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Year : 1967  |  Volume : 15  |  Issue : 6  |  Page : 233-235

Ocular involvement in xeroderma pigmentosum

Department of Ophthalmology, Medical College, Rohtak, Haryana, India

Date of Web Publication22-Jan-2008

Correspondence Address:
G C Gulati
Department of Ophthalmology, Medical College, Rohtak, Haryana
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How to cite this article:
Gulati G C, Ahluwalia B K. Ocular involvement in xeroderma pigmentosum. Indian J Ophthalmol 1967;15:233-5

How to cite this URL:
Gulati G C, Ahluwalia B K. Ocular involvement in xeroderma pigmentosum. Indian J Ophthalmol [serial online] 1967 [cited 2023 Dec 3];15:233-5. Available from: https://journals.lww.com/ijo/pages/default.aspx/text.asp?1967/15/6/233/38815

Xeroderma Pigmentosum is also called Atrophoderma Pigmentosa by some or lentigo maligna by others. Stress has been laid by most of the people on the fact that the disease tends to occur in several members of the family, transmission being of a re­cessive character and occurs in fami­lies where consanguinous marriages are common (SOEBE, 1948).

Though the disease is rare, few cases have been reported from Andhra Pra­desh (Hyderabad) by SIVA REDDY (1957), MISRA (1963) from Pondi­cherry and by others. In Haryana the consanguinity of marriage is not com­mon, therefore, as would be expected the disease is rare. In the case being re­ported from Haryana, there is no evi­dence of familial tendency nor is there any history of consanguinous marriage.

It is a lethal precancerous affliction, primarily of the skin and mucous membranes. It was first reported by KAPOSI (1870). It mostly affects the whites but cases have been reported from Africa and United States of America (KING and HAMILTON, 1940). The etiological factor is presum­ed to be the reaction of the surface epithelium to some abnormal organic or chemical disturbance within the body leading to an inborn hypersensi­tivity to the ultraviolet rays.

These cases of Xeroderma pigmen­tosum usually go to dermatologists or a surgeon because face, scalp, neck, forearms or dorsum of hands initially show freckles in these exposed areas as the surface epithelium of these areas becomes extremely sensitive to sunlight. The ophthalmologist comes into the picture when conjunctiva or lids are affected first or the mother brings the child on account of photophobia, irritable eyes or unusual tendency to freckles or sunburn on the lids or roundabout the eyes. Sometimes such children are dismissed as cases of con­junctivitis which drag on for months and months or even till adolescence when extensive pigmentation appears followed by papillomatous or carcino­matous growth. Occasionally ophthal­mic surgeons get associated in this study when such a case is referred for blepharitis, madarosis, entropion, ect­ropion or atrophy of lids leading to exposure keratitis.

  Case Report Top

A 10-year-old boy, was admitted on August 30, 1965, with spotty pigmen­tation all over the body for the last one year followed by rapidly growing swellings over the right lower lid, cheek, and nape of the neck, of 40 days' duration. In addition, generalis­ed itching, intolerance to sunlight, de­fective vision and watering from both eyes developed about a month back. A careful survey revealed neither family history nor consanguinity in the parents. He had one brother aged 12 years and one sister aged 6 years both of whom were healthy.

General physical examination show­ed a moderately built and moderately nourished child. The patient was ap­prehensive of torch-light as it led to watering of eyes, photophobia, and sneezing. The skin showed numerous macular, and papular dark patches of variable sizes, interspersed with dry, depigmented, and scaly grayish areas, especially on the face, upper part of the trunk, neck and arms [Figure - 1]. At places the areas appeared to be red due to telangiectases. The lips were dry, crusted and pigmented. A few areas of ulceration and dark crusting were present on the face and nose along with scarring of the skin of the nose and infraorbital region. A grayish red 5 x 5 mm warty growth was pre­sent on nape of the neck besides a rounded swelling 6 x 5 x 2.5 cm in size with flat top and everted edges, aris­ing from the right lower lid and infra­orbital region. [Figure - 2].

