Síndrome de Werner associada a quadro esclerodermiforme: relato de caso e revisão da literatura

• Autor(a) principal: Kayser, Cristiane [UNIFESP]
• Data de Publicação: 2008
• Outros Autores: Perazzio, Sandro F. [UNIFESP], Machado, Flávia S., Andrade, Luiz Eduardo Coelho [UNIFESP]
• Tipo de documento: Artigo
• Idioma: por
• Título da fonte: Repositório Institucional da UNIFESP
• Texto Completo: http://dx.doi.org/10.1590/S0482-50042008000200013; http://repositorio.unifesp.br/handle/11600/4337
• topic: systemic sclerosis; werner syndrome; progeroid syndromes; scleroderma; síndrome de Werner; esclerose sistêmica; síndromes progeróides; escleroderma

Werner's syndrome is a rare autosomal recessive disease associated with premature ageing. Skin alteration must be distinguished from cutaneous manifestation of systemic sclerosis (SSc). We describe a case of a 39 years old patient with Werner's syndrome admitted with an initial diagnostic hypothesis of SSc. The patient had many characteristic features associated with Werner's syndrome including gray hair, hoarseness, short stature, scleroderma-like skin changes, diabetes mellitus, cataracts, hypogonadism, hypothyroidism, and hyperlipidemia. There was no Raynaud's phenomenon, other typical visceral manifestation of SSc, nailfold capillary alterations or autoantibodies. Werner's syndrome diagnosis notwithstanding rare, should be remember in the differential diagnosis of SSc, mainly in the presence of atypical manifestations and in the absence of typical features of SSc.