Malignant Transformation and Management of Cutaneous Squamous Cell Carcinoma in a 7-Year-Old Child with Xeroderma...

Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder characterized by defective DNA repair, leading to extreme photosensitivity Affected individuals have a profoundly elevated risk estimated to be more than 10,000-fold greater than the general population of developing cutaneous malignancies, primarily squamous cell carcinoma (SCC). Management requires rigorous photoprotection and prompt, often repeated, surgical excisions. This is critically challenging in resource-limited settings with high ultraviolet exposure and limited surgical/oncological infrastructure.

We report a 7-year-old female from rural Somaliland, born to consanguineous parents, She presented with a 6-month history of an ulcerated, bleeding plaque on her right temple. Two younger siblings also exhibited milder dermatological symptoms, raising suspicion of familial XP with a 2-year history of progressive photosensitivity, xerosis, and freckling. Examination revealed characteristic XP findings including diffuse poikiloderma and ocular involvement (conjunctival growths, dry eyes). A clinical diagnosis of XP with suspected SCC was made. The lesion was initially excised with a 2mm margin; however, the SCC recurred within three months. A second, more extensive wide local excision with a 4mm margin and flap reconstruction was successful. Histopathology confirmed well-differentiated SCC invading the deep dermis.

This case highlights the aggressive and recurrent nature of cutaneous SCC in XP patients, It underscores the necessity of standard 4mm surgical margins even in anatomically challenging areas to prevent recurrence. Even in childhood. It underscores the immense challenges of managing this life-threatening genodermatosis in settings with limited access to specialized multidisciplinary care, advanced reconstructive surgery, and lifelong photoprotective resources. The iterative surgical approach, complicated by graft failure, illustrates the need for robust primary excision and highlights the role of pragmatic, adaptive surgical planning in low-resource contexts.