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 ::  Abstract
 ::  Introduction
 ::  Case report
 ::  Discussion
 ::  Acknowledgements
 ::  References
 ::  Article Figures

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ARTICLE
Year : 1979  |  Volume : 25  |  Issue : 3  |  Page : 186-188

Ehlers-Danlos syndrome with monostotic fibrous dysplasia


Department of Orthopaedics, Seth G. S. Medical College and K.E.M. Hospital, Parel, Bombay-400 012, India

Correspondence Address:
A A Rao
Department of Orthopaedics, Seth G. S. Medical College and K.E.M. Hospital, Parel, Bombay-400 012
India
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Source of Support: None, Conflict of Interest: None


PMID: 529175

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 :: Abstract 

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.



How to cite this article:
Rao A A. Ehlers-Danlos syndrome with monostotic fibrous dysplasia. J Postgrad Med 1979;25:186-8

How to cite this URL:
Rao A A. Ehlers-Danlos syndrome with monostotic fibrous dysplasia. J Postgrad Med [serial online] 1979 [cited 2019 Oct 13];25:186-8. Available from: http://www.jpgmonline.com/text.asp?1979/25/3/186/42146



 :: Introduction Top


 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.


 :: Case report Top


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.


 :: Discussion Top


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.


 :: Acknowledgements Top


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.



 
 :: References Top

1.Beighton, P, and Horan, F. T.: Surgical aspects of the Ehlers-Danlos syndrome­A survey of 100 cases. Brit. J. Surg., 56: 255-259, 1969.  Back to cited text no. 1    
2.Beighton, P. and Horan, F. T.: Ortho­paedic aspects of the Ehlers-Danlos syndrome. J. Bone and Joint Surg., 51B: 444-453, 1969.  Back to cited text no. 2    
3.Biering, A. and Iversen, T.: Osteogenesis imperfecta associated with Ehlers-Danlos syndrome. Acta Paediat. , 44: 279-286, 1955.  Back to cited text no. 3    
4.Carter, L. and Wilkinson, J.: Persistent joint laxity and congenital dislocation of the hip. J. Bone and Joint Surg., 46B : 40-44, 1964.  Back to cited text no. 4    
5.Conventry, M. B.: Some skeletal changes in Ehlers-Danlos syndrome-A report of 2 cases. J. Bone and Joint Surg., 43A: 855-860, 1961.  Back to cited text no. 5    
6.MacFarlane, L. L.: Ehlers-Danlos syn­drome presenting certain unusual features. J. Bone and Joint Surg., 41B: 541-545, 1959.  Back to cited text no. 6    
7.McKusick, V. A.: The Ehlers-Danlos Syndrome. In, "Heretable Disorders of Connective Tissue". 4th Edition, The C. V. Mosby Co., Saint Louis, 1972, pp. 292-371.  Back to cited text no. 7    
8.Schulmann, E. and Levy-Coblentz, G.: Hyperelasticite cutanee (cutis laxa) et laxite articulaire fragilite anomale de la peau et tumeurs molluscoides pest trau­matiques (syndrome de Danlos) [Radio­ulnar synostosis] Bull. Soc. Franc. de Dermat. Syph., 39: 1252-1256, 1932; as Quoted by McKusick7 (1972).  Back to cited text no. 8    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4]



 

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