Mixed sclerosing dysplasia of the bone associated with ovarian and skin problems

Gunal I., Taymaz A., KARATOSUN V. A., Toylu A., Degirmenci B.

Clinical Orthopaedics and Related Research, no.436, pp.270-276, 2005 (SCI-Expanded) identifier identifier


The clinical, radiologic, histopathologic, and genetic features of a sclerosing bone dysplasia found in three members of a family are described. The bone disorder affected all metaphyseal-diaphyseal regions of all long bones, the skull, and three metacarpals. All affected members also had ichthyosis vulgaris and premature ovarian failure. These features have not been reported before, indicating a new syndrome. © 2005 Lippincott Williams & Wilkins.