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Multiple Giant Pilomatricoma in Familial Sotos Syndrome
Author(s) -
GILABERTE YOLANDA,
FERRERLOZANO MARTA,
OLIVÁN MARÍA JESÚS,
COSCOJUELA CARMEN,
ABASCAL MANUEL,
LAPUNZINA PABLO
Publication year - 2008
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/j.1525-1470.2007.00602.x
Subject(s) - sotos syndrome , exon , medicine , pilomatrixoma , mutation , gene , genetics , dermatology , biology , pediatrics
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 β‐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.