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Article
August 1974

Ocular Manifestations of Xeroderma Pigmentosum in a Black Family

Author Affiliations

Boston; New Haven, Conn; Deschapelle, Haiti; New Haven
From the Department of Ophthalmology and Visual Science, Yale University School of Medicine, New Haven, Conn (Drs. Lahav and Albert); the Hopital Albert Schweitzer, Deschapelle, Haiti, West Indies (Dr. Lepreau); and the Howe Laboratory of Ophthalmology, Harvard Medical School and the Massachusetts Eye and Ear Infirmary (Dr. Bellows).

Arch Ophthalmol. 1974;92(2):113-117. doi:10.1001/archopht.1974.01010010119007
Abstract

Xeroderma pigmentosum occurred in three siblings of a black family in Haiti. One affected child developed a fungating mass that obscured the cornea and limbus. The lesion recurred after two excisional biopsies, and enucleation was performed. Microscopical examination of the biopsy lesion and the involved area of the enucleated globe showed similar findings: exuberant granulation tissue, inflammation, acanthosis, and dysplasia of the epithelium. An important additional feature was the presence of atypical cells with notable pleomorphism at the base of the corneal lesion. Scalp nodules excised from two of the children were infiltrative squamous cell carcinoma. The fungating corneal lesion demonstrated in this report differs greatly from the pterygium-like growths, pannus-like infiltrates, hyperkeratotic changes, and carcinomatous processes previously described, which arise from the ocular tissues of patients with xeroderma pigmentosum.

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