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Abstract

Advancements in Case Studies

Basal Cell Carcinoma in a Filipino with Oculocutaneous Albinism:A Case Report

Submission:October 03, 2022; Published: October 31, 2022

DOI: 10.31031/AICS.2022.03.000569

ISSN 2639-0531
Volume3 Issue4

Abstract

Background: Oculocutaneous albinism (OCA) is an autosomal recessive disorder characterized by defects in melanin synthesis that affect the skin, eyes, and hair. This melanin deficiency causes albino patients to be at a higher risk for sun-induced skin cancers. Herein, this report highlights the rare occurrence of basal cell carcinoma (BCC) in a Filipino with oculocutaneous albinism.
Case: A 25-year-old Filipino female presented with a 1-year history of a keratotic plaque on the neck. She had milky-white skin, silvery hair, and blue eyes at birth that gradually darkened with age with progressive photosensitivity and photophobia. No family history of albinism nor consanguineous marriage was noted. Physical examination revealed a fair-skinned patient with brown hair, gray-tinted irises, marked nystagmus, and decreased visual acuity. Clinical and genetic counseling was done leading to the diagnosis of OCA IB. In addition to this, an erythematous keratotic plaque on the left side of the neck was noted and upon dermoscopy, short fine telangiectasias, ulceration and yellow crusts were seen. Skin biopsy was done that showed tumor islands with atypical basaloid cells and a retraction artifact diagnostic of nodular BCC. She underwent Mohs micrographic surgery for her BCC, was recommended to follow-up regularly for screening, and was advised strict sun protection.
Conclusion: The hypopigmented skin of this patient with oculocutaneous albinism predisposed her to severe skin damage that led to the development of basal cell carcinoma. Due to melanin deficiency, it is recommended to closely observe, regularly follow-up, and advise strict sun protection as early as possible to prevent skin cancer in this population.

Keywords:Oculocutaneous albinism, basal cell carcinoma, squamous cell carcinoma, melanin, Nonmelanoma skin cancer, Mohs micrographic surgery, ultraviolet

Abbreviations:OCA: Oculocutaneous Albinism; BCC: Basal Cell Carcinoma; UV: Ultraviolet; NMSC: Nonmelanoma Skin Cancer; H&E: Hematoxylin & Eosin

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