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ISSN 1029-3035 (Electronic)

2011, Number 2

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Mediciego 2011; 17 (2)

Tuberous sclerosis. A case report.

González LM, Duarte VA, Perdomo RO

Language: Spanish
References: 12
Page:
PDF size: 70.27 Kb.


ABSTRACT

The Tuberous Sclerosis is an autosomal dominant disease that appears as a result of hyperplasia genetically programmed from ectodermic and mesodermic cells, It takes the form of various skin lesions, CNS (hamartomas), heart, kidney and other organs.It reports a case of 53-year-old, black, female, with a history of suffering epilepsy for which no no carried out a stable treatment and she suffers ungual fibroids in hands and feet about 20 years ago, that´s why she attended our practice. Physical examination found a cutaneous picture spread in head, neck, trunk, upper and lower, given by hypomelanotic macules, confetti small in 1 to 2 mm, papulonodular lesions on the face (sebaceous adenomas). Multiple localized plaques in back, abdomen and buttock skin giving the appearance of Tafilet leather or shagreen or "peau de chagrin" in French, as described in the literature (hemartomas tissue). Ungual fibroids on fingers and toes of variable size, histopathological changes characteristic of the disease. It also found alterations in CAT and renal disorders that influence the quality of life of this patient.


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