過敏性腸症候群を合併したnail-patella症候群

・特徴的な爪症状を契機にnail-patella症候群の診断に至った．

・10歳ころより認めていた消化器症状がnail-patella症候群の症状である可能性が示唆された．

・遺伝子検査にてLMX1B遺伝子に新規スプライスサイト変異c.257＋4_＋7delinsGTが検出された．

・患者皮膚でのLMX1B mRNA発現量が，正常皮膚の約40％に減少していた．

（「症例のポイント」より）

　

Nail-patella syndrome with irritable bowel syndrome

　

Furukawa, Fumina1）Makino, Teruhiko1）Mizawa, Megumi1）Kita, Keiichiro2）Gejo, Ryuichi3）Shimizu, Tadamichi1） 1）Department of Dermatology, Graduate School of Medicine, University of Toyama 2）Department of General Medicine, Toyama University Hospital 3）Department of Orthopedic surgery, Graduate School of Medicine, University of Toyama

　

A 17-year-old girl presented to our hospital for the evaluation of nail deformity and irritable bowel syndrome. A physical examination revealed hypoplasia, triangular lunulae, and splitting of the nails on both hands. Plain radiography demonstrated bilateral small patellae and iliac horns. These findings were diagnostic for nail-patella syndrome. Furthermore, we hypothesized that the irritable bowel syndrome observed in the patient may have been a clinical finding of nail-patella syndrome because the disease onset in this case was much earlier than that in typical cases. The patient is being carefully observed.