Newly Recognized Oral Manifestations of Schimmelpenning Syndrome

Abstract

Schimmelpenning syndrome (SS) is an unusual disease that is characterized by mucocutaneous, central nervous system, ocular, and skeletal abnormalities. Nevus sebaceus, usually with broad involvement of the scalp and face, represents the classic skin finding associated with SS. We report a 6-year-old female with SS who presented with a variety of oral lesions, including a number of intraosseous jaw findings that have not been previously described in patients with the syndrome. These findings include bilateral central giant cell granulomas (CGCG)—one lesion involving the left maxilla, which perforated into the soft tissues, and a second distinct lesion involving the right anterior hard palate. Both CGCGs were diagnosed at the patient's initial presentation. Although there have been 2 published reports of CGCG identified in patients with the syndrome, in both cases the occurrence of the lesion was thought to represent a coincidental finding. We argue that CGCG represents a true clinical manifestation of SS. One year later, the patient presented again, this time with bilateral maxillary expansion. Microscopic review of the surgical specimens revealed bilateral benign fibro-osseous lesions, both complicated with foci of CGCG, typical appearing complex odontomas, and multiple malformed teeth containing melanin. A hybrid adenomatoid odontogenic tumor-odontoma involving the anterior mandible was also removed at that time. The findings of pigmented teeth and a hybrid odontogenic neoplasm are novel and have not been previously reported in patients with SS. Although the genetic defect associated with SS has not been characterized, it is intriguing to speculate that a common gene may be important in the pathogenesis of tooth development, maxillofacial benign fibro-osseous disease, and CGCG.