Methods: Four patients with familial tumoral calcinosis were evaluated retrospectively using medical and dental records. Clinical history was reviewed and orofacial findings were retrieved from intra-oral and extra-oral examinations and from interpretation of periapical and panoramic radiographs.
Results: Geographic and racial diversity was present among our patient group despite the high predominance of TC in Africa reported in the literature (2 Caucasians from Middle East and North America, 2 Africans from Sub-Saharan Africa and North America). Intra-oral phenotypic findings included: calcifications in pulp chambers and along root canals of primary and permanent dentition (n=4), short and blunted roots on permanent dentition (n=3), taurodontism (n=1), cementosis (n=1), retained primary teeth (n=2), and mandibular exostosis (n=1). Extra-oral examination revealed the following: calcification of sublingual and submandibular salivary glands (n=1), and temporomandibular joint (TMJ) tenderness and pain (n=1). The TMJ pain was related to an internal derangement of the disc, which limited the mandibular range of motion upon opening and laterotrusion.
Conclusions: This case series suggests that tumor calcinosis patients may present with not only several abnormalities in tooth development and eruption, but also calcified masses affecting salivary glands and the TMJ disc. Thus, a careful and comprehensive intra-oral and extra-oral examination is required, as well as soft and hard tissue imaging of teeth, salivary glands and the TMJ.