Clinical Diagnostic Challenges in Childhood Pilomatrixoma: A Retrospective Study of 74 Patients.
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Pilomatrixoma is a common, but frequently misdiagnosed, benign skin tumor in childhood. This retrospective study evaluated the clinical diagnostic challenges, anatomic distribution, and surgical outcomes of pediatric pilomatrixoma in 74 patients aged 0 to 18 years with a histopathologically confirmed diagnosis, treated between 2017 and 2026. The mean age was 10.4 years, with a female-to-male ratio of 1.5:1. Lesions were located in the head and neck in 67.6% of the patients, most often in the neck (42.0%), with the posterior neck being the single most common subsite, with a median greatest diameter of 1.0 cm, and 24.3% of the patients had multiple lesions. The preliminary clinical diagnosis matched the histopathologic diagnosis in only 4.1% of cases, and the radiologic diagnosis matched the histopathologic diagnosis in only 1.4%. Preoperative imaging reliably detected a mass but rarely characterized it specifically as pilomatrixoma, and 35.1% of patients did not undergo preoperative imaging. Complete surgical excision was performed in all patients according to aesthetic principles. Postoperative complications occurred in 5.4% and true local recurrence in 1.4% of patients; 3 additional patients developed metachronous lesions at distinct anatomic sites during follow-up, and no patient had an associated syndrome or malignant transformation. Pediatric pilomatrixoma shows strikingly low preoperative diagnostic accuracy, underscoring the need for a high index of suspicion with histopathology as the diagnostic gold standard. Complete excision according to aesthetic principles yields a low recurrence rate and excellent cosmetic outcome, and metachronous lesions warrant long-term follow-up.