|Year : 1976 | Volume
| Issue : 2 | Page : 25-28
Pseudoxanthoma elasticum-a case report
NS Venugopal, D Samraj
Government Ophthalmic Hospital, Madras-8, India
N S Venugopal
Government Ophthalmic Hospital, Madras-8
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Venugopal N S, Samraj D. Pseudoxanthoma elasticum-a case report. Indian J Ophthalmol 1976;24:25-8
Pseudoxanthoma elasticum is a recessively inherited disorder with a genetically abnormal elastic fibres and tendency to calcification in the skin, oral mucosa, eyes, gastric mucosa and coronary arteries. Calcification with fibrous thickening in the media of a large peripheral arteries leading to severe and premature atherosclerosis and secondary hypertension is a common occurrence. In this condition there is a degeneration of elastic fibres in the deeper part of the skin. With the skin manifestations and the simultaneous occurrence of angioid streaks-this condition is known as Groenblad and Strandberg syndrome. The skin manifestation presents as thickening, wrinkling and discoloration of the skin especially near the flexures, over the abdomen, axilla, breasts, elbows, chest, neck, appear early in life as small velvety, striae or nodules. A case of this condition is reported in this communication for its rarity of occurrence.
| Case Report|| |
A female of 40 years was admitted in Government Ophthalmic Hospital, Madras, for defective vision on the left eye of one year duration. This was associated with a dark spot in her field of vision. A similar abnormality had developed in the right eye during the past three months.
On examination patient had thickening, wrinkling in some parts, thick folds-striae on the neck and posterior axillary areas, coloured brownish yellow and papules over the nape of neck. A similar skin-lesions was also reported to be present in her grand-mother and eldest daughter but with no eye involvement. The skin abnormally came as rubber on pulling out to a certain extent (loss of elasticity) [Figure - 1]. Systemic examination revealed mild hypertension (150/96 m.m. Hg)
Left eye : Adenexa and anterior segment were normal. Tension was normal. Vision was reduced to finger counting at 1 /4 metre. Central field showed central scotoma merging with blind spot.
Fundus : The disc was normal in colour and was surrounded by a light grey zone of 1/4 disc diameter in width from which small grey streaks of less than 1/4 disc diameter width, ran peripherally in radial direction with tapering ends. They were deeper to the retinal vessels, some were continuous and some were interrupted with a few small haemorrhagic spots in the periphery with a big haemorrhagic spot in the macular area horizontally running in between the macular and the disc of the size of 1 disc diameter x1/2 disc diameter. Retinal vessels were normal. [Figure - 2]
Right Eye : Adnexa and anterior segment were normal. Tension was normal. Vision was reduced to 6/12.
Fundus : Almost a similar picture to that of the left eye with angioid streaks, few haemorrhagic spots and a few exudates were present. [Figure - 3]
| Investigations|| |
Routine investigations were normal. Blood pressure was 150/96 m.m. Hg.
With the above findings a diagnosis of pseudoxanthoma elasticum was entertained. The case was referred to Skin Department, Government General Hospital for the skin condition and the diagnosis of the same was confirmed clinically and by histologically. [Figure - 4]
| Discussion|| |
This uncommon condition occurs usually between 30 and 50 years. In the majority of the cases the macula is affected and this may seriously affect the visual acuity. Both eyes are always, although usually, unequally affected. In 1889, Doyne reported a case with a coloured drawing of the retinal picture as shadowing network of sinous branching around the disc and extending out into the fundus. This network was situated more deeply than the retinal vessels and tapered as they extended with white lines on each side of the grey streaks. The colour of the streaks may be brown or black and may vary from point to point or may not have a white border or be white throughout. Streaks may also resemble pre-formed or new built vessels, coloured by a perivascular deposit of haematogenous pigment. Sometimes the streaks appear frankly red like actual vessels, although without visible connections with the retinal and choroidal vessels. Sometimes it may resemble the vessels either in the form or in colour and occasionally crossed by red-lines which appears to be underlying choroidal vessels resembling minor varieties of traumatic choroidal rupture or the fissures of the membrane of Bruch's and the retinal pigment layer of the highly myopic eye.
Angioid streaks show fluorescence on photography during the arterial phase which increases during the venous phase. This is ascribed to increased visibility of the choroid as a result of the local defect in the pigment epithelium and Bruch's membrane and in the later phase to the leakage from the adjacent choriocapillaries.
Reference has been made to the frequent clinical association of angioid streaks and disciform degeneration at the macular area and the similarity of the histological changes suggest some pathogenetic link between them. As a rule the angioid streaks are slow in progress and completely static while the macular lesions are apt to pass through several phases in relatively quick succession. Sometimes the angioid streaks appear before the macular changes or become visible only after the absorption of haemorrhages or exudates.
Two possibilities are suggested to be the cause of angioid streaks : (1) Degenerative changes in Bruch's membrane which are incidental to several other pathological conditions; (2) Primary degeneration of the Bruch's membrane which is bilateral and inherited with elastic tissue degeneration in other tissues of the body. The degenerated membrane shows staining changes, thinned out in places and gaps which appear as cracks, erosion and perforation. Coincidentally with the alteration in Bruch's membrane and integral to the diseases are vascular changes in the choroid which lead to transudation haemorrhages and neovascularisation. The frequent appearance of the streaks long before there are signs of exudation or neovascularization suggests a primary degeneration of Bruch's membrane.
The case under report revealed both angioid streaks and typical skin lesions of pseudoxanthoma elasticum which is rarely encountered.
The prognosis is often very poor because of the haemorrhagic exudative changes which may affect the macula. There is no way of treating the condition or preventing its more serious developments.
| Summary|| |
A case of pseudoxanthoma elasticum with eye and skin changes (Groenblad and Strandberg syndrome) has been reported with hereditary transmission. Typical clinical and fundus findings were observed in the case under report.
| References|| |
Arthur J. Ballantyne and Isaac C. Michaelson, The Text Book of the Fundus of the Eye, Pp.
588592-Second Edition 1973-Churchill Livingstone, Edinburgh and London.
Arnold Sorsby, Modern Ophthalmology, Volume
II, 1963, P. 569, Butterworths, London.
Leaver, W.F., 1967, Histopathology of the Skin, Congenital Disease (Cenodermatoses), Pp.
75-78, Lippincott, Philadelphia, 1967.
[Figure - 1], [Figure - 2], [Figure - 3], [Figure - 4]