Do you know this syndrome? Werner syndrome
Abstract: Werner syndrome is a rare autosomal recessive disorder, caused by mutations in the WRN gene. Clinical findings include: senile appearance, short stature, grey hair, alopecia, bird-like face, scleroderma-like skin changes, skin ulcers, voice abnormalities, cataracts, osteoporosis, type 2 di...
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| Format: | Article |
| Language: | English |
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Sociedade Brasileira de Dermatologia
2017-03-01
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| Series: | Anais Brasileiros de Dermatologia |
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| Online Access: | http://www.scielo.br/pdf/abd/v92n2/0365-0596-abd-92-02-0271.pdf |
| _version_ | 1819003191903125504 |
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| author | Özlem Bilgiç |
| author_facet | Özlem Bilgiç |
| author_sort | Özlem Bilgiç |
| collection | DOAJ |
| description | Abstract: Werner syndrome is a rare autosomal recessive disorder, caused by mutations in the WRN gene. Clinical findings include: senile appearance, short stature, grey hair, alopecia, bird-like face, scleroderma-like skin changes, skin ulcers, voice abnormalities, cataracts, osteoporosis, type 2 diabetes mellitus, ischemic heart disease and hypogonadism. The syndrome begins to become apparent in adolescence but it is usually diagnosed in the third or fourth decade of life. Since the patients usually die by the age of 40-50 years related to malignant neoplasms or atherosclerotic complications, they should be closely followed and treated for complications |
| first_indexed | 2024-12-20T23:17:05Z |
| format | Article |
| id | doaj.art-a87e0a93823043fd874eb1a5f8637792 |
| institution | Directory Open Access Journal |
| issn | 0365-0596 |
| language | English |
| last_indexed | 2024-12-20T23:17:05Z |
| publishDate | 2017-03-01 |
| publisher | Sociedade Brasileira de Dermatologia |
| record_format | Article |
| series | Anais Brasileiros de Dermatologia |
| spelling | doaj.art-a87e0a93823043fd874eb1a5f86377922022-12-21T19:23:37ZengSociedade Brasileira de DermatologiaAnais Brasileiros de Dermatologia0365-05962017-03-0192227127210.1590/abd1806-4841.20174640Do you know this syndrome? Werner syndromeÖzlem BilgiçAbstract: Werner syndrome is a rare autosomal recessive disorder, caused by mutations in the WRN gene. Clinical findings include: senile appearance, short stature, grey hair, alopecia, bird-like face, scleroderma-like skin changes, skin ulcers, voice abnormalities, cataracts, osteoporosis, type 2 diabetes mellitus, ischemic heart disease and hypogonadism. The syndrome begins to become apparent in adolescence but it is usually diagnosed in the third or fourth decade of life. Since the patients usually die by the age of 40-50 years related to malignant neoplasms or atherosclerotic complications, they should be closely followed and treated for complicationshttp://www.scielo.br/pdf/abd/v92n2/0365-0596-abd-92-02-0271.pdfLeg ulcerProgeriaScleroderma, localizedWerner syndrome |
| spellingShingle | Özlem Bilgiç Do you know this syndrome? Werner syndrome Anais Brasileiros de Dermatologia Leg ulcer Progeria Scleroderma, localized Werner syndrome |
| title | Do you know this syndrome? Werner syndrome |
| title_full | Do you know this syndrome? Werner syndrome |
| title_fullStr | Do you know this syndrome? Werner syndrome |
| title_full_unstemmed | Do you know this syndrome? Werner syndrome |
| title_short | Do you know this syndrome? Werner syndrome |
| title_sort | do you know this syndrome werner syndrome |
| topic | Leg ulcer Progeria Scleroderma, localized Werner syndrome |
| url | http://www.scielo.br/pdf/abd/v92n2/0365-0596-abd-92-02-0271.pdf |
| work_keys_str_mv | AT ozlembilgic doyouknowthissyndromewernersyndrome |