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| Year : 1980 | Volume
: 26
| Issue : 2 | Page : 142-4 |
Ehlers-Danlos syndrome (a case report).
Menawat AS, Panwar RB, Singh HH, Kochar DK, Sulemani AA, Saksena HC
How to cite this article:
Menawat A S, Panwar R B, Singh H H, Kochar D K, Sulemani A A, Saksena H C. Ehlers-Danlos syndrome (a case report). J Postgrad Med 1980;26:142 |
How to cite this URL:
Menawat A S, Panwar R B, Singh H H, Kochar D K, Sulemani A A, Saksena H C. Ehlers-Danlos syndrome (a case report). J Postgrad Med [serial online] 1980 [cited 2023 Jun 8];26:142. Available from: https://www.jpgmonline.com/text.asp?1980/26/2/142/975 |
Ehlers Danlos Syndrome is a generalized disorder of one element of connective tissue manifesting clinically by fragility and hyperelasticity of the skin and loose jointedness. It is a heritable disorder, the inheritance being usually autosomal dominant with low penetrance. Autosomal recessive and X-linked recessive varieties are also known.[3], [9]
Although known from as early as the fourth century B.C. when Hippocrates [7] described lax joints and numerous burn like scars on the limbs of several Scythians,[10] the present state of knowledge about the various clinical aspects with varying inheritance patterns has been lately described. After the description of hyperelastic skin by Van Meekeren[13] and hypermobility of joints, in addition, by Koop,[8] Ehlers [6] first noticed the easy bruisability of the skin. Danlos drew attention to the peculiar cigarette paper scars and pseudotumour formation of the skin and also laid down four diagnostic criteria, namely, hyperelasticity of skin, fragility of skin, hypermobility of joints and subcutaneous molluscus pseudotumour formation.
The number of cases reported in the literature is very meagre. With the available information only about 500 cases had been reported till 1967, the majority being Europeans. Reports in the Indian literature[4],[5],[6],[7],[8],[9],[10],[11],[12] are still more scanty and hence the present case has been chosen for publication.
L.D., a 41 year old Hindu female attended the medical ,out-patient department with the complaints of gradually increasing looseness of the skin all over the body, generalized weakness, and laxity of skin and joints for the last 8 years. A history of bruising of the skin with even very trivial trauma could be easily ascertained but no episode of a major haemorrhagic accident had ever occurred in the past. The patient was an outcome of a full term normal delivery with no neonatal or perinatal morbidity. The family history revealed that she has 8 issues and none of them has any such complaint of skin and joints. Her mother died at the age of about 50 years and had similar hyperelastic skin and loose jointedness as did also her brother who has recently died of a cerebra-vascuular accident, under our care, at the age of 35 years.
Physical examination revealed a slightly overweight lady of average height and velvety skin all over the body. The conjunctiva was pale and the sclerae bluish white. The pupils were normal in size, rounded and reacting normally to light and accommodation. No evidence of cyanosis, jaundice, digital clubbing and lymphadenopathy could be obtained. The examination of the respiratory and cardiovascular systems was normal with a pulse rate of 78 per minute and blood pressure of 138/80 mm of Hg. However, a slight degree of visceroptosis was present.
Besides being smooth and velvety, the skin was extraordinarily hyperelastic especially over the elbows and the knees so much so that it could be pulled to the extent of about 4" to 5" [Fig. 1]. The stretching did not cause any pain. Spherules of varying sizes ranging from a few millimeters to a centimeter could be palpated on both the elbows and the sacral region. A cigarette paper scar was present on the left skin [Fig. 2].
The joints were hypermobile with the little finger practically touching the extensor surface of the wrist. There was no scoliosis or dislocation of the joints but flat foot and genu recurvatum were present on both the sides.
Routine investigations of blood and urine did not reveal any abnormality except a haemoglobin concentration of 10 g/dl. Tests for coagulation mechanism were normal as were also the blood levels of glucose, urea and electrolytes. Skiagrams 'of joints were (normal. Barium meal revealed multiple diverticula in the small intestine. Electrocardiogram was within normal limits.
