TUBEROUS SCLEROSIS
CASE REPORT
Keywords:
tuberous sclerosis, hamartomaAbstract
Tilberous Sclerosis or Bourneville 's Disease is a rare systemic disease, which is characterized by the growth ofhamart0111as in many organs. It is an autossomal dominant illness, involving chromosomes 9 and 16, with variable expressiveness, presenting 60% to 75% rates of spontaneous mutation of the involved genes. The authors describe and discuss a clinical case that corresponds with the literature data, showing the main clinical findings and the diagnostic criteria currently used for Tuberous Sclerosis.
Downloads
References
Azulay RD, et al. Genodermatoses e disembrioplasias cutâneas. In: Dermatologia. 2.ed. Rio de Janeiro: GuanabaraKoogan; 1997. Capítulo 3 1, 1).394-98.
Berbert ALCV, et al. Esclerose tuberosa. An Bras Dermatol 1997;72(1):73-7.
Evans JC, et al. The radiological apperances of tuberous sclerosis. Br J Radiol 2000; 73: 91-8.
Freedberg IM, et al. Tuberous Sclerosis Complex. In: Dermatology in general Medicine. 5 th ed. New York: McGrawHi11; 1999. v.2:p.2148-151.
Gündüz KMD, et al. Invasive giant cell astrocytoma of the retina in a patient with tuberous sclerosis. Ophthalmology 1999; Hyman MH, et al. National Institutes of Health Consensus Conference: tuberous sclerosis complexe Arch Neurol 2000; 57:662-65.
Józwiak SMD, et al. Skin lesios in children with tuberous sclerosis complex: their prevalence, natural course, and diagnostic significance. Int J Dermatol 1998; 38:911-17
Pereira ALM. Esclerose tuberosa: relato de caso. An Bras Dermatol 1998;73(5):431-34
Robbins SL. Neoplasias. In: Patologia estrutural e funcional. 5.ed. Rio de Janeiro: Guanabara Koogan; 1996. Capítulo 3, p.215.
Uysal H, Hemming F W. Changes in the expression and distribution of fibronectin, laminin and tenascin by cultured fibroblasts from skin lesions of patients with tuberous sclerosis. Br J Dermatol 1999; 141: 658-66.
WeinerDM, et al. The tuberous sclerosis complex: a comprehensive review. J Am Coll Surg 1998; 187(5): 548-59.
William RGA, et al. Genetics and genodermatoses. In: Textbook of dermatology. 5 nd ed. London: Blackwell•, 1992. Capítulo 9, v. 1,p.327-30.
