Clinical and pathological features of 209 cases of pilomatricoma in children: a retrospective study.

Background: Pilomatricoma, albeit benign, may have a potential impact on children's appearance and health. Clinical practice has revealed variations in the clinical manifestations, anatomical locations, and sizes of pilomatricoma among different pediatric patients. However, few studies have comprehensively summarized the correlations between these features and treatment efficacy, which is crucial for enhancing clinicians' understanding and diagnostic accuracy of the disease.

Objectives: This study aimed to comprehensively analyze the clinical characteristics, ultrasonographic and pathological features, and treatment outcomes of pilomatricoma in Chinese pediatric patients at a single pediatric dermatology surgery center.

Methods: A retrospective study was conducted on the medical histories of 209 Chinese children who underwent surgical excision with subsequent pathological confirmation of pilomatricoma at Shanghai Children's Medical Center between January 2023 and January 2024. We carried out a multidimensional analysis integrating clinical, ultrasonographic, and histopathological features.

Results: Pilomatricoma exhibits distinct clinical, ultrasonographic, and pathological characteristics in children. Key findings included: (i) Female predominance in limb/trunk involvement (34.5% vs 17.3% in males, P ≤ .01); (ii) Head/neck localization decreasing with age; (iii) Characteristic ultrasonographic patterns (88.2% calcification detection rate); (iv) No recurrence following complete excision.

Conclusions: Our findings demonstrate distinct gender-based anatomical distribution patterns and excellent surgical outcomes for pediatric pilomatricoma. The integration of high-frequency ultrasonography with clinical evaluation significantly enhances diagnostic accuracy, potentially reducing unnecessary interventions in this population. These findings provide critical references for clinicians regarding disease characteristics and diagnostic optimization. Key messages What is already known: Pilomatricoma is a benign hair matrix-derived tumor with diverse clinical presentations, often leading to misdiagnosis. Previous studies have reported its association with Wnt/β-catenin pathway mutations and a predilection for the head/neck region in children, but comprehensive analyses of gender-specific anatomical distribution and diagnostic optimization are lacking. What this study adds: This large pediatric cohort reveals gender differences in anatomical involvement (female predominance in limb/trunk lesions) and demonstrates that high-frequency ultrasonography (88.2% calcification detection) significantly improves preoperative diagnostic accuracy (71.3% vs. historical rates of 16%-43%). How this study might affect research, practice, or policy: The findings advocate for integrating ultrasonography into clinical workflows to reduce misdiagnosis and unnecessary interventions. Gender-specific patterns may prompt research into hormonal influences on tumor pathogenesis. Surgical excision remains definitive, with no recurrence, reinforcing its role as first-line therapy.