Microscopic examination of the skin biopsy material showed a relative increase in the elastic fibres in the subepithelial tissues with scanty collagenous fibres, the report-being consistent with the diagnosis of Ehlers Danlos Syndrome.
The various clinical and biochemical features have helped to classify Ehlers Danlos Syndrome into 7 types.[9] An autosomal dominant inheritance with features predominantly of skin and joint involvement fit the present case into type II.
Besides all the features of skin and joint involvement, an asymptomatic diverticulosis of the bowel has also been detected radiologically. However, no evidence of other gut abnormalities like megaoesophagus, megacolon, gastric atony, rectal prolapse, hiatus hernia and intestinal perforation could be detected which have been described by various other workers.[1], [2]
Numerous abnormalities of the heart and vascular system have been reported e.g. atrial septal defect, Fallot's tetralogy, aneurysm of the sinus of Valsalva, dissecting aneurysm and multiple intracranial aneurysms.[3] None of these were found clinically in the present case. The death of the patient's brother due to a cerebrovascular accident at a comparatively young age suggests the presence of intracranial aneurysm.
The exact etiology of the syndrome is not yet known. Deficiency of certain enzymes has been detected of which procollagen lysilhydroxylase and procollagen protease are the important ones.[10] This is supposed to result into defective cross linking of various hydroxyproline and hydroxylysine units. The collagen meshwork thus formed is loose and is responsible for the symptomatology.
| 1. | Aldridge, R. T.: Ehlers-Danlos syndrome causing intestinal perforation. Brit. J. Surg., 54: 22-25, 1967.  |
| 2. | Beighton, C. H., Murdoch, C. L. and Votteler, T.: Gastro-intestinal complications of Ehlers-Danlos syndrome. Gut, 10: 1004-1008, 1969. |
| 3. | Bruno and Narasimhan, P.: The Ehlers Danlos syndrome-A report of 4 cases in 2 generations of a Negro family. New Eng. J. Med., 264: 274-277, 1961. |
| 4. | Chakraborty, A. N., Banerjee, A. K. and Ghosh, S.: Ehlers-Danlos syndrome (Cutis hyperelastica). J. Ind. Med. Assoc., 23: 344-345, 1954. |
| 5. | Danlos, H. A.: Un cas de cutis laxa avec tumeurs par contusion chronique des coudes et des genoux (Xanthome Juvenile pseudo diabetique de M. M. Hallopeau et Mace de Lepinav)., Bull. Soc. franc. de dermat. et. Syph., 19: 70-72, 1908. As quoted by Bruno & Narasimhan (1961).[3] |
| 6. | Ehlers, E.: Cutis laxa Neigung, Zn Hemorrhagien in der Haut, Lockerung mahrerer Artikulationen. Dermat. Ztshr., 8: 173, 1901. as quoted by Bruno and Narasimhan (1961)[3] and Papp and Paley (1966).[10] |
| 7. | Hippocrates (4th Century, B . C .) : Quoted by Bruno and Narasimhan (1961).[3] |
| 8. | Koop, L.: Aertzlicher verein Munchen: Demonstration Zweier Falle von "Cutis Laxa". Munchen med. Wchnschr., 35: 259, 1888. As Quoted by Bruno and Narasimhan (1961).[3] |
| 9. | McKusick, V. A.: Editorial-Multiple forma of the Ehlers-Danlos syndrome Arch. Surg., 109: 475-476, 1974. |
| 10. | Papp, J. P. and Paley, R. G.: Ehlers Danlos syndrome. Incidence in three generations of a kindred. Postgrad. Med., 40: 586-592, 1966. |
| 11. | Sepaha, G. G., Manjrekar, A. and Jain, S. R.: Ehlers-Danlos syndrome. J. Ind. Med. Assoc., 47: 335-336, 1966. |
| 12. | Singh, S. D., Munjal, M. and Mansharmani, R. K.: Ehlers-Danlos syndrome. A brief review with a case report. Ind. J. Paediat., 31: 1-3, 1964. |
| 13. | vanMeek'ren, J.: a' Observations Medico Chirurgie". Amersterdam, Bloom, 1682, p. 392. As Quoted by Bruno and Narasimhan (1961).[3] |
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