Year : 1967 | Volume
: 15 | Issue : 6 | Page : 233--235
Ocular involvement in xeroderma pigmentosum
GC Gulati, BK Ahluwalia
Department of Ophthalmology, Medical College, Rohtak, Haryana, India
G C Gulati
Department of Ophthalmology, Medical College, Rohtak, Haryana
|How to cite this article:|
Gulati G C, Ahluwalia B K. Ocular involvement in xeroderma pigmentosum.Indian J Ophthalmol 1967;15:233-235
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Gulati G C, Ahluwalia B K. Ocular involvement in xeroderma pigmentosum. Indian J Ophthalmol [serial online] 1967 [cited 2013 May 25 ];15:233-235
Available from: http://www.ijo.in/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.
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.
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.
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.
|1||COCKAYNE, E. A. (1933). "Inherited Abnormalities of the Skin and its Appendages," Oxford, London.|
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