Schwartz, R. A., Kotulska, K., &Jozwiak, S. (2011). Tuberous sclerosis complex: tumors and tumorigenesis. International journal of dermatology, 50(1), 13-20.
Darling,T. N. Tuberous Sclerosis Complex. Goldsmith, LA et al (ed). (2012) In Fitzpatrick’s Dermatology in General Medicine. New York : Mc Graw Hill.
Kwiatkowski, D. J., & Manning, B. D. (2005). Tuberous sclerosis: a GAP at the crossroads of multiple signaling pathways. Human molecular genetics, 14(suppl_2), R251-R258.
Martelli, H., Lima, L. S., Bonan, P. R. F., & Coletta, R. D. (2010). Oral manifestations leading to the diagnosis of familial tuberous sclerosis. Indian Journal of Dental Research, 21(1), 138.
Modéer, T., Domeij, H., Anduren, I., Mustafa, M., &Brunius, G. (2000). Effect of phenytoin on the production of interleukin‐6 and interleukin‐8 in human gingival fibroblasts. Journal of oral pathology & medicine, 29(10), 491-499.
Northrup, H., Krueger, D. A., Roberds, S., Smith, K., Sampson, J., Korf, B., ... & de Vries, P. (2013). Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatric neurology, 49(4), 243-254.
Rodrigues, D. A., Gomes, C. M., & Costa, I. M. C. (2012). Tuberous sclerosis complex. Anais brasileiros de dermatologia, 87(2), 184-196.
Samir, H., Ghaffar, H. A., & Nasr, M. (2011). Seizures and intellectual outcome: clinico-radiological study of 30 Egyptian cases of tuberous sclerosis complex. european journal of paediatric neurology, 15(2), 131-137.
Sancak, O., Nellist, M., Goedbloed, M., Elfferich, P., Wouters, C., Maat-Kievit, A., ... & van den Ouweland, A. (2005). Mutational analysis of the TSC1 and TSC2 genes in a diagnostic setting: genotype–phenotype correlations and comparison of diagnostic DNA techniques in tuberous sclerosis complex. European Journal of Human Genetics, 13(6), 731.
Staley, B. A., Vail, E. A., & Thiele, E. A. (2011). Tuberous sclerosis complex: diagnostic challenges, presenting symptoms, and commonly missed signs. Pediatrics, 127(1), e117-e125.
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