횡문근육종의 골전이가 동반된 워너증후군 1례
- Alternative Title
- A case of Werner Syndrome Complicated by Bone Metastasis of Rhabdomyosarcoma
- Abstract
- Werner syndrome (WRN), or adult progeria, is a very rare, autosomal recessive disorder characterized by the appearance of accelerated aging, including cataracts, gray hair, skin atrophy, and atherosclerosis. This syndrome is caused by mutations in the WRN gene and had a high risk of a spectrum of rare neoplasms including: i) non-epithelial malignant or pre-malignant tumors/conditions, osteosarcomas and soft tissue sarcomas, malignant melanomas, myeloid leukemia and myelodysplastic syndrome; ii) an epithelial neoplasm, thyroid carcinoma, and iii) meningiomas. Recently, authors experienced a case of Werner syndrome complicated by bone metastasis of rhabdomyosarcoma in a 20-year old Korean man. The patient revealed a painful mass on his right knee and progeroid features, short stature, scalp alopecia, abnormal dentition, craniofacial disproportion, hypothyroidsm, cataracts and osteoporosis. The onset of symptoms of Werner syndrome generally precedes any later symptoms of associated conditions, such as malignant tumor. Therefore, early recognition of Werner syndrome is important to assist identification of malignant tumors at an early stage in this patient group.
- All Author(s)
- 송준환
; 선동신
; 김호
; 이윤희
; 홍용희
; 이동환
- Issued Date
- 2009
- Type
- Article
- Keyword
- Werner syndrome; Adult progeria; Rhabdomyosarcoma
- Publisher
- 대한의학유전학회
- ISSN
- 1226-1769
; 2233-9108
- Citation Title
- Journal of Genetic Medicine
- Citation Volume
- 6
- Citation Number
- 1
- Citation Start Page
- 91
- Citation End Page
- 94
- Language(ISO)
- kor
- URI
- http://schca-ir.schmc.ac.kr/handle/2022.oak/609
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