Name:  Kathleen

Age:  54

City and state:  New York, NY

Areas of involvement of melorheostosis:  right hand, bilateral arms and shoulders

Personal History:

From early childhood my first symptoms were an overly wide right middle finger and extra calcium deposits on my right ring finger.  As time progressed the condition worked its way up my right arm resulting in an additional “bump” on my right hand near the wrist and numerous little “lumps” in my right elbow. The condition in childhood was painless and caused no significant problems.  No diagnosis was made during childhood and doctors were unconcerned since there were no complaints of pain or loss of function.

In my late teen years I consulted an orthopedist who was enthralled by my x-rays and who, fortuitously, was on his way to a major orthopedic conference.  He presented the x-rays at the conference and reported that they sparked an animated debate, splitting the conference down the middle as to the diagnosis (the debate was between melorheostosis and a second condition, the name of which I have forgotten but which I was told should have killed me by the age of 16!)  Attending the conference was a doctor I was later told was the best in the field, Dr. William F. Enneking (now retired), from the University of Florida College of Medicine.  I consulted him and he was sure the diagnosis was melorheostosis.  He said he believed I would eventually lose some degree of function of my right hand and at that point surgery would probably be necessary.  I consulted Dr. Enneking annually for a number of years and have been in touch from time to time with this gifted and caring physician.

Over the years, the melorheostosis continued to progress up my right arm, causing my upper arm to be somewhat misshapen, with the area near the elbow wider than normal and the area toward the shoulder narrower than normal.  I’ve had pain-- constant achy pain with varying intensity--and an array of other pains that would periodically come and go.  I also had stiffness in the hand, arm and shoulder and eventually lost the full extension of my right elbow.  I did not, however, ever lose the function of my hand.

I had always been told that my condition was limited to my right hand and arm and that, by approximately age 30, the progression would stop and I would be left with the resulting deformities.    Eventually, however, I developed pain and stiffness in my neck and shoulders.  X-rays showed significant melorheostosis not only in the bones but also the surrounding tissue, which contained substantial deposits of calcium.  The major surprise was that my left upper arm and shoulder, which had no external symptoms, were affected at least as badly as the right. 

The melorheostosis has now continued down my left arm and can be seen in x-rays and MRIs of my left elbow.  It appears not to have gone into my left forearm or left hand at this point.  (Of course, I do wonder what will happen when it reaches the end of my left hand.)

Two years ago, I had surgery on my right middle finger to remove a lump of bone on top of the right middle finger, by an orthopedic surgeon who specialized in hand surgery, Dr. Richard Eaton (now retired).  The lump was positioned in such a way that it hit on everything and caused, what is to me characteristic, intense achy pain.  (I have also found that whenever I hit a lump caused by melorheostosis, the bone reacts by laying down yet another layer of bone so a bump that continues to be hit, continues to grow larger.) The surgery went well and healed normally except for a reaction to the stitches.  At the point where the knot was placed I had a reaction of inflammation, which caused a new lump of bone to form, which is now larger than the lump that was removed.  The lump that was removed has grown back slightly.  Looking back, I feel the surgery was a mistake because of the unanticipated reaction of the melorheostotic bone to the surgery. 

My current dilemma:  Despite the melorheostosis in my upper extremities, bone density tests have revealed near osteoporosis in my hip and spine.  This discovery leads me to pose the following questions (which I will also post on the Discussion Board):

1)      Can melorheostosis is one area of the body cause osteoporosis/osteopenia in other areas or are these two independent processes?

2)      Is there any information on the effect of treatment for osteoporosis/osteopenia, e.g. bisphosphonates, on melorheostosis?

Comments:   I know only good things can come from all of us with melorheostosis forming a supportive, sharing community via this wonderful, powerful Internet.  The sharing of our research and experiences is invaluable -- as several people have said, “We are no longer alone.”     

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