Clinical findings in 67 patients with tuberous sclerosis

• Autor(a) principal: Fernández-Guarino, M
• Data de Publicação: 2009
• Outros Autores: Boixeda, P, Anaya, MJ, Beldar, P, Jaén, P
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
• Texto Completo: http://hdl.handle.net/10400.10/833
• topic: Tuberous sclerosis; Skin manifestations; Neurological manifestations

BACKGROUND: Tuberous sclerosis is an uncommon neurocutaneous syndrome characterized by the appearance of hamartomas in multiple organs. Diagnosis is based on clinical criteria. OBJECTIVE. To report the clinical findings in a series of 67 patients with tuberous sclerosis. MATERIAL AND METHODS: This was a descriptive and observational retrospective study of patients with tuberous sclerosis referred to our dermatology clinics between January 1994 and March 2007. RESULTS: All patients presented neurological or dermatological disorders. Other disorders, in descending frequency, were psychiatric (55.5%), renal (32.8%), cardiac (22.4%), skeletal and pulmonary (13.4%), and ophthalmological (11.9%). CONCLUSIONS: We report the clinical findings in a series of patients with tuberous sclerosis. According to our literature search, this is the first such study in the Spanish population. Overall, our findings support those already published