Loading...
Please wait, while we are loading the content...
Similar Documents
Síndrome de Werner associada a quadro esclerodermiforme: relato de caso e revisão da literatura
| Content Provider | Semantic Scholar |
|---|---|
| Author | Kayser, Cristiane Perazzio, Sandro Félix Machado, F. S. Andrade, Luiz Eduardo Coelho |
| Copyright Year | 2008 |
| Abstract | A sindrome de Werner e uma doenca autossomica recessiva rara associada a envelhecimento precoce, cujo quadro cutâneo deve ser distinguido daquele encontrado na esclerose sistemica (ES). Descrevemos aqui o caso de uma paciente de 39 anos de idade, portadora de sindrome de Werner, encaminhada ao nosso servico com hipotese diagnostica inicial de ES. A paciente apresentava varias manifestacoes associadas a sindrome de Werner, incluindo cabelos precocemente grisalhos, voz estridente, baixa estatura, alteracoes cutâneas esclerodermiformes, diabetes melito, catarata, hipogonadismo, hipotireoidismo e hiperlipidemia. Nao apresentava fenomeno de Raynaud, manifestacoes viscerais tipicas da ES, alteracoes capilaroscopicas periungueais ou auto-anticorpos. O diagnostico de sindrome de Werner, apesar de raro, deve ser lembrado no diagnostico diferencial de ES, principalmente na presenca de manifestacoes atipicas e na ausencia de alteracoes tipicas da ES. 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. |
| Starting Page | 125 |
| Ending Page | 130 |
| Page Count | 6 |
| File Format | PDF HTM / HTML |
| DOI | 10.1590/S0482-50042008000200013 |
| Volume Number | 48 |
| Alternate Webpage(s) | http://repositorio.unifesp.br/bitstream/handle/11600/4337/S0482-50042008000200013.pdf?isAllowed=y&sequence=1 |
| Alternate Webpage(s) | https://doi.org/10.1590/S0482-50042008000200013 |
| Language | English |
| Access Restriction | Open |
| Content Type | Text |
| Resource Type | Article |
