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Ehlers-Danlos syndrome with monostotic fibrous dysplasia AA RaoDepartment of Orthopaedics, Seth G. S. Medical College and K.E.M. Hospital, Parel, Bombay-400 012, India
Correspondence Address: Source of Support: None, Conflict of Interest: None PMID: 529175
An unusual case of Ehlers-Danlos syndrome with monostotic fibrous dysplasia of the humorus is presented. The other orthopaedic manifestations, its complications and associated features are reviewed and summarised.
Ehlers-Danlos syndrome More Details is a connective tissue disorder and is known to present with varied orthopaedic and medical manifestations. However, its association with fibrous dysplasia has not been reported so far. Here, we are presenting a case report of a boy having Ehlers-Danlos syndrome with monostotic fibrous dysplasia affecting his right humerus and a brief summary of the available literature.
A 12 year old Hindu boy hailing from Uttar Pradesh reported on 26-4-1978 at the outpatient department of the Orthopaedic Centre, K.E.M. Hospital, Bombay, with the complaints of pain and swelling of his right arm of three years' duration. The pain was of a dull aching character with no aggravating or relieving factor. The swelling had been increasing slowly. He also complained of a dislocating left elbow. His birth history and milestones were normal. Family history revealed (that none of his relations has) no similar affection. On examination, he was found to be averagely built and nourished. He had a fusiform thickening of the middle one-third of his right humerus. The swelling was not tender and showed no signs of inflammation. The soft tissue over the bone was found to be normal. In addition, nearly all his joints were hypermobile. Both elbows could be hyperextended upto 30° and abducted upto 80°. His left elbow had a dislocation of the radial head. Both his thumbs could be passively stretched and made to touch the flexor surface of the forearms. (See [Figure 1] on page 196A). Similarly his fingers could be hyperextended for more than 90°. (See [Figure 2] on page 186A). The skin over his cheeks, chest and limbs appeared to be mildly elastic. With these findings a diagnosis of EhlersDanlos syndrome was made. Radiological examination of the right humerus (See [Figure 3] on page 186B) showed a fusiform cystic lesion of the middle third of the humerus with thinning and ballooning of the cortices. There was no sharp delineation of the normal and affected region and the latter had lost its trabeculae and gave a ground glass appearance. A detailed skeletal survey did not show any bony abnormality except the dislocation of the radial head (See [Figure 4] on page 186B). Routine blood and urine examination were normal. Bleeding and clotting time were within normal limits. The cystic lesion of humerus was diagnosed radiologically as monostotic fibrous dysplasia. On 10-6-1978, through an antero-lateral approach a window of 4.5 x 1.5 cms in the middle one-third of humerus was made and the lesion thoroughly curetted The material was soft, greyish and wax-like. It could be cut with a "gritty" feel. It was proved to be consistent with fibrous dysplasia histologically. The resultant cavity was packed with autogenous iliac bone and processed homogenous rib grafts*. The arm was protected in plaster for 6 weeks. The wound healed primarily without any problem though the scar appeared thinner and wider than normal, and the cyst consolidated radiologically in 6 weeks.
Ehlers-Danlos Syndrome is characterised by an extensible skin, hypermobile joint, fragile tissues and a bleeding diathesis. The majority of orthopaedic manifestations are due to joint laxity and friable tissues. They can be grouped under the following headings: (1) Laxity of the joint capsule gives rise to hypermobility in the joints with or without subluxation or dislocation. Beighton and Horan [2] adopted the method described by Carter and Wilkinson [4] to evaluate the joint laxity. Patients were given one point for each of the following: (a) Passive dorsi-flexion beyond 90 0 for the little finger with the forearm flat on the table [Figure 2], (b) passive opposition of the thumb to the flexor aspect of forearm [Figure 1] (c) hyperextension of the elbow of 10°, (d) hyperextension of the knee by 10° and (e) forward flexion of trunk to make the palms of their hand rest flat on the floor. They were of the opinion that any patient having more than three points should be labelled as a case of Ehlers-Danlos syndrome. Applying this system to our patient it was found that he had four positive points making him a case of Ehlers-Danlos syndrome. (2) Laxity of the joint capsule gives rise to habitual dislocation of hip, patella, shoulder, radial head and other joints. [2] Pes planus is common. (3) Joint effusion is commonly seen and these patients are prone to develop early osteoarthritis. Deformities of the spine like kyphoscoliosis, [5],[8] Giraffe-like neck [5] and spondylolisthesis are known. (4) Ectopic bone formation restricting joint movements are due to recurrent hemorrhages and the elbow movements especially supination and pronation are limited due to synostosis. [8] (5) Large bursal affections are seen over the olecranon, patella and tendoachilles as a response to trauma. McKusick [7] considered the EhlersDanlos syndrome a connective tissue disorder and placed it with Marfan's syndrome, Hurler's syndrome etc. Beiring and Iverson [3] reported for the first time a case with the combined manifestation of Ehlers-Danlos syndrome and osteogenesis imperfecta along with a bone dysplasia. No other report of the same was found after going through the available literature. Ehlers-Danlos syndrome has been divided into seven groups according to their manifestations: [1],[7] I. Gravis II. Mitis III. Benign hypermobile IV. Ecchymotic V. X linked VI. Hydroxylysine deficient collagen VII. Collagen protease deficiency Most of the orthopedic manifestations are predominantly of type III where joint hypermobility is marked. The prognosis of this syndrome depends on the type, associated congenital anomalies and associated complications.
I take this opportunity to thank Dr. R. S. Dhir, Professor of Orthopaedic Surgery and Dr. C. K. Deshpande, Dean, K.E.M. Hospital, Bombay, for permitting me to report the hospital data.
[Figure 1], [Figure 2], [Figure 3], [Figure 4]
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