On local examination, both eyes showed similar changes: Bulbar conjunctiva was dry and hyperemic with a few pigmented spots and pseudo­pterygium. Lower lids showed mada­rosis and cicatricial ectropion leading to exposure keratitis. Visual acuity could not be assessed as the child was not co-operative.

Laboratory data showed an erythro­cyte sedimentation rate of 100 mm 1st hour Westergreen, hemoglobin of 10.5 gm% and a white blood cell count of 11,500 with a normal differential count.

The serological tests for syphillis, urinalysis, and skiagram of the orbits were negative. On September 14, 1965, excision of the growths on the lid and the neck was undertaken. The histo­pathological report revealed malignant melanoma. The patient was treated with heavy doses of vitamin A, topical instillation of eye drops and was fur­ther advised to remain indoors during the daytime. It was also suggested to him to use dark glasses, wear full sleeved shirt and full length pajamas to avoid exposure to sunlight.

  Discussion Top

Children suffering from xeroderma pigmentosum have normal skin at birth, but by second year, when expos­ed to sunlight, they develop acute erythema followed by freckles on the exposed parts of the body. Our case also exhibited scattered pigmentation particularly on the face, neck, upper part of the trunk and arms. The dis­ease is usually inherited and recessive, tending to affect the children of con­sanguinous marriages. There was nei­ther family history of the disease nor history of consanguinity in the parents in our case.

It is said that the freckles tend to disappear in winter, only to reappear in summer, but eventually these changes become permanent. But in our case, no such seasonal variations were elicited. Regenerative changes occur in the form of atrophic, dry, scaly, white spots, in between the dark freckles as happened in our case.

These are usually followed by super­ficial ulceration of warty growths. The disease reaches its height by sixth or seventh year. Some of the keratotic areas often undergo malignant change in the form of a basal or squamous cell carcinoma; rarely sarcomas and melanomas may occur (van PALTAR and DRUMMAND, 1953). The com­monest sites for malignancy are cir­cum-orbital and circumoral regions, though occasionally a squamous-cell epithelioma may develop at the lim­bus. Our case had a malignant mela­noma, of the right lower lid and in­fraorbital region which was again unusual in the same way as lack of familial tendency.

On the other hand, common features like, photophobia, tearing, ectropion of the lower lid, loss of cilia, conjunc­tivitis, exposure keratitis and pseudo­pterygium were all present in our case.

Rarely iritis, iris atrophy and abnor­mal pigmentation of the iris, mental degeneration, epilepsy, deafness, and joint malformations have been des­cribed, but were all absent in our case.

  Summary Top

An unusual case of xeroderma pig­mentosum with no hereditary or fami­lial tendency is described. The malign­ancy which developed in our case appeared within one year in the form of melanoma which is of rare occur­rence.[7]

  References Top

COCKAYNE, E. A. (1933). "Inherited Ab­normalities of the Skin and its Append­ages," Oxford, London.  Back to cited text no. 1
KAPOSI, M. (1875). "Pathology and Treat­ment of disease of Skin," Bailliere Tindal and Cox, London.  Back to cited text no. 2
KING H. and HAMILTON L. M., (1940), Arch. Dermat. Syphilis, 42: 570.  Back to cited text no. 3
MISRA M. C. (1963), J. All-India Ophthl. Soc. 11, 62.  Back to cited text no. 4
REDDY, P. S. and REDDY, D. B. (1957). Indian J. Dermat. Vener. 23, 167.  Back to cited text no. 5
VAN PALTER. H. T. and DRUMMAND, J. A. (1953). Cancer, 6, 942.  Back to cited text no. 6
SOEBE, (1948). Brit. J. Opthal, 32, 398.  Back to cited text no. 7


  [Figure - 1], [Figure - 2]


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