|Year : 1963 | Volume
| Issue : 3 | Page : 62-67
Xeroderma pigmentosum with eye affection
Medical College, Pondicherry, India
|Date of Web Publication||28-Jan-2008|
M C Misra
Medical College, Pondicherry
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Misra M C. Xeroderma pigmentosum with eye affection. Indian J Ophthalmol 1963;11:62-7
First described by Kaposi in 1870 and called Dermotoses Kaposi after him and later by Brooke in 1892, the disease has since been described under various names :- Angioma pigmentosum et atrophicum; Atrophoderma pigmentosum, Melanosis lenticulosis progressiva, lioderma essentialis cum melanosis et Telengiectasia, and Lentigo maligna. While the French called it Epitheliomatose pigmentaire.
Xeroderma Pigmentosum is a rare hereditary disease of the skin, which begins in childhood, is characterised by hyperpigmentation, atrophic areas, telengiectases, warty and malignant growths.
| Case Report|| |
The patient M. a Christian female aged 35 years, was admitted on 7th October 1960 on the surgical side because of the presence of pigmented spots all over the face and body and a complaint of an ulcer on the right side of the nose. She was referred to the ophthalmic department for redness and lacrymation of the right eye.
About six years back, the patient first noticed small papules (termed by her small-pox) on her face which were followed three months later by black spots first on the face and then over the whole body. These kept on increasing in number, size and pigmentation. The ulcer on the nose commenced about 3 years back which has failed to heal.
The eye complaint started soon after the ulcer on the nose, with redness and lacrymation of the right eye, followed by a tiny pigmented 'Spot' on the inner side of that eye. [Figure - 3] which has kept on increasing, spreading steadily across the eye, but with remissions and exacerbations of symptoms. For the last five months she has been experiencing photophobia and diminishing vision. The left eye also has pigmented areas and a tiny growth but there are no symptoms.
Family History:- The parents of the patient are first cousins. Both parents are alive and were reported to be normal. The patient is the eldest of a family of seven children, four girls and three boys. The second and the third girls, died at ages of 12 and 3 years respectively. The former alleged to have died of 'small pox', had similar black spots on the face and body and the latter from a 'boil' in the back. Other children are all healthy and alive. The patient is the third wife of her husband and has two children - a girl aged about 2 years, and a son about 12 months. Both do not show any signs of the disease.
Examination:-The patient presented with widespread pigmented spots over the exposed parts of the body, affecting severely the face and neck, and to a less extent upper chest and extensor surfaces of arms and hands [Figure - 1]. The legs including the parts normally covered by clothing were either affected sparsely or not at all. Their colour varied from bluish black to black and their size from 2 to 5 mm, some of there coalescing to form large irregular areas. The skin' between the areas was normal. The affected areas were mostly flat. Only a few appeared to be lightly raised above the surface. There was a shallow ulcer on the right ala of nose 1.o cm. in diameter with an irregular shaggy floor and indurated margins [Figure - 2].
Both eyes showed large deposits of pigment in the conjunctiva, more marked in the right eye, which also had a large black pigmented area 6 to 7 mm across the middle of the lower tarsal conjunctiva and a similar small area on the upper. There was a growth spreading from conjunctiva to cornea on the nasal side across the limbus in both eyes. The growth in the right eye being very extensive was covering almost half of the nasal cornea [Figure - 3], It presented an irregular raised surface, elevated about 1.5 to 2.0 mm, fleshy thick and very vascular in appearance. It was moderately hard and not movable over the underlying tissues. About a quarter of the thickness of the cornea was infiltrated. There was early infiltration across the limbus temporally in the right eye and nasally in the left. No corneal ulceration was present.
