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The role of high‐frequency ultrasound in the clinical management of multiple pilomatricomas

The role of high-frequency ultrasound in the clinical management of multiple pilomatricomas Dear Editor, A 12-year-old girl was referred to our dermatological department due to growing masses of the upper limbs. The patient was diagnosed with Rubinstein-Taybi syndrome (RSTS) since birth, caused by a de novo mutation on the EP300 gene. Medical history included a non-hemodynamically active patent ductus arteriosus, moderate sensorineural hearing deafness, mild intellectual disability, and delayed musculoskeletal development. On dermatological examination, there were four painful firm and well-circumscribed, erythematous nodules with yellow-to-white central areas. Three small nodules were located on the right arm around the elbow, while the newest, and biggest (21 9 12 mm) was on the left arm (Fig. 1a). An ultrasonography was performed, which located the four lesions between the dermis and subcutaneous tissue. The lesions ranged from 10 to 21 mm. Other ultrasound features included pseudocystic nodules with fluid, hyperechoic, and calcific areas (Fig. 2). Vascular signals were visible with color and power Doppler at periphery for the smaller nodules and intralesional for the biggest one. Considering anamnesis background, clinical and imaging information, a diagnosis of multiple pilomatricomas was made. Because the lesion located on the left arm particularly affected the girl’s daily activities, we opted for a surgical removal (Fig. 1b). To reduce the risk of keloid formation, a conservative approach was chosen for the rest of the nodules. Pilomatricomas, also known as calcifying epithelioma of Malherbe, are benign dermal-subcutaneous tumors originating from follicular matrical cornification. They usually present in the first two decades as a solitary skin-colored or bluish nodule of hard consistency due to the calcific evolution of these tumors. Since pilomatricomas are the second most common benign skin neoplasm in childhood, multiple lesions might conceal a genetic syndrome such as myotonic dystrophy, familial adenomatous polyposis (FAP)-related syndromes, Turner, Kabuki, Sotos, and RSTS. Histopathological specimen of early pilomatricoma shows a cyst made of a wall consisting of basaloid matrical cells and a central area characterized by matrical cornification. Fibrosis and secondary granulomatous infiltrate are frequent findings, while calcification and ossification are typical of late pilomatricomas. Clinical diagnosis of pilomatricoma is not always so clear, and sometimes nodules can be misdiagnosed for sebaceous cyst. Compared to computed tomography, magnetic resonance Table 1 Summary of demographics and food insecurity results