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Year : 2020  |  Volume : 24  |  Issue : 1  |  Page : 5-12

Rothmund-Thomson syndrome: A review of clinical and molecular aspects

Department of Internal Medicine, Salmaniya Medical Complex, Manama, Bahrain

Correspondence Address:
Dr. Manahel Mahmood Alsabbagh
Building 293, Road 2904, Manama 329
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/jdds.jdds_34_19

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Introduction: Rothmund-Thomson syndrome (RTS) is a rare genodermatosis which manifests a wide array of symptoms affecting skin and skin appendages. The first two cases were reported in 1957. Purpose: To present a comprehensive clinical and molecular perspective of RTS. Methods: A clinical review of the reported cases. Results: A variety of nonspecific symptoms make it difficult to reach an early diagnosis and to provide an appropriate counseling. Conclusion: This review highlight the major clinical variations to help reach a prompt diagnosis and take appropriate preventative measures.

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