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

Abstract

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.

Keywords

• basal cell carcinoma
• fracture
• recq helicases
• squamous cell carcinoma