異所性石灰化を契機に診断したWerner症候群

・Werner症候群（Werner syndrome：WS）は，思春期以降の早期に皮膚萎縮や硬化，白髪や禿頭，白内障や代謝異常症などの老化症状が出現する遺伝性疾患である．

・臀部の異所性石灰化の治療を目的に受診したが，全身の診察を行い，WSと診断した．

・自験例は比較的若年で診断しており，日常生活への注意点と，定期通院の重要性について早期から説明できた．

（「症例のポイント」より）

　

A case of Werner syndrome with an ectopic calcification

　

Saito, Shintaro1）Tamura, Masaaki2）Ezaki, Ryo3）Kato, Tatsuya4） 1）Department of Dermatology, Gunma University Graduate School of Medicine 2）Division of Dermatology, Sano Kosei General Hospital 3）Division of Dermatology, Department of Internal Related, Kobe University Graduate School of Medicine 4）Department of Plastic and Reconstructive Surgery, Keio University School of Medicine

　

A 23-year-old woman, who presented with calcified nodule on her right buttock and aging skin symptoms, such as skin atrophy, grey thin hair and multiple tyloses of the soles．Her face was bird-like. She had metabolic disorders from her childhood. Histopathological examination of the nodule revealed an ectopic calcification. A genetic test showed homozygous mutation of WRN.