• Users Online: 4708
  • Home
  • Print this page
  • Email this page

   Table of Contents      
Year : 1990  |  Volume : 38  |  Issue : 2  |  Page : 94-96

Xeroderma pigmentosum (case report)

Eye Deptt. J.A. Hospital, Gwalior, India

Correspondence Address:
Arvind Kumar Dubey
Lecturer in Ophthalmology , Eye Deptt. J.A. Hospital, Gwalior
Login to access the Email id

Source of Support: None, Conflict of Interest: None

PMID: 2387609

Rights and PermissionsRights and Permissions

Xeroderma pigmentosum is a rare, hereditary and fatal disease of the skin. Ocular involvement is known to occur in 80% of cases. A case with typical cutaneous and ocular lesions is reported.

How to cite this article:
Dubey AK, Nagar M, Gupta A, Sahu D, Mishra S. Xeroderma pigmentosum (case report). Indian J Ophthalmol 1990;38:94-6

How to cite this URL:
Dubey AK, Nagar M, Gupta A, Sahu D, Mishra S. Xeroderma pigmentosum (case report). Indian J Ophthalmol [serial online] 1990 [cited 2022 Dec 6];38:94-6. Available from: https://www.ijo.in/text.asp?1990/38/2/94/24529

  Introduction Top

Xeroderma pigmentosum is a rare hereditary and fatal precancerous condition of the skin. Ocular involvement is reported in 80% of cases. We report a case with almost all typical features in the skin and eyes.

  Case report Top

K.J. 7 1/2 years old female child was brought to us with complaints of a mass coming out of her left eye. The mass was of three months duration and bled off and on.

  History Top

The child was born normally and was normal in all respects till the age of 5 years, thereafter she developed roughness of the skin surface and pigmented spots. Such pigmented spots developed gradually all over the body and three months ago she developed a small mass protruding out of the left eye which has been bleeding on touch and has increased in size.

The child was born to a Muslim couple and her parents are first cousins to each other. She is the only child and such a disease has been unknown in the families of both the parents.

  General examination Top

The child was thin built, irritable and resented light, she was however intelligent and mentally mature for her age.

All over the skin hyperpigmented spots varying in size from 2-4 mm. in diameter and slightly raised above the surface were present. The spots had no definite shape, some were oval, while others were irregular in shape. Spots were denser both in colour and distribution over cheeks, temples and extensor aspects of the upper and lower extremities; nevertheless spots --9 present all over the body including the trunk and back.

A lightly pigmented warty outgrowth was present on the face just below the lower lip on the left side, containing a hair on it.

Teeth were stunted, chalky white in colour and rather widely separated.

Examination of central nervous system, respiratory sys­tem and cardio vascular system did not show any ab­normality.

Child was afebrile and had poor appetite.

  Ocular examination Top

RIGHT EYE : Both the lids had similar pigmentation as on skin elsewhere. There was slight ectropion of lower lid with scanty lashes. Conjunctiva contained a leash of dilated vessels in the lateral half of the palpebral fissure encroaching upon a macular opacity occupying the tem­poral quadrant of the cornea. Iris and lens were normal.

The posterior segment was normal. Ocular movements were full, there was moderate photophobia. The visual acuity could not be recorded as the child was un­cooperative. She could, however, move around without assistance. [Figure - 4][Figure - 5].

LEFT EYE A tumor mass about 1.5 cms. X0.75 cms. containing slough on its surface and bleeding on touch was found to be originating from the lower fornix with a peduncle.

The tumor covered and involved more than the lower half of the cornea, other structures could not be ex­amined due to severe photophobia, pain, bleeding and irritability. Both the lids had pigmented spots and the lower lid was everted and had only a few lashes. The growth was removed and histopathology showed it to be a squamous cell carcinoma. [Figure - 5][Figure - 6][Figure - 7].

  Discussion Top

Xeroderma pigmentosum was first described by Moriz Kaposi, a Hungarian dermatologist in 1879, since then some 550 cases have been reported.

The disease has a marked hereditary tendency and is transmitted as an autosomal trait. It is frequent after consanguineous marriage and there is evidence that sex linked transmission also takes place.

The disease becomes clinically overt within the first few years of life starting as erythema and development of freckles over the exposed areas of skin. Small telangiectasis are common in the early stages. Finally there is the appearance of isolated or coalescent patches of keratosis showing varying amount of pigmentation. This may be followed by development of warty growths which may finally ulcerate and convert into squamous or basal cell carcinoma.

Hair and nails are usually normal, but they may be defective.

The disease is invariably fatal and death occurs within a few years of its onset.

In the case reported here almost all these features were present excepting a frank carcinoma of the skin. The warty growth on the face had a hair on it which has not been described before.

The ocular lesions which have been described are, ectropion, destruction of lower lids, symblepharon, pig­mented macules on the conjunctiva, conjunctival ulcers, phlyctenule like lesions, vascular pterygium, corneal opacities and finally carcinomatous growths. Changes in the iris have been reported but a definite relationship has not been established.

In the case reported here, all these features are present along with a pedunculated malignant growth coming from the lower fornix.

Aetiologically it has been suggested that the essential abnormality is increased sensitivity to light, yet the na­ture of this photosensitivity has not been understood.

It is suggested that DNA damaged by ultraviolet light is not repaired in the affected children. This observation has been made between 280 to 310 nm wavelengths.

Metabolic defects have been suggested as an aetiologi­cal possibility. Gross aminoacidemia has been reported in 25% of cases. Tyrosine excretion has been found to be low in some cases; while in other cases an increase in serum glutamic acid transaminase and high alpha globulinemia have been reported.

In the case reported here, there was no aminoacidemia, blood tyrosine levels were found to be normal so also the serum alpha globulin levels.

The suggested treatment is protection from light, and application of Titanium Oxide in a vanishing cream base to lessen the risk of further epitheliomata. Oral chloro­quine has been found to be useful. All tumors should be adequately excised at the earliest opportunity[3].

  References Top

DUKE ELDER - SYSTEM OF OPHTHALMOLOGY Vol.8 Part­I.Henry Kimpton 1965 Page 551.  Back to cited text no. 1
GILLER AND KUFMANN-Arch.of Ophthalmology 62.113 1959.   Back to cited text no. 2
MATHUR- Ophthalmologica 140, 33 - 1960  Back to cited text no. 3


  [Figure - 1], [Figure - 2], [Figure - 3], [Figure - 4], [Figure - 5], [Figure - 6], [Figure - 7]


    Similar in PUBMED
   Search Pubmed for
   Search in Google Scholar for
    Access Statistics
    Email Alert *
    Add to My List *
* Registration required (free)  

  In this article
Case report
General examination
Ocular examination
Article Figures

 Article Access Statistics
    PDF Downloaded0    
    Comments [Add]    

Recommend this journal