Objective: To investigate the distribution and phenotypes of hemifacial microsomia (HFM) and its association with other anomalies. Methods: This study included 249 Korean patients with HFM, whose charts, photographs, radiographs, and/or computed tomography scans acquired during 1998-2018 were available from Seoul National University Hospital and Dental Hospital. Prevalence according to sex, side involvement, degree of mandibular deformity, compensatory growth of the mandibular body, and Angle's classification, and its association with other anomalies were statistically analyzed. Results: Prevalence was not different between male and female patients (55.0% vs. 45.0%, p > 0.05). Unilateral HFM (UHFM) was more prevalent than bilateral HFM (BHFM) (86.3% vs. 13.7%, p < 0.001). Although distribution of the Pruzansky-Kaban types differed significantly in patients with UHFM (I, 53.0%; IIa, 18.6%; IIb, 24.7%; III, 3.7%; p < 0.001), no difference was observed in occurrence between the right and left sides (52.6% vs. 47.4%, p > 0.05). Among patients with BHFM, prevalence of different Pruzansky-Kaban types on the right and left sides was greater than that of the same type on both sides (67.6% vs. 32.4%, p < 0.05). Despite hypoplasia of the condyle/ramus complex, compensatory growth of the mandibular body on the ipsilateral side occurred in 35 patients (14.1%). Class I and II molar relationships were more prevalent than Class III molar relationships (93.2% vs. 6.8%, p < 0.001). Forty-eight patients (19.3%) had other anomalies, with 50.0% and 14.4% in the BHFM and UHFM groups (p < 0.001). Conclusions: Patients with HFM require individualized diagnosis and treatment planning because of diverse phenotypes and associations with other anomalies.

Background: Pilomatrixoma is a benign tumor that originates from the hair follicle matrix. It usually presents as a hard, slow growing, solitary mass that can be easily misdiagnosed as other skin masses. The aim of this study was to clinically analyze a case series of pilomatrixoma in pediatric patients from Korea. Methods: A total of 165 pediatric patients from 2011 to 2018 with a histological diagnosis of pilomatrixoma were included. A retrospective review was performed using the electronic medical records, including patient demographics, number and location of the mass, clinical and imaging presentation, and postoperative outcomes. Results: There were 61 male and 104 female patients with 152 solitary and 13 multiple pilomatrixomas. Among solitary pilomatrixomas, the lesion commonly occurred in the head and neck (84.2%), followed by upper limbs (11.2%), lower limbs (3.3%), and trunk (1.3%). The pilomatrixoma lesion presented as the following types based on our clinical classification: mass (56.02%), pigmentation (25.31%), mixed (12.65%), ulceration (4.82%), and keloid-like (1.2%). Ultrasonography showed a high positive predictive value (95.56%). There were no specific complications observed except for two cases of recurrence. Conclusion: Pilomatrixoma has various clinical feature presentations and commonly occurs in the head and neck. Ultrasonography is a helpful diagnostic tool. Surgical removal of the lesion is the main treatment method with a low recurrence rate.

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A 17-month-old boy was evaluated for a midline mass on his chin. The mass was anchored to the mentalis muscle with a stalk-like structure. The pathological diagnosis of the mass was rhabdomyomatous mesenchymal hamartoma. This is the first report of rhabdomyomatous mesenchymal hamartoma presenting as a midline chin mass in Korean pediatric patients.