Dysplasia epiphysialis multiplex (Multiple Epiphyseal Dysplasia)           (Fairbank's Disease)

1. Epiphyses

• the radiologic finding of multiple abnormal epiphyseal ossification centres is diagnostic
• affected epiphyses are:
  • late ossifying
  • small, irregular, mottled and/or fragmented
  • irregularly mineralized
  • usually found in the long bones of the lower limbs
• the involved epiphyses in the Fairbank Variant may be small while those in the Ribbing Variant may be flat
• a single deformed mature epiphyseal centre may arise from multiple late-appearing smaller coalescing centres
• involvement of epiphyses is usually symmetrical but not necessarily uniform
• upper extremity involvement:
  • may be minimal or severe
  • affects the proximal humerus (shoulder), elbow, and wrist joints
  • the distal ulna may be longer than the radius leading to subluxation
  • the carpal (and tarsal) bones may be affected with delayed, small, and irregular ossification centres
  • the tubular bones of the hands are often shortened with the middle and distal phalanges most commonly affected

2. Bones

• short, broad femoral neck
• mild metaphyseal flaring
• short metacarpals and phalanges
• diminished length of tubular bones
• double-layed patellae
• flattening and deformation of the joint surfaces eventually leads to articular deformation of the affected joints and osteoarthritis

3. Thoracic Vertebrae

• usually spared but also:
  • blunted, ovoid, or flattened
  • mild end-plate deformities
  • Schmorl nodes
• no kyphosis or scoliosis

Musculoskeletal Manifestations

Multiple Epiphyseal Dysplasia (MED), sometimes call Fairbank's Disease, is an uncommon inherited condition resulting in the formation of abnormal epiphyses or bone ends.

MED is often initially diagnosed as Perthes Disease, because symptoms are similar, but more extensive x-rays confirm MED.

Although present at birth, symptoms of MED do not develop until years later. Occasionally, children develop an awkward walk or run between two or five years but may not present until the age of six or seven. Sometimes it is not until teenage years when children develop a limp, and unexplained pain in their hips, knees or ankles that x-rays show damage to the main weight bearing joints and MED is diagnosed.

Multiple Epiphyseal Dysplasia (a common type of osteochondrodysplasia) is characterized by disturbance of normal ossification with in epiphysis. It's pathologic abnormality is a disturbance in enchondral ossification of epiphyses and physes and is inherited as an autosomal dominant trait with variable expressivity.

The disorder is manifested as multiple areas of abnormal growth and ossification of the epiphysis. It tends to be bilaterally symmetrical and to affect predominantly hips, knees, ankles, and wrists. Irregularities of joint surfaces often lead to degenerative arthritis, with significant disability by third or fourth decade of life.

Diminution in stature is present although not severe, ranges from 145 to 170 cm in adults. It is not often manifestated until age 5-14 yr and the hips, knees, & ankles are affected primarily.

 

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