Abstract
Werner\'s syndrome (WS) is an extremely rare and autosomal recessive premature aging syndrome characterized by scleroderma-like skin changes, alopecia, leg ulcers, short stature, cataract, early atherosclerosis, osteoporosis, hypogonadism and increased susceptibility to malignancies and diabetes mellitus. It can be typically recognized at the third or fourth decades of life. Patients with WS usually die at the age of 40-50 years due to malignant tumors or atherosclerotic complications. Therefore, early recognition of WS is of great importance for genetic counseling and for the identification of malignant tumors, atherosclerosis, diabetes, or osteoporosis at an early stage, since they are the most important factors causing morbidity and mortality. In this article, growth retardation, premature aging, early cataract, the findings of hypergonadotropic hypogonadism syndrome was hospitalized and diagnosed with wermer 19-year-old male patient is presented.
References
- Yamamoto K, Imakiire A, Miyagawa N, et al. A report of two cases of Werner’s syndrome and review of the literature. J Orthop Surg 2003;11:224-233.
- Goto M. What can we learn from Werner syndrome? A biased view from a rheumatologist. Mod Rheumatol 2002;12:294- 299.
- Muftuoglu M, Oshima J, von Kobbe C, et al. The clinical characteristics of Werner syndrome: molecular and bio- chemical diagnosis. Hum Genet 2008;124:369-377.
- Leistritz DF, Hanson N, Martin GM, et al. Werner Syndrome Genereviews. Ulaşılabileceği adres: http://www.ncbi.nlm. nih.gov/bookshelf/br.fcgi?book=gene&part=werner.
- Shimamoto A, Sugimoto M, Furuichi Y, et al. Molecular bi- ology of Werner syndrome. Int J Clin Oncol 2004;9:288-98.
- Goto M. Hierarchical deterioration of body systems in Wer- ner’s syndrome: Implication for normal ageing. Mech Age- ing Dev 1997;98:239-254.
- Ozgenc A, Loeb LA. Werner syndrome, aging and cancer. Genome Dyn 2006;1:206-217.
- Bes C, Vardi S, Güven A, et al. Werner’s syndrome: a quite rare disease for differential diagnosis of scleroderma. Rheu- matol Int 2010;30:695-698.
- Ceyhan M, Mullaaziz D, Yıldırım M, et al. İnatçı bacak ülseri olan bir hastada gecikmiş tanı: Werner Sendromu. Turk J Dermatol 2010;4:101-106.
Abstract
Werner sendromu (WS) skleroderma benzeri deri değişiklikleri, alopesi, bacak ülserleri, kısa boy, katarakt, erken ateroskleroz, osteoporoz, hipogonadizm, diyabetes mellitus ve malignitelere yatkınlıkla karakterize otozomal resesif kalıtım gösteren ve oldukça nadir görülen erken yaşlanma sendromudur. Tipik olarak hayatın üçüncü veya dördüncü dekatında tanınabilmektedir. WS\'li hastalar genellikle aterosklerotik komplikasyonlar ve malign tümörler nedeni ile 40-50\'li yaşlarda kaybedilmektedir. Bundan dolayı, WS\'nin erken tanısı, önemli mortalite ve morbidite nedenleri olan maling tümörler, ateroskleroz, diyabet veya osteoporozun erken evrede tespit edilmesi için ve genetik danışmanlık açısından büyük önem taşımaktadır. Bu makalede, büyüme gelişme geriliği, erken yaşlanma, erken katarakt, hipergonadotropik hipogonadizm bulgularıyla kliniğimize yatırılan ve werner sendromu tanısı konulan 19 yaşındaki erkek olguyu sunduk.
Keywords
References
- Yamamoto K, Imakiire A, Miyagawa N, et al. A report of two cases of Werner’s syndrome and review of the literature. J Orthop Surg 2003;11:224-233.
- Goto M. What can we learn from Werner syndrome? A biased view from a rheumatologist. Mod Rheumatol 2002;12:294- 299.
- Muftuoglu M, Oshima J, von Kobbe C, et al. The clinical characteristics of Werner syndrome: molecular and bio- chemical diagnosis. Hum Genet 2008;124:369-377.
- Leistritz DF, Hanson N, Martin GM, et al. Werner Syndrome Genereviews. Ulaşılabileceği adres: http://www.ncbi.nlm. nih.gov/bookshelf/br.fcgi?book=gene&part=werner.
- Shimamoto A, Sugimoto M, Furuichi Y, et al. Molecular bi- ology of Werner syndrome. Int J Clin Oncol 2004;9:288-98.
- Goto M. Hierarchical deterioration of body systems in Wer- ner’s syndrome: Implication for normal ageing. Mech Age- ing Dev 1997;98:239-254.
- Ozgenc A, Loeb LA. Werner syndrome, aging and cancer. Genome Dyn 2006;1:206-217.
- Bes C, Vardi S, Güven A, et al. Werner’s syndrome: a quite rare disease for differential diagnosis of scleroderma. Rheu- matol Int 2010;30:695-698.
- Ceyhan M, Mullaaziz D, Yıldırım M, et al. İnatçı bacak ülseri olan bir hastada gecikmiş tanı: Werner Sendromu. Turk J Dermatol 2010;4:101-106.
Details
| Primary Language | Turkish |
|---|---|
| Journal Section | Case Reports |
| Authors | |
| Publication Date | June 1, 2013 |
| Submission Date | March 2, 2015 |
| Published in Issue | Year 2013 |