|Year : 1972 | Volume
| Issue : 1 | Page : 31-33
Xeroderma pigmentosum with ocular involvement in a Nepali
GC Sood, BK Sofat, RD Chandel, Sardari Lal, KB Logani
Department of Ophthalmology, Dermatology & Venereology and Pathalogy, Himachal Pradesh Medical College, and Snowdon Hospital, Simla, India
G C Sood
Department of Ophthalmology, Dermatology & Venereology and Pathalogy, Himachal Pradesh Medical College, and Snowdon Hospital, Simla
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Sood G C, Sofat B K, Chandel R D, Lal S, Logani K B. Xeroderma pigmentosum with ocular involvement in a Nepali. Indian J Ophthalmol 1972;20:31-3
Xeroderma pigmentosum is a rare precancerous dermatosis. Over 500 cases have been reported in the literature from different parts of the World (Duke Elder  ). Reviewing the literature thoroughly we have not come across any reference from Nepal, a Himalayan Kingdom. We recently saw the condition in a Nepali which is being reported here.
| Case Report|| |
S. R. aged 23 yrs. Hindu male resident of Rolpa Distt. in Eastern Nepal was brought to Eye OPD of HP. Medical College Hospital Snowdon on 8.1.71 with the complaints of photophobia, ocular discomfort and marked diminution of vision in both eyes for the past 11 years. He gave history of frequent exacerbations and remissions of the ocular symptoms. 11 years earlier, the patient noticed appearance of black spots on various parts of the body, more so on the face and exposed portion of the extremities. His eye condition gradually became worse over the years, incapacitating him from carrying out his daily routine of attending to his land. There was no history of similar ailment and consanguinity in the family.
The patient was found to be fairly well built and in good physical health. Multiple hyperpigmented and atrophic hypopigmented macules of variable size were seen scattered over the skin of the face including that of the lids, extremities and the trunk. There were areas of depigmentation on the lower lip and the chest. [Figure - 1]
Examination of the right eye revealed moderate degree of conjuctival and ciliary conjestion with a raised fleshy mass of about 10 mm x 4 mm on nasal limbus in the interpalpebral area. Cornea showed a generalised haze in the central and lower part with a raised greyish vascularised patch on the medial side and superficial ulceration. Anterior chamber, pupil, iris as far as could be seen appeared normal. Left eye showed similar changes except that the fleshy mass on the nasal side of the limbus encroached on to the cornea for a distance of about 2 mm. Vision was reduced to perception and projection of light in the right eye and finger counting at three feet in the left eye.
Total and differential counts and hemoglobin estimation were found to be within normal limits. Erythrocyte sedimentation rate was 18 mm first hour (Wester green) V. D. R. L. was negative. Urine analysis showed no abnormality. His blood group was A.
Skin biopsy from chest revealed thin and atrophic epidermis at places with atrophy of its adnexa. There were areas of acanthosis and hyper-keratosis. The basal layer showed diffuse malamin pigmentation with melanophores in the upper dermis.
Pterygium like growth from the left eye was excised and sent for histological examination. Biopsy showed stratified squamous epithelium with sub-epithelial dense collagenous and loose areolar tissue infiltrated with mono-nuclear cells. In a portion of the section hylanised connective tissue with calicification was also seen. Junctional limbal epithelium showed presence of melamin. [Figure 2]
The patient was put on atropine 1% eye drops, antibiotic (Soframycine) eye ointment with bandage to both eyes. He was also given multivit tablets and high protein diet. His eye condition steadily improved and on 17.371 the conjunctival hyperaemia had became much less, the fleshy looking mass had considerably regressed, the corneal vascularisation had lessened and corneal ulcers had healed leaving behind nabular opacities. Vision improved to finger counting at 3 meters in each eye. The patient was discharged on 17.4.71 with advice to use Soframycine eye ointment daily in both eyes at bed time use of sun goggles, and to remain indoors as far as possible.
| Discussion|| |
Xeroderma pigmentosum is a disease of uncertain etiology although it has been presumed to be due to some chemical disturbance in the surface epithlium (Duke Elder  ) and attributed to multiple aminoacidurea (El Hefnavi et al , ) or the presence of porphyrins (IIehregan  ),
Xeroderma pigmentosum is supposed to be transmitted as an autosomal recessive heredity (Ruder  , (Duke Elder  ) and is seen most frequently in products of consanguinous marriages (Cocckayne  Bauer  , El-Ilefnavi et al  ) In our case there was absolutely no history of consanguinity among the parents indicating that consanguinity after all does not play that dominant a role as has been so frequently emphasised.
Ocular involvement in Xeroderma pigmentosum is frequent, lids are affected in about 80% of cases (Duke Elder -1965) which may result in atrophy and complete disappearance of the lower lid with resultant complications of exposure. Other ocular manifestations reported are corneal ulceration (Greeff  -) Velhagen  -, Reese and Wilber- 1943) hyperaemia of conjunctiva, intense photophobia, angiamata and carcinomata of the conjunctiva, pigmented patches of conjunctiva (Markowitz- 1935), phlycten or pterygium like growths, symblepheron (Mathur  -) In our case ocular involvement was bilateral in the form of pigmented spots over the skin of the lids, conjunctival hyperaemia, pterygium like growth, superficial corneal ulceration and vasucularization. There was no evidence of any malignant change although ocular involvement was there for the last 11 years.
| Summary|| |
A case of Xeroderma pigmentosum in a Nepali is reported. This is probably the first case to be reported fom Nepal. Skin and conjunctival biopsies are described.
| References|| |
Bauer, Hd. d Erbbiol, Berlin, 4(2), 1142 (1940). Cited by Duke Elder-in 3
Cocckayne Inherited, abnormalities of the skin, London (1933). Cited by Duke Elder-in 3
Duke Elder. S., "System of Ophthalmology", Diseases of the outer Eye part I P. 551, Pub. Henry Kimpton. London, 1965.
El-Hefnavi, H. El-Hefnavi, M. and ElHawary, MFS. Xeroderma pigmentosum 111. Studies of serum copper and blood glutathione. Brit. J. Derm. 74. 218-221, 1962.
El-Hefnavi, H. and El-Hawary, MFS. Chromatographic studies of aminoacids in the sera and urine of patients with Xeroderma pigmentosum and their normal relatives. Brit. Jour. Derm 75:235-244, 1963.
Greeff. Arch. Augenheilg 42, 99 (1901) Cited by Duke Elder in 3.
Mehregan, A. M. Dermatitis solaris related to Xeroderma Pigmentosum. Arch. Derm. 87: 469-474, 1963.
Markowitz.Arch. Derm., Syph. (Chicago) 37, 343 (1935).
Mathur. Ophthalmolgica, 140, 333, (1960). Cited by Duke Elder-in 3.
Ruder. Ueber Epithelcarcinom. d. Hautbei Mehreren Kinder einer Familie (Diss.) Berlin (1880) Cited by Duke Elder-in 3.
Velhagen. Arch. Augenheilk, 46, 232 (1903). Cited by Duke Elder-in 3.
[Figure - 1]