家族性に発生した基底細胞母斑症候群の3症例

Abstract

In this paper, 3 cases with manifestations of basal cell nevus syndrome in one Japanese Family are described. In the cases of an 8-year-old female, a 12-year-old female and a 40-year old male, idential symptoms such as multiple odontogenic jaw (kerato) cyst, ocular hypertelorisms, a broadnasal root, frontal and temporoparietal bossing, and palmarplanter pits were presented. On the other hand, symptoms such as mandibular prognathism, bifid ribs, intracranial calcification in the falx, shizophrenia, bridging of sella turcica, kyphoscoliosis, and squint, were not necessarilly presented in all cases. Family histories suggest a dominant pattern of inheritance with penetrance and variable expressivity. Histopathological diagnosis of multiple jaw cysts was odontogenic keratocyst in all cases. All cysts were enucleated. No recurrence of cyst has been seen, but long-term follow up is necessary.