ArticleJournal of maxillofacial and oral surgery2024
Xeroderma Pigmentosum with a Rapidly Proliferating Squamous Cell Carcinoma in a 4-Year Old Kid: A Rare Entity in Indian Subcontinent.
Article in Journal of maxillofacial and oral surgery, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Xeroderma pigmentosum is a rare autosomal recessive genetic disorder, affecting nucleotide excision repair against ultraviolet radiation. This genodermatosis (a hereditary skin disorder) is distinguished by photosensitivity, alterations in cutaneous pigmentation, premature aging of the skin, and the typically observed onset of cutaneous and internal malignancies towards the conclusion of the first decade of life. In this article, we present a case involving a 4-year-old girl from North India who was born to non-consanguineous parents and developed an extensive fungating growth on her face. Subsequent diagnosis revealed the presence of squamous cell carcinoma, resulting in significant facial disfigurement. While xeroderma pigmentosum is a recognized condition, its occurrence in India, particularly in the northern region, is relatively rare. This report also underscores a noteworthy observation-the emergence of a cutaneous malignancy at such a tender age.
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