DOI: http://dx.doi.org/10.18203/issn.2455-4529.IntJResDermatol20175381

Xeroderma pigmentosum: a case series with ocular involvement

Vasudha A. Belgaumkar, Ravindranath B. Chavan, Aarti S. Salunke, Pallavi P. Patil

Abstract


Xeroderma pigmentosum (XP) is a rare, autosomal recessive disease caused by a defect in DNA repair. Patients with xeroderma pigmentosum often have cutaneous and ocular photosensitivity, freckle-like skin pigmentation, multiple skin and eye cancers, and, in some patients, progressive neurodegeneration. Xeroderma pigmentosum predominantly affects the UV exposed ocular surface, resulting in eyelid atrophy and cancers, corneal dryness, exposure keratopathy, and conjunctival tumors. Hereby, we report four cases of XP with ocular pathology. First case had ectropion, corneal abrasion, keratomalacia, and necrotic ulcer in periorbital area and second case had corneal opacity, conjuctival erythema and photophobia. The other two cases were siblings of second patient who also had photophobia. These cases illustrate the role of DNA repair in protection of the eyes from UV damage.


Keywords


Xeroderma pigmentosum, Opthalmohelioses, Malignancy

Full Text:

PDF

References


Brooks BP, Thompson AH, Bishop RJ, Clayton JA, Chan CC, Tsilou ET, et al. Ocular manifestations of xeroderma pigmentosum: Long-term follow-up highlights the role of DNA repair in protection from sun damage. Ophthalmology. 2013;120(7):1324–36.

Ramkumar HL, Brooks BP, Cao X, Tamura D, DiGiovanna JJ, Kraemer KH, et al. Ophthalmic manifestations and histopathology of xeroderma pigmentosum: Two clinicopathological cases and a review of the literature. Survey of Ophthalmology. 2011;56:348–61.

Zafar SN, Khan A, Rubab S, Zafar N. Ocular manifestations of xeroderma pigmentosum. Br J Dermatol. 1965;77(3):550–3.

Johnson MW, Skuta GL, Kincaid MC, Nelson CC, Wolter JR. Malignant melanoma of the iris in xeroderma pigmentosum. Arch Ophthalmol. 1989;107(3):402–7.

Das JK, Gangopadhyay AK. Pigmented xerodermoid--report of three cases. Indian J Dermatology, Venereol Leprol. 2005;71:41–3.