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一名患有罗思蒙德-汤姆森综合征患者的多发性皮肤肿瘤:病例报告及已发表文献综述

Multiple cutaneous neoplasms in a patient with Rothmund-Thomson syndrome: case report and published work review.

作者信息

Stinco Giuseppe, Governatori Gianantonio, Mattighello Paolo, Patrone Pasquale

机构信息

Institute of Dermatology, Department of Clinical and Experimental Pathology and Medicine, University of Udine, Udine, Italy.

出版信息

J Dermatol. 2008 Mar;35(3):154-61. doi: 10.1111/j.1346-8138.2008.00436.x.

DOI:10.1111/j.1346-8138.2008.00436.x
PMID:18346259
Abstract

Rothmund-Thomson syndrome (RTS) is a rare genodermatosis characterized by early poikilodermatous skin lesions, often combined with juvenile cataracts, photosensitivity and bone defects. Data in the published work indicate that there is an increased risk of RTS patients developing malignant tumors. Herein, we report the multiple skin carcinomas observed in a case of RTS and review the published work on the occurrence of malignant tumors in these patients. We report the case of a 63-year-old male with RTS who developed multiple cutaneous neoplasms (three basal cell carcinomas, three squamous cell carcinomas and Bowen's disease) over the previous 15 years. A published work review confirmed that RTS is a genetic condition that predisposes subjects to the development of bone tumors, especially at an early age, and skin tumors at an adult age. Therefore, alongside careful osteoarticular monitoring to identify a bone tumor quickly, during the life of a patient suffering from the syndrome, it is just as important to take appropriate preventive action and monitor the possible onset of skin tumors.

摘要

罗思蒙德 - 汤姆森综合征(RTS)是一种罕见的遗传性皮肤病,其特征为早期出现皮肤异色病样皮肤损害,常伴有青少年白内障、光敏性和骨骼缺陷。已发表的研究数据表明,RTS患者发生恶性肿瘤的风险增加。在此,我们报告1例RTS患者出现的多发性皮肤癌,并回顾已发表的关于这些患者发生恶性肿瘤的研究。我们报告1例63岁患有RTS的男性患者,在过去15年中发生了多发性皮肤肿瘤(3例基底细胞癌、3例鳞状细胞癌和鲍温病)。一项已发表的研究综述证实,RTS是一种遗传性疾病,使患者易患骨肿瘤,尤其是在幼年时,以及在成年时易患皮肤肿瘤。因此,在患有该综合征的患者一生中,除了进行仔细的骨关节监测以快速识别骨肿瘤外,采取适当的预防措施并监测皮肤肿瘤的可能发生同样重要。

相似文献

1
Multiple cutaneous neoplasms in a patient with Rothmund-Thomson syndrome: case report and published work review.一名患有罗思蒙德-汤姆森综合征患者的多发性皮肤肿瘤:病例报告及已发表文献综述
J Dermatol. 2008 Mar;35(3):154-61. doi: 10.1111/j.1346-8138.2008.00436.x.
2
Rothmund-Thomson syndrome and osteosarcoma.罗思蒙德-汤姆森综合征与骨肉瘤
Med Pediatr Oncol. 1996 Jun;26(6):414-6. doi: 10.1002/(SICI)1096-911X(199606)26:6<414::AID-MPO8>3.0.CO;2-K.
3
[Congenital poikiloderma with verrucous hyperkeratosis. An unusual form of Thomson's syndrome?].[先天性皮肤异色症伴疣状角化过度。一种不寻常的汤姆森综合征形式?]
Hautarzt. 1988 Mar;39(3):143-8.
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Int J Pediatr Otorhinolaryngol. 2004 Apr;68(4):469-72. doi: 10.1016/j.ijporl.2003.10.005.
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Rothmund-Thomson syndrome.罗思蒙德-汤姆森综合征
Dermatol Clin. 1995 Jan;13(1):143-50.
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Therapy-related myelodysplasia in a patient with Rothmund-Thomson syndrome.罗特蒙德-汤姆森综合征患者相关治疗性骨髓增生异常。
Eur J Haematol. 2011 Jun;86(6):536-40. doi: 10.1111/j.1600-0609.2011.01609.x.
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An unusual patient with Rothmund-Thomson syndrome, porokeratosis and bilateral iris dysgenesis.
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Rothmund-thomson syndrome in three siblings and development of cutaneous squamous cell carcinoma.
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Clinicopathologic features of osteosarcoma in patients with Rothmund-Thomson syndrome.罗思蒙德-汤姆森综合征患者骨肉瘤的临床病理特征
J Clin Oncol. 2007 Feb 1;25(4):370-5. doi: 10.1200/JCO.2006.08.4558.
10
Variable presentation of Rothmund-Thomson syndrome.罗思蒙德-汤姆森综合征的可变表现。
Am J Med Genet. 2000 Nov 27;95(3):204-7.

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