Multiple Heriditary Exostoses in a Family for Three Generation of Indian Origin with Review of Literature
LD01-LD03
Correspondence
Dr. Kalyani. R.,
Department of Pathology, Sri Devaraj Urs Medical College,
Sri Devaraj Urs Academy of Higher Education and Research, Kolar, Karnataka, India.
Phone : 9448402775, E-mail : drkalyanir@rediffmail.com
Multiple hereditary exostoses (MHE) are an autosomal dominant disorder, consisting of multiple cartilage capped bone tumour arising from the metaphysis of long tubular bones. Mutations are seen in Exostosin-1 and Exostosin-2 genes. We present a family of MHE for three generations. The index case was a 10-year-old male presented with multiple exostoses in hand, forearm, leg, right knee and chest. Family history revealed similar complaints in younger brother, father, paternal uncle, paternal aunt & her daughter and grandfather.