Trichilemmal Carcinoma in a Patient With Oculocutaneous Albinism

TL;DR

A patient with oculocutaneous albinism developed trichilemmal carcinoma and metastatic skin cancer, highlighting the need for close monitoring in this high-risk group.

Contribution

This case report adds to the understanding of skin cancer risks in individuals with oculocutaneous albinism.

Findings

Trichilemmal carcinoma was diagnosed in a patient with oculocutaneous albinism and a history of multiple skin cancers.

The patient also had metastatic squamous cell carcinoma and was treated with pembrolizumab.

Successful surgical excision of the trichilemmal carcinoma with clear margins was achieved.

Abstract

Trichilemmal carcinoma (TC) is a rare adnexal neoplasm derived from the outer sheath of the hair follicle. Despite its aggressive histological features, TC typically exhibits low-grade clinical behavior, with local recurrences being more common than metastasis. This case report describes a 47-year-old Hispanic female with oculocutaneous albinism and a history of numerous nonmelanoma skin cancers (NMSCs) who presented with an erythematous papule on her forearm. Histopathology revealed TC characterized by basaloid keratinocytes with clear cytoplasm and peripheral palisading and a high proliferation rate confirmed by Ki-67. Surgical excision with 1.0 cm margins was performed, and final histopathology showed no residual tumor. Concurrently, the patient was diagnosed with metastatic squamous cell carcinoma (SCC) and started on pembrolizumab. This case highlights the increased susceptibility of individuals with oculocutaneous albinism to multiple and varied skin malignancies, stressing the need for vigilant skin surveillance and a broad differential diagnosis in this population. The patient's history underscores the importance of early detection and intervention to manage and mitigate the risk of advanced skin cancers.

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