Multiple heriditary exostoses in a family for three generation of Indian origin with review of literature

Abstract

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.

Keywords: Exostoses; India; Multiple hereditary exostoses.

[Table/Fig-1]:

Photograph of index case showing the deformity of shoulder, elbow, wrist, knee, ankle joint, right and left scapula, ribs on right side

[Table/Fig-2]:

X-ray photograph showing exostoses at knee and ankle joint. Gross photograph of one excised exostoses showing linear bone with cartilage cap and multiple excised exostoses. Microphotograph showing well formed bony trabeculae with benign cartilage

[Table/Fig-3]:

Photograph of index case with father, grandfather showing deformity in knee joint, shoulder and elbow joint

[Table/Fig-4]:

Photograph of grandfather, paternal uncle and younger brother of index case showing deformity in knee joint with multiple exostoses

[Table/Fig-5]:

Family pedigree of 3 generations with MHE