Multiple Epiphyseal Dysplasia (MED) is an uncommon
anomaly of the bone and cartilage at the ends of the bones (epiphyses) in the
growing child. There are 6 primary types
of Multiple Epiphyseal Dysplasia. All are transmitted in an autosomal
dominant fashion except type 4.
EDM1 is caused by a heterozygous mutation in the gene
encoding cartilage oligomeric matrix protein (COMP). Most common.
EDM2 -a mutation in the COL9A2 gene
EDM 3 -a mutation in the COL9A3 gene
EDM 4 -a mutation in the DTDST gene. This type is autosomal recessive whereas the others are autosomal dominant.
EDM5 -a mutation in the MATN3 gene
EDM6 -a mutation in the COL9A1 gene
Historically, the more severe type of Multiple Epiphyseal
Dysplasia was known as the Fairbank type (dominant) while the more mild form
was known as the Ribbing type. The
Ribbing type was thought to have normal or more normal wrist and hands. These terms are no longer utilized.
The abnormal epiphysis at the bone ends leads to
progressively worsening ossification and this causes joint abnormalities often leads to stiff joints and arthritis. Onset varies by the
particular type- more severe types present earlier with childhood pain, often
in the hip or knees but also potentially involving the hands and wrists. The
fingers may be short and stiff.
The diagnosis is based on a clinical suspicion but it can be
a challenging diagnosis which is based on the patient’s history and
examination. An experienced orthopedic
surgeon or radiologist may detect x- ray changes- this experience is the key to
making the diagnosis. The diagnosis may
be confirmed by genetic testing as noted above.
There is no current treatment to prevent worsening or change
the course of Multiple Epiphyseal Dysplasia. Ultimately, there is a future potential for
genetic intervention. Currently, hand or physical therapy
may be helpful to maintain motion and surgery can be helpful to contour the
bone and joints and improve motion and decrease pain.
This is the case of an 8 year old child with Multiple
Epiphyseal Dysplasia. I met the patient to
assess the hands and wrists which had been stiff since a young age. There was discomfort with daily activities
but the biggest issue was related to function given the finger stiffness
(present for many years). The clinical
pictures demonstrate the finger posture (most notably PIP joint stiffness) and the x- rays confirm loss of joint spaces.
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Multiple Epiphyseal Dysplasia hand clinical photograph with stiffness of multiple joints |
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Multiple Epiphyseal Dysplasia hand side- view clinical photograph with stiffness of multiple joints |
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Multiple Epiphyseal Dysplasia hand x- ray |
Charles A. Goldfarb, MD
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