An examination on slit-lamp revealed that these areas of very early corneal infiltration which appeared thinly grey otherwise, showed deposition of dust-like brown pigment just underneath the epithelium. The pigment deposits, became progressively thinner towards the periphery of the lesion till normal corneal tissue was reached. The surface of the affected area of the cornea appeared slightly faceted. Systemic Examination and laboratory investigations revealed no abnormality.
i) From edge of the ulcer on nose:- epidermoid carcinomatous tissue was reported [Figure - 6].
ii) From conjunctival growth right eye:- also revealed epidermoid carcinoma. [Figure - 7].
iii) A piece of apparently normal skin from facial region:- shows hyperkeratosis with atrophy of the prickle cell layer, elongation of the retipegs which are deeply pigmented. The capillaries in the immediate sub-epithelium are dilated and there are patchy inflammatory cells consisting of lymphocytes and macrophages carrying melanin pigment. The picture is typical of Xeroderma pigmentosum. [Figure - 8]
Progress: The conjunctival growth in the right eye steadily spread to almost three fourths of the cornea. The early infiltration in the left eye showed only slight increase.
Enucleation of right eye which was extensively damaged was refused. After a lapse of almost ten months the patient reported again when, she stated that she had lost vision of right eye about a month after leaving the hospital. She was now complaining of slight blurring of vision in the left eye for three days and severe pain in both eyes.
On examination, the entire right globe was covered by a rounded tumour mass protruding through the palpebral fissure [Figure - 4]. It was pink, fleshy, smooth and highly vascular. The entire, mass moved with the globe. The left eye showed ciliary flush, more prominent at the nasal limbus. Here, encroaching on to the cornea was a pink fleshy, smooth highly vascular mass, measuring 5.0 Trim x 7.0 mm and 1.5 to 2.0 mm high. The physical characteristics of this tumour were exactly like those of the tumour in the right eye. The area at the limbus which showed only very early microscopic infiltration on the first visit now presented a well developed tumour [Figure - 5].
The ulcer on the right ala of the nose now measured 1.5 cm x 1.5 cm. It had eroded through, and split the right nostril.
Both preauricular and right submandibular glands were enlarged, firm, tender and moveable.
Treatment: In view of the advanced stage of the disease and no known effective treatment, the patient was sent to The Bernard Institute of Radiotherapy, Madras for a course of radiotherapy. After a few exposures however, the general condition of the patient deteriorated. Local reaction to radiotherapy was much more severe and the patient complained of severe pain. Radiotherapy was therefore discontinued.
| Discussion|| |
Xeroderma Pigmentosum is an actinic dermatoses due to exposure (280 to 310 milimicron of ultra violet) of an unusually severe type, probably due to some chemical disturbance in the body, which allows surface epithelium to react abnormally to sunlight (LYNCH 1934). Martenstein found no sensitivity to visible and heat rays but marked sensitivity to Roentgen and alpha rays and slight sensitivity to grenz rays.
It was considered that white, and less heavily pigmented races were most susceptible to the disease. Negro, the most heavily pigmented race was considered immune, but a number of cases have been reported in Negroes (King, H. and Hamilton C. M. 1940). A heavily pigmented skin should not react any differently to the actinic rays of the spectrum, the causative agent of the disease. The case under discussion was also dark in complexion.
According to Haldane the condition is due to an incompletely sex linked recessive gene. Transmitted as a recessive character the disease tends to occur in two or more members of a family frequently appearing after a consanguineous marriage. A peculiarity of the heritage is that it affects only one sex in each family. Consanguinity is therefore an important factor in transmission and propagation of the disease tendency. This fact is clearly brought out by the family history of the present case where the patient born of a marriage between first cousins has parents who themselves are free of the disease but a sister who presumably died of the same disease at the age of 13. Bering and Bernewtiz (1932) found that 17.1 per cent of the affected individuals occurred in consanguineous marriage. This view is also shared by Zieber (1928). However it is interesting to note that both the affected members of the family were females, the sister of the patient who died presumably had the earliest stage of the disease - an acute erythematous eruption.
The disease usually begins in early infancy or childhood during the first years of life. In milder cases it may be noticed at a later age. The earliest skin lesion to appear in a typical case is an acute erythema on first exposure to sunlight. The lesions appear on the exposed parts of the body including face, neck, upper chest hands and forearms. In several instances, apart from an unusual tendency to freckles and sunburn, no untoward events may occur until adolescence or early adult life, when multiple papillomatous tumours, eventually becoming malignant and frequently pigmented, begin to appear. Among the malignant transformations, the most common is basal cell carcinoma and less frequently squamous cell carcinoma. Melanoepiltheliorna, sarcoma and even endothelioma have been reported.
