10代の姉弟にみられた基底細胞母斑症候群（Gorlin症候群）

・基底細胞母斑症候群（basal cell nevus syndrome：BCNS）に特徴的な症状を認めた10代の姉弟例を経験した． ・姉の顔面の褐色丘疹は臨床ならびに病理組織像から基底細胞母斑と診断した． ・基底細胞母斑症候群では手掌・足底の小陥凹が小児期から出現する皮膚症状として診断価値が高い． （「症例のポイント」より）

Sibling cases of basal cell nevus syndrome (Gorlin syndrome) in early teenagers

Yusa, Shino1）Kikuchi, Katsuko1）Okada, Shuko1）Fukuoki, Naomi2）Aiba, Setsuya1） 1）Department of Dermatology, Tohoku University Graduate School of Medicine 2）Department of Pediatrics, Tohoku University Graduate School of Medicine

Abstract A 14-year-old girl was diagnosed with keratocystic odontogenic tumors (KOT) in department of dentistry of our hospital. Clinical examination revealed multiple brownish papules on the upper and lower eyelids of her right eye, and multiple palmer and planter pits were observed. Histopathological examination of the specimen obtained from a facial pigmented papule revealed basaloid tumor cells without cellular and nuclear atypia, and we diagnosed those as basal cell nevus. Her younger brother had a history of megacephaly and KOT. We diagnosed them as basal cell nevus syndrome (BCNS) based on their various symptoms characteristic of BCNS.