母娘に発生した基底細胞母はん症候群

Abstract

The basal cell nevus syndrome is inherited as an autosomal dominant trait with probably high penetrance and variable expressivity. The syndrome is characterized by cutaneous lesions such as multiple basal cell nevi and basal cell epitheliomas as well as palmar and plantar pits, multiple jaw cysts, skeletal anomalies, additional anomalies of facial skull and ectopic calcifications including those in intracranial areas.In this paper, a mother and her daughter are described with manifestations of the syndrome in a Japanese family. Many malformations associated with the patients are presented, who have something in common with each other in their appearance of symptoms, involving multiple jaw cysts, temporofrontal bossing (increased intracranial circumference), broad nasal root, intracranial calcifications, scoliosis, whereas skin lesions, including palmar and plantar pits, bifid rib, ocular hypertelorism, and dilatation of the ventricle are seen in one-side of the patients. These results confirm previous findings that the syndrome exhibits variable expressivity in the mother and her daughter as well, hence a certain kind of factor other than genetic background possibly plays an important role in variable expressivity of the syndrome.There are many subtle malformations inherent in the syndrome, as mentioned above, while the CT scan shows distinctly a peculiar and possibly common feature to the syndrome, which involves intracranial calcifications in the falx, tentorium and diaphragma sellae, suggesting that the CT scan proves to be of great use to establish the diagnosis of the syndrome.A simple pleitropic gene or multiple closely linked genes may participate in multiple malformations involving organs and systems of both ectodermal and mesodermal origin, as suggested before by Gorin and Goltz. The possibility of their suggestion is described and reevaluated. On referring to decreased DNA repair synthesis in the syndrome described already by several workers, the etiology of the syndrome is also discussed.