日本新生児成育医学会雑誌　第30巻　第2号　72～76頁（2018年）

日本新生児成育医学会雑誌　30(2)：320-324；2018　

受付日：平成29．07．28

受理日：平成30．02．19

全身の鱗屑で入院し，単純X 線検査所見から診断に至ったChondrodysplasia punctata X-linked dominant type の1 例

A Case of X-Linked Dominant Type Chondrodysplasia Punctata Diagnosed Based on X-ray Imaging Performed during the Course of Hospitalization for Systemic Scales

一宮市立市民病院　小児科

Department of Pediatrics, Ichinomiya Municipal Hospital

中村泰久・森なつみ・渡辺翔太・中村早希・長屋嘉顕・佐橋　剛・三宅能成

Yasuhisa NAKAMURA，Natsumi MORI，Shota WATANABE，Saki NAKAMURA， Yoshiaki NAGAYA，Takeshi SAHASHI，Yoshishige MIYAKE

Key Words：chondrodysplasia punctata，congenital ichthyosis，cataracts，stripped carcification

　Chondrodysplasia punctata X-linked dominant type（CDPX2）は単純X 線写真における骨端軟骨の点状石灰化像や皮膚症状を特徴とする稀な疾患である。今回我々は全身の皮膚病変の精査目的で入院となり，単純X 線検査からCDPX2 の診断に至った1 例を経験した。症例は日齢1 の女児。出生時より全身に鱗屑を認め当院入院となった。ルーチン検査であった胸腹部単純X 線検査で胸腰椎体周囲に点状石灰化を認めた。四肢の非対称な短縮は認めなかったが，両側非対称性白内障を認めた。遺伝子解析ではEBP 遺伝子にミスセンス変異を認めた。出生時より鱗屑を認める疾患は多く，骨系統疾患や代謝性疾患も含まれている。鑑別を進める上で単純X 線検査や眼科診察は重要である。

　Chondrodysplasia punctata X-linked dominant type（ CDPX2） is a rare disease, and is characterized by stippled calcifications of the epiphyseal cartilage, which appear on X-rays, or present as cutaneous symptoms. We observed a case in which the patient was hospitalized for close examinations of systemic cutaneous lesions, and was diagnosed with CDPX2 based on X-ray imaging. The patient was a 1-day-old girl. The patient presented with scales on her entire body from birth and was admitted to our NICU. Chest and abdominal X-rays were performed as routine tests revealed stippled calcifications on the thoracolumbar spine. Although asymmetric short limbs were not observed, bilateral asymmetric cataracts were seen. In the genetic analysis, a missense mutation was identified in the EBP gene. Various diseases can present with cutaneous scales at birth, including bone lineage diseases and several metabolic diseases. It is important to perform X-ray imaging and ophthalmologic examinations to differentiate between the diseases.