Ollier's disease (enchondromatosis)

Introduction

A disorder affecting the bone growth plate in which the hypertrophic cartilage is not reabsorbed & ossified normally. When associated with hemangiomas is known as Maffuci syndrome.

Etiology

unknown

Pathology

• enchondromas are common benign cartilage tumors of bone; they can occur as solitary lesions or as multiple lesions in enchondromatosis
• residual cartilage with a disorderly arrangement of chondrocytes with variable proliferative & hypertrophic changes
• metaphyseal in association with growth plate in young children
• often diaphyseal in teenagers & adults
• commonly at the ends of long bones
• pelvis often involved
• unilateral involvement common

Genetics

• associated with defects in PTHR1

Clinical manifestations

• skeletal deformity

Complications

• chondrosarcoma develops occasionally

More general terms

• bone disease; osteopathia

Additional terms

• hereditary multiple exostoses (diaphyseal aclasis)

Database

• OMIM: https://mirror.omim.org/entry/166000