Rothmund‐Thomson syndrome investigated by two nationwide surveys in Japan

• Published in: Pediatrics international Vol. 64; no. 1; pp. e15120 - n/a
• Main Authors: Kaneko, Hideo, Takemoto, Minoru, Murakami, Hiroaki, Ihara, Kenji, Kosaki, Rika, Motegi, Sei‐ichiro, Taniguchi, Akira, Matsuo, Muneaki, Yamazaki, Naoya, Nishigori, Chikako, Takita, Junko, Koshizaka, Masaya, Maezawa, Yoshiro, Yokote, Koutaro
• Format: Journal Article
• Language: English
• Published: Australia Blackwell Publishing Ltd 01.01.2022
• Subjects: Aplasia; Bone cancer; Bone lesions; Erythema; Genetic disorders; Hair; Hereditary diseases; Mutation; nationwide survey; osteosarcoma; Pediatrics; Pigmentation; poikiloderma; Quality of life; Questionnaires; RECQL4; Rothmund‐Thomson syndrome; Sarcoma; Scalp; Skin diseases; Skin lesions; Surveys; Japan; RECQL4; poikiloderma; Rothmund-Thomson syndrome; nationwide survey; osteosarcoma
• ISSN: 1328-8067; 1442-200X
• DOI: 10.1111/ped.15120

Background Rothmund‐Thomson syndrome (RTS) is an autosomal recessive genetic disorder characterized by poikiloderma of the face, small stature, sparse scalp hair, juvenile cataract, radial aplasia, and predisposition to cancers. Due to the rarity of RTS, the situation of patients with RTS in Japan has not been elucidated. Methods In 2010 and 2020, following the results of a primary questionnaire survey, a secondary questionnaire survey on RTS was conducted nationwide to investigate the number of RTS cases and their associated skin lesions, bone lesions, other clinical features, and quality of life in Japan. Results In 2010 and 2020, 10 and eight patients with RTS were recruited, respectively. Skin lesions such as poikiloderma, erythema, pigmentation, and abnormal scalp hair were observed in almost all cases. Bone lesions were observed in four cases in the 2010 and 2020 surveys, respectively. Two cases had mutations in the RECQL4 gene in the 2020 survey. Conclusions Two nationwide surveys have shown the actual situation of patients with RTS in Japan. Cutaneous and bone manifestations are important for the diagnosis of RTS. However, many patients have no RECQL4 mutations. The novel causative gene of RTS should be further elucidated.