Synchronous Squamous and Basal Cell Carcinoma in Oculocutaneous Albinism: A Rare Co-occurrence

Abstract

Oculocutaneous albinism (OCA) is a rare autosomal recessive disorder characterized by generalized deficiency of melanin pigment, which normally protects against ultraviolet (UV) radiation–induced DNA damage. Consequently, affected individuals are predisposed to cutaneous malignancies, most commonly squamous cell carcinoma (SCC), whereas basal cell carcinoma (BCC) occurs less frequently. The synchronous occurrence of SCC and BCC in a single patient with OCA is exceedingly uncommon.
We report a 41-year-old male with OCA who presented with ulcerated lesions over sun-exposed areas. Histopathological examination revealed two distinct tumors. One lesion showed features of SCC with nests and sheets of malignant squamous cells demonstrating nuclear pleomorphism and keratinization, and tumor cells exhibited strong nuclear positivity for p40 (ΔNp63 isoform of p63), confirming squamous differentiation. The second lesion demonstrated basaloid tumor nests with peripheral palisading and stromal retraction clefts, consistent with BCC, and showed cytoplasmic positivity for B-cell lymphoma 2 (BCL-2).
This case highlights the importance of careful clinical evaluation, histopathological examination, and immunohistochemistry in identifying synchronous malignancies in OCA. Early diagnosis and strict photoprotective measures are essential to reduce morbidity in individuals genetically susceptible to UV-induced skin cancers.