Name: Camilla
Adult: 33 years old
Location: East Sussex, UK
Areas affected: Left hand, index and middle fingers and arm
Personal History as revised 1/12/2007:
Diagnosed 2005, onset around 1985 aged around 11-12.
This diagnosis has been concerning for me as being a sculptor my work relies on my hands but fortunately I am right handed, so unless the pain becomes totally debilitating in my left hand, I can continue sculpting mainly with my right unaffected hand.
From around 11-12 years old, my middle and index fingers on my left hand started curling up, stiffening and swelling so that I couldn’t straighten them or curl them in fully to my palm. Then the tendon in the middle of my palm started to thicken and protrude. The nail is wider on the second finger, which is the worst affected and the first fingers end is a bit bent toward the second finger. The curling in of the fingers slowly got worse as did the thickening and this thickening has become harder over the years.
I suffer aching and pain in the hand and fingers and in the wrist and arm. It ranges from a dull ache to sharp pains from deep within the affected areas as well as being closer to the surface. The pain is worse if I am run down, overtired or ill and/or if it is cold. The pain is not debilitating but is there quite often and is at times triggered by use of the hand and arm. The hand feels very constricted which is unpleasant but I am used to it. The arm feels tight within the elbow when fully straightened. I am not able to use the left hand properly and as a result the muscles in this hand and wrist are wasted. I do use the left hand for balancing and carrying and minimally when working. I have to type with the right hand only, which I have adapted to without consciously thinking about it. As a child I was taken to see a specialist who suggested Dupuytren’s contracture but he was perplexed as he had never seen this in someone so young. I had some physiotherapy, which was of very limited (if any) benefit and I was told to stretch and force the fingers out to exercise them.
I have been told that melo is unrelated to an injury but despite this I wish to keep an open mind about this possible link as around 1986-7 I saw an osteopath, to treat a muscle spasm in my back (following a fall from my horse) and at the same time I showed him my hand. He asked if I had ever had a whiplash injury and I remembered an accident when I broke my nose and had had whiplash around late August 1984. The osteopath found restriction of movement in the mid cervical area, which he said could be irritating the nerve supply to the hand and causing impaired circulation and reduced nutrition to the affected area. The hand did seize up in the years following the accident and since the initial osteopath treatment the hand has not curled in significantly more but the thickening in the fingers has become much harder. This may be coincidental.
In 2005 on hearing the diagnosis the osteopath suggested:
“I think it would be interesting to check whether your childhood whiplash left a chronic problem in the neck producing irritation of the nerve roots C7, C8 and T1, these are the roots of the ulnar and interosseos n which serve the same areas of sclerosing. MRI scans of the neck should reveal something on this.. I suppose the point I'm making, is there a differential diagnosis between, a) melorheostosis-a condition of unknown etiolgy and, b) abnormal bone development arising from impaired nutrition/blood supply/chronic muscular strain/ nerve root irritation. This may be alleviated with treatment…”
In 2005 I saw Professor Wordsworth and Professor Rodger Smith at Nuffield Orthopaedic Hospital in Oxford. They confirmed the diagnosis and took a blood sample to do DNA sequencing but they found nothing in the LEMD3 gene in my sample that would be likely to cause any problems. Professor Wordsworth said that it was unlikely that my childhood accident would be of any relevance to this but that he can’t be sure. He said that those patients who develop melo who also have evidence of osteopoikilosis have mutations in the LEMD3 gene. To date patients like me without the additional osteopoikilosis seem not to have mutations in the gene and it is not yet known what is the cause in these cases but they are hoping to study tissue from an affected patient over the next year or two in order to try to understand what is causing the problem locally. It may be that mutations in the gene occurring in small parts of the body at a later stage of development could be responsible, but then again it maybe a localized problem in an entirely different gene.