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Case Reports
. 2008 Sep-Oct;56(5):421-3.
doi: 10.4103/0301-4738.42423.

Orbital amelanotic melanoma in xeroderma pigmentosum: a rare association

Syed Ar Rizvi  1 , Abadan K Amitava, Ghazala Mehdi, Rajeev Sharma, Mohammad S Alam
Affiliations
Case Reports

Orbital amelanotic melanoma in xeroderma pigmentosum: a rare association

Syed Ar Rizvi et al. Indian J Ophthalmol. 2008 Sep-Oct.

Abstract

Xeroderma pigmentosum (XP) is an autosomal recessive genetic disorder of DNA repair in which the body's normal ability to repair damage caused by ultraviolet light is deficient. This leads to a 1000-fold increased risk of cutaneous and ocular neoplasms. Ocular neoplasms occurring in XP in order of frequency are squamous cell carcinoma, basal cell carcinoma and melanoma. Malignant melanomas occur at an early age in patients with XP. We report a case of XP with massive orbital melanoma in an eight-year-old boy which is unique due to its amelanotic presentation confirmed histopathologically.

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Figures

Figure 1A
Figure 1A
(A) Lower lid ectropion and macular corneal opacity in right eye of a xeroderma pigmentosum patient one year back.
Figure 1B
Figure 1B
(B) A large orbital growth in the left eye of a xeroderma pigmentosum patient
Figure 2
Figure 2
Photomicrograph showing sheet of plump epitheloid tumor cells with large nuclei and prominent nucleoli. Melanin is absent in tumor cells (H&E, ×400)
See this image and copyright information in PMC

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References

    1. Mseddi M, Sellami D, Elloumi Y, Aloulou Y, Kammoun B, Turki H, et al. Ophthalmologic manifestations of the xeroderma pigmentosum. Tunis Med. 2006;84:542–4. - PubMed
    1. El-Hafrawi H, Mortada A. Ocular manifestations of xeroderma pigmentosum. Br J Dermatol. 1965;77:261–76. - PubMed
    1. Kraemer KH, Lee M, Scotto J. Xeroderma Pigmentosum-cutaneous, ocular and neurologic abnormalities in 830 published cases. Arch Dermatol. 1987;123:241–80. - PubMed
    1. Hebra F, Kaposi M. On diseases of the skin including exanthemata. New Sydenham Soc. 1874;61:252–8.
    1. Robbin JH, Kraemer KH, Lutzner MA, Festoff BW, Coon HP. Xeroderma pigmentosum: An inherited disease with sun sensitivity, multiple cutaneous neoplasms and abnormal DNA repair. Ann Intern Med. 1974;80:221–48. - PubMed

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