色素失調症の男児例

・X染色体優性遺伝性の疾患であり，通常致死 的とされる男児の色素失調症（incontinentia pigmenti：IP）を経験した．・皮疹は左大腿〜下腿にかけて限局しており，他臓器の合併はなく軽症型の症例だった．末梢血リンパ球の染色体は正常男性型であり体細胞モザイクの可能性を考えた．・皮疹は無治療で色素沈着となり，現在も経過観察中である． ・今回は自験例を含めた本邦の過去の報告をまとめ，文献的に考察した．（「症例のポイント」より）

A case of incontinentia pigmenti in a male infant

Kurita, Takayuki1）Ito, Takashi2）Imai, Shunsuke2）Yoshino, Haruka2）Mizukaki, Norio3）Ishiko, Akira2） 1）Division of Dermatology, Nissan Tamagawa Hospital 2）Department of Dermatology, Toho University Omori Medical Center 3）Perinatal Center, Toho University Omori Medical Center

Abstract A 8-day-old male infant presented with linear areas of vesicles and crusts over the left leg. A skin biopsy showed vesicle formation and apoptotic keratinocytes in the epidermis with dense eosinophilic infiltration, and a diagnosis of incontinentia pigmenti (IP) was made. IP is an X chromosome dominant disease and most cases are female. Male cases of IP are usually fatal and limited cases survive only when the mutation occurred as a somatic mosaicism. By summarizing the male IP cases reported in Japan, the male patients having unilateral skin lesion were revealed not to develop complications such as ophthalmological or dental disorders.