Xeroderma pigmentosum in an Indian patient with a novel genetic mutation

Xeroderma pigmentosum (XP) is a rare DNA repair disorder characterized by hypersensitivity to ultraviolet light and increased risk of skin malignancies. We report a 12-year-old boy presenting with an ulcerated lesion over the nasal bridge with photosensitivity and freckling with no neurological or ocular complaints. Dermoscopy from ulcerated plaque showed keratotic plugs, white structureless areas, and glomerular vessels. Histopathology confirmed the diagnosis as moderately differentiated squamous cell carcinoma. Genetic testing, using whole-genome sequencing, confirmed a pathogenic novel XP group C mutation, expanding the known phenotypic spectrum of XP. The patient was managed by excision of squamous cell carcinoma after staging by ENT surgeon, followed by placement of a myocutaneous rotatory flap. The patient was also started on acitretin as chemoprophylaxis.