횡문근육종의 골전이가 동반된 워너증후군 1례

• 영문명: A case of Werner Syndrome Complicated by Bone Metastasis of Rhabdomyosarcoma
• 발행기관: 대한의학유전학회
• 저자명: 송준환(Joon Hwan Song) 선동신(Dong Shin Sun) 김호(Ho Kim) 이윤희(Yoon Hee Lee) 홍용희(Yong Hee Hong) 이동환(Dong Hwan Lee)
• 간행물 정보: 『대한의학유전학회지』제6권 제1호, 91~94쪽, 전체 4쪽
• 주제분류: 의약학 > 기타의약학
• 파일형태: PDF
• 발행일자: 2009.06.30

국문 초록

저자들은 출생당시 특이소견 없었고, 유전질환의 가족력이 없는 20세 남자 환자에서 우측하지에 골전이가 동반된 횡문근육종을 발견하고, 저신장, 탈모, 백내장, 치열이상, 골다공증, 갑상선기능저하증, 작은 손과 발, 사지는 가늘고 체간이 두터우며, 신체에 비해 큰 머리등 특이한 외모를 가진 워너증후군으로 진단한 1례를 경험하였기에 문헌 고찰과 함께 보고하고자 한다.

영문 초록

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.

목차

서론

증례보고

고찰

국문초록

참고문헌

키워드

Werner syndrome Adult progeria Rhabdomyosarcoma