Xeroderma pigmentosum: a case series with ocular involvement

Authors

  • Vasudha A. Belgaumkar Department of Skin and VD, B.J.G.M. College, Pune, Maharashtra, India
  • Ravindranath B. Chavan Department of Skin and VD, B.J.G.M. College, Pune, Maharashtra, India
  • Aarti S. Salunke Department of Skin and VD, B.J.G.M. College, Pune, Maharashtra, India
  • Pallavi P. Patil Department of Skin and VD, B.J.G.M. College, Pune, Maharashtra, India

DOI:

https://doi.org/10.18203/issn.2455-4529.IntJResDermatol20175381

Keywords:

Xeroderma pigmentosum, Opthalmohelioses, Malignancy

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.

Author Biographies

Vasudha A. Belgaumkar, Department of Skin and VD, B.J.G.M. College, Pune, Maharashtra, India

Dept of Skin and VD, BJGMC, Pune

Ravindranath B. Chavan, Department of Skin and VD, B.J.G.M. College, Pune, Maharashtra, India

Dept of Skin and VD, BJGMC, Pune

Aarti S. Salunke, Department of Skin and VD, B.J.G.M. College, Pune, Maharashtra, India

Dept of Skin and VD, BJGMC, Pune

Pallavi P. Patil, Department of Skin and VD, B.J.G.M. College, Pune, Maharashtra, India

Department of Skin and VD , BJGMC, Pune

References

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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.

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Published

2017-11-23