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<p>Oculocutaneous albinism (OCA) is an autosomal recessive disease characterized by the deficiency of the tyrosinase enzyme involved in melanin synthesis. The deficiency of melanin in these patients increases the risk of sun&#xa0;exposure&#xa0;induced cancers. Herein, we report the rare case&#xa0;of multiple basal cell carcinomas (BCCs) with co-occurrence squamous cell carcinoma (SCC) in a patient with OCA. The patient was a 35-year-old male with multiple nodules and plaques all over the body for the last 10&#xa0;years. He visited the&#xa0;outpatient department with chief complaints of progressively growing bleeding nodules over the arm, left upper chest, and forehead. He had milky white skin and silvery hair all over his body, including the eyelids. The biopsy of the patient was reported as multiple-site basal cell carcinoma with co-occurrence of squamous cell carcinoma over the right forearm. Oculocutaneous albinism is a known risk factor for the onset of cutaneous skin cancers. Although the most common type is SCC, the occurrence of BCC is not very uncommon. Understanding the histopathological types of BCC and SCC helps to further manage patients with OCA.</p>

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Unveiling the Cutaneous Carcinoma Enigma in Oculocutaneous Albinism: A Case Report

  • 期刊论文

  • 发表日期：

    2025年5月5日

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  • Varsha Vijayalal Kalambul,
  • Santosh Tummidi,
  • Bibhas Saha Dalal,
  • Gaurab Ranjan Chaudhuri,
  • Devayani Chaudhuri,
  • Aiusee Nasreen Pooja

摘要

Oculocutaneous albinism (OCA) is an autosomal recessive disease characterized by the deficiency of the tyrosinase enzyme involved in melanin synthesis. The deficiency of melanin in these patients increases the risk of sun exposure induced cancers. Herein, we report the rare case of multiple basal cell carcinomas (BCCs) with co-occurrence squamous cell carcinoma (SCC) in a patient with OCA. The patient was a 35-year-old male with multiple nodules and plaques all over the body for the last 10 years. He visited the outpatient department with chief complaints of progressively growing bleeding nodules over the arm, left upper chest, and forehead. He had milky white skin and silvery hair all over his body, including the eyelids. The biopsy of the patient was reported as multiple-site basal cell carcinoma with co-occurrence of squamous cell carcinoma over the right forearm. Oculocutaneous albinism is a known risk factor for the onset of cutaneous skin cancers. Although the most common type is SCC, the occurrence of BCC is not very uncommon. Understanding the histopathological types of BCC and SCC helps to further manage patients with OCA.