Proceedings: Tuberous sclerosis (forme fruste) vs. Cowden syndrome

Recognition of Tuberous Sclerosis in Adult Women: Delayed Presentation With Life-Threatening Consequences

“…Imaging studies to reveal other manifestations were typically not done during childhood in this group of women, possibly because they did not have ongoing seizures or obvious intellectual disability. Some women eventually received a diagnosis of forme fruste TSC (35, 36) in the mistaken belief that they had a TSC variant that manifested as only skin lesions.…”

Síndrome de Cowden: relato de um caso

“…Os triquilemomas faciais e papilomas orais podem ser excisados com bisturi, 2, 21 eletrocirurgia, dermoabrasão ou nitrogênio líquido, 21 que traz mais beneficios ao paciente, porém todas as lesões removidas recorrem rapidamente. Aplicações tópicas de tretinoína têm pouco sucesso terapêutico.…”

“…Aplicações tópicas de tretinoína têm pouco sucesso terapêutico. 21 Da mesma forma que na pele, a experiência de plete form, due to variable degrees of penetration in the syndrome. Based on these aspects, Salem and Steck, 2,5,18 in 1983, proposed the following diagnostic criteria, divided into major and minor criteria, and family history.…”

“…Facial trichilemmomas and oral papillomas may be excised by means of laser, 2,21 electrosurgery, dermoabrasion or liquid nitrogen, 21 which is more beneficial for the patient. However all removed lesions recur quickly.…”

“…Topical applications of tritinoin have little therapeutic success. 21 Tabela 1: Critérios diagnósticos para a doença de Cowden * As with the skin, the experiment conducted by Gentry et al 3 demonstrated that excision of polyps, with fulguration of the base, does not eradicate the lesions. The sigmoidoscopic exam segment showed evidence in two cases of the recurrence of benign lesions at the same site as previous neoplasms.…”