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
Department of Pediatric Medical Care, Gifu Prefectural General Medical Center, Gifu, Japan.
Department of Medicine, Division of Diabetes, Metabolism and Endocrinology, International University of Health and Welfare, Chiba, Japan.
Pediatr Int. 2022 Jan;64(1):e15120. doi: 10.1111/ped.15120.
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.
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.
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.
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.
罗思蒙德 - 汤姆森综合征（RTS）是一种常染色体隐性遗传病，其特征为面部皮肤异色症、身材矮小、头皮毛发稀疏、青少年白内障、桡骨发育不全以及易患癌症。由于RTS病例罕见，日本RTS患者的情况尚未阐明。
在2010年和2020年，根据初步问卷调查结果，在全国范围内开展了关于RTS的二次问卷调查，以调查日本RTS病例数量及其相关的皮肤病变、骨骼病变、其他临床特征和生活质量。
2010年和2020年分别招募到10例和8例RTS患者。几乎所有病例均观察到皮肤异色症、红斑、色素沉着和头皮毛发异常等皮肤病变。在2010年和2020年的调查中，分别有4例观察到骨骼病变。2020年的调查中有2例患者的RECQL4基因发生突变。
两项全国性调查显示了日本RTS患者的实际情况。皮肤和骨骼表现对RTS的诊断很重要。然而，许多患者没有RECQL4基因突变。RTS的新致病基因有待进一步阐明。