The earliest ocular symptoms, or indeed of the disease proper, may he photophobia and lacrimation. Keratitis almost always develops characterised by areas of infiltration, mainly superficial. The skin of the lids tray be involved by various malignant growths. Malignant growth may affect the conjunctiva also. The conjunctival growth is usually at or near the limbus, and may invade corneal stroma at a later stage. The spread is lateral rather than in depth. Involvement of central part of cornea may seriously impair vision. Cancerous nodules in orbital tissues attached to bony walls have been described by Kaposi (1870) Greff, (1901) and Lederer (1919).
In the early stages of the disease however, a limbal growth may possibly be mistaken for a pterygium or a benign tumour, and its association with the generalised skin condition may be missed. This is most likely to occur, in a case where skin shows few characteristics of the disease. The malignant transformations in skin do not always precede similar changes in the eye, and the disease may manifest itself for the first time in adult life. Very early malignant infiltration of the limbus and cornea as noticed on the first visit in the left eye of this case can be detected by slit-lamp examination only. In the presence of irritative symptoms like pain, lacrimation and photophoebia, such infiltration may be termed keratitis. It is therefore important that the disease must be kept in mind even in cases of seemingly benign tumours in the eyes, when they appear in conjunction with pigmented spots in the skin, which may or not show malignant changes. Slit-lamp microscopy must be employed to detect earliest malignant infiltration of cornea.
The course of the disease is variable. There is evidence to show that the earlier the onset of disease, the greater the malignancy. Children may die of merasums within several months. Death usually occurs within 10 years of the onset of disease. In cases where the disease manifests later in life as in the case under discussion, it may run a relatively benign course and be arrested for a length of time. In others, malignant transformations tray occur several years after the onset and end fatally. Some patients may how ever remain alive for 40-45 years.
Buermann and Gougerat (1906) report the case of a patient 67 years of age. In our case the patient's sister died by the age of twelve years, while the patient herself, in whom the onset was delayed is still alive at the age of 35 years.
The treatment of the disease is most unsatisfactory. No available treatment will check the disease process as a whole. Good results have been reported in the treatment of localised malignant growths with X-rays and radium (Johan Saebo, 1948). Radiotherapy does not help in every case as is obvious from the case under discussion. Surgical excision of localised growth wherever possible would seem to he the treatment of choice.
Prophylactic treatment consists of avoidance of exposure to sunlight by means of protective coverings and use of lotions. A planned reversal of sleep rhythm has been suggested, where patient works at night and sleeps during the day. In view of the high incidence of consanguinity in the family of affected individuals eugenic measures would help in cutting down the incidence of the disease.
| Summary|| |
A case of Xeroderma Pigmentosum in which the eyes were affected is described with a progress report. Consanguinity and familial incidence is established. The difficulty of recognizing the disease in the early stage is mentioned.
No effective treatment of the disease as a whole is available. Prevention measures are stated.
It is emphasised that whenever pigmented spots in the skin occur in association with seemingly benign tumours of the eye this disease must be kept in mind.
I am grateful to the Principal and Medical Superintendent, Medical College Hospital, Pondicherry for permission to make use of the Hospital records.
| References|| |
Conway, H, (1956) Tumours of the skin, p. 115-127. Charles C. Thomas, U.S.A.
Duke-Elder S, (1952) Text Book of Ophthalmology, Vol. V, P. 5054, Henry Kimpton, London.
King H, & Hamilton, C. M. (1940), Arch. Derm. Syph. 42, 570.
Lynch, F. W. (1934) Arch Derm. Syph. 29, 858.
Mackenna R.M.B. (1952) Diseases of the, skin, p. 553, Bailliere Tindall & Cox, London.
Ornsby, O. S. & Montgomery, H. (1954). Diseases of the skin p. 864, Lea & Febiger, Philadelphia.
Saeobo, J, (1948), Brit J. Ophthal. 32, 398-411.
Sorsby, A., (1963), Clinical Genetics, p. 217-218, Butterworth & Co., Ltd., London.
[Figure - 1], [Figure - 2], [Figure - 3], [Figure - 4], [Figure - 5], [Figure - 6], [Figure - 7], [Figure - 8], [Figure - 9]