MELORHEOSTOSIS IN A PATIENT WITH FAMILIAL OSTEOPOIKILOSIS

We report on a 40-year-old woman with melorheostosis who also had radi ographic findings of generalized osteopoikilosis. Three of her sibs ha ve osteopoikilosis, but none of them have melorheostosis. Several case s of ''mixed sclerosing bone dysplasia'' have been described previousl y, and all have been sporadic. Isolated melorheostosis without osteopo ikilosis is also generally a sporadic condition, but osteopoikilosis h as been described as an autosomal-dominant trait. The finding of mixed sclerosing bone dysplasia in a family with osteopoikilosis suggests t hat the melorheostotic component of this disorder may be due to a seco nd mutation at the same locus that causes isolated familial osteopoiki losis. (C) 1997 Wiley-Liss, Inc.