Cerebral giantism or Sotos syndrome consists of a pre- and postnatal overgrowth whose genetic basis are mutations and deletions of the nuclear receptor-binding SET domain containing protein gene. These patients have an increased risk of developing neoplasms, especially in adulthood. We report a 9-year-old boy, diagnosed with familial Sotos syndrome, who had two pilomatrixoma, symmetrically located on both sides of the neck, measuring 4 cm in diameter. Genetic study of the tumor tissue showed deletion of exon 22 of the NSD1 gene, whereas beta-catenin gene mutations were not detected. To the best of our knowledge, presentation of multiple pilomatricomas with Sotos syndrome has never been reported. Therefore their association probably is incidental. Nevertheless, the unusual size of our patient's pilomatricomas could be due to deletion of the NSD1 gene, which characterizes Sotos syndrome.

Multifocal type of pilomatrixoma.Adv Med Sci. 2007;52:251-3.

Pilomatrixoma is a benign skin neoplasm that arises from hair follicle matrix cells. The skin lesion occurs usually as a solitary tumor and the multifocal types are very rare. Skin changes can be described as a firm to hard, non-painful, oval-shaped tumor that is covered by normal skin. It commonly occurs on a scalp, face, neck and rarely back and extremities. Complete surgical excision with the proper margin is the treatment of choice, what guaranteed the radical therapy of pilomatrixoma. In this paper case of 16-years-old male patient with many solid tumors in subcutaneous tissue on both arms will be reported. The first skin lesion appeared on the left arm 6 years ago. Clinically the disturbance was diagnosed as an atheroma, and it was excised. One year after surgical procedure the patient observed the appearance of new nodules on both arms. In the therapy surgical excision was performed with histopathological examination of the tissues. Histopathological test has proved the clinical diagnosis of pilomatrixoma. The case of multifocal pilomatrixoma, which is rarely diagnosed and described in professional literature, will be presented.