{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T19:45:28Z","timestamp":1790711128053,"version":"4.1.0"},"reference-count":12,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2022,5,26]],"date-time":"2022-05-26T00:00:00Z","timestamp":1653523200000},"content-version":"vor","delay-in-days":145,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatrics International"],"published-print":{"date-parts":[[2022,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Rothmund\u2010Thomson 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.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>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.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>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 <jats:italic>RECQL4<\/jats:italic> gene in the 2020 survey.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>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 <jats:italic>RECQL4<\/jats:italic> mutations. The novel causative gene of RTS should be further elucidated.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ped.15120","type":"journal-article","created":{"date-parts":[[2022,1,8]],"date-time":"2022-01-08T18:54:04Z","timestamp":1641668044000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Rothmund\u2010Thomson syndrome investigated by two nationwide surveys in Japan"],"prefix":"10.1111","volume":"64","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9269-8017","authenticated-orcid":false,"given":"Hideo","family":"Kaneko","sequence":"first","affiliation":[{"name":"Department of Pediatric Medical Care Gifu Prefectural General Medical Center  Gifu Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Minoru","family":"Takemoto","sequence":"additional","affiliation":[{"name":"Department of Medicine Division of Diabetes, Metabolism and Endocrinology International University of Health and Welfare  Chiba Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hiroaki","family":"Murakami","sequence":"additional","affiliation":[{"name":"Department of Pediatric Medical Care Gifu Prefectural General Medical Center  Gifu Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8831-1991","authenticated-orcid":false,"given":"Kenji","family":"Ihara","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Faculty of Medicine Oita University  Oita Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rika","family":"Kosaki","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics National Center for Child Health and Development  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sei\u2010ichiro","family":"Motegi","sequence":"additional","affiliation":[{"name":"Department of Dermatology Gunma University Graduate School of Medicine  Gunma Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Akira","family":"Taniguchi","sequence":"additional","affiliation":[{"name":"Department of Orthopaedic Surgery Nara Medical University  Nara Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8667-836X","authenticated-orcid":false,"given":"Muneaki","family":"Matsuo","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Faculty of Medicine Saga University  Saga Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naoya","family":"Yamazaki","sequence":"additional","affiliation":[{"name":"Department of Dermatologic Oncology National Cancer Center Hospital  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chikako","family":"Nishigori","sequence":"additional","affiliation":[{"name":"Division of Dermatology Kobe University Graduate School of Medicine  Kobe 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