Familial Tumoral Calcinosis with dento-alveolar anomalies: clinico-pathological findings and Confocal Laser Scanning Microscopy of hard and soft tissues lesions

Introduction: We report on the clinic-pathological features of Familial Tumoral Calcinosis (FTC), a rare disease of early childhood and adulthood, caused by mutations in fibroblast growth factor 23 and GalNAc transferase 3. It is a bone metabolism disorder with abnormal phosphate and calcium (calcinosis) deposits around the joints, in visceral and soft tissues. Case Presentation: A 17 year-old girl complaining for long-standing night leg pain, resistant to FANS therapy, had been diagnosed with osteogenesis imperfecta and was therefore undergoing bisphosphonates therapy. She was referred to our Dental Clinic for diffuse dental anomalies (short and irregular roots, dental chambers anomalies, teeth inclusions) and maxillary hypoplasia and underwent combined surgical and orthodontic treatment. The surgical samples were used for conventional and Confocal Laser Scanning Microscopic (Nikon E-600) (CLSM) examination. Results and conclusions: Microscopically several metaplastic micro and macro-calcificationin soft and periodontal tissue location were detected, along with a typical islands of homogenous, non tubular, dentino-osteoid calcified structures in dentinal tissues. Also, dentinal dysplasia with osteoid-like material, without incremental lines but with strong basophilia, intermingled with remnants of mature mucous connective tissue, was demonstrated. The diagnosis of FTC was confirmed by genetic analysis. CLSM helps to demonstrate distinct odontoblast and osteoblast anomalies in FTC that lead to the accumulation of atypical calcified tissues, responsible for the several clinical signs detected in the patient and formerly attributed to osteogenesis imperfecta

Echography in the study of sialolithiasis

Abstract The US results are reported of 38 patients affected with sialolithiasis of the major salivary glands (37 cases of submandibular and 1 of parotid location). Sonography allowed all intraparenchymal calculi to be detected, as well as 59% of intraductal calculi. Associated US pathological features were: gland swelling in 36 cases (94%); ductal ectasia in 14 cases (61%); irregular echo structural arrangement of glandular parenchyma in 3 patients with multiple stones. US can be considered an useful diagnostic tool in sialolithiasis, for it allows the alterations in glandular structure in the late stages to be evaluated. Moreover, it may be repeated as often as necessary in the cases with multiple and/or recurrent stones

Mandibular bilateral compound odontoma: histological and morphostructural features by confocal laser scanning microscopy

Objectives. Odontomas are the most common odontogenic tumors of the oral cavity. They account for 22-67% of all maxillary tumors with an increased prevalence in children and adolescents. They are asymptomatic and are generally diagnosed by radiographic examination. The chosen treatment is surgical excision of the lesion followed by a histo- pathological examination. The aim of this study is to show confocal laser scanning microscopic features in a case of compound odontoma not easily evident when using an optical traditional microscopy. Methods. A case of bilateral mandibular compound odontoma in young patient is presented. Radiographic analysis revealed two symmetrical radio-opaque masses with a surrounding thin radio-transparent halo, up to the first lower premolars. Surgical excision of the lesion under general anesthesia was performed. The specimens were fixed in a buffered solution of 10% formalin, embedded in paraffin, cut in 3 μm thick serial sections, stained with hematoxylineosin, observed by optical microscope and by Confocal Laser Scanning Microscope (CLSM). Results. Control at 2 weeks showed excellent healing of the tissues. Follow-up at 6 months showed the absence of recurrence and the eruption of the previously retained teeth. CLSM analysis in autofluorescence underlined a different fluorescence of soft and hard tissues showing different intensity of emission in autofluorescence due to different degrees of calcification. The odontogenetic components appeared strongly autofluorescent and presented foci of ectomesenchymal dentinogenetic multifocal differentiation that cause irregularities in the shape and structure of the tissue. Conclusions. Odontomas are frequent in childhood and are often responsible for dental retention. CLSM allows a careful histo-morphological analysis of odontomas and other odontogenic tumors. The morpho-structural organization of the cellular component is also observed with the possibility of three-dimensional reconstruction. References • Crincoli V, Scivetti M, Di Bisceglie MB, Lucchese A, Favia G. Complex odontoma: confocal laser scanning microscopy analysis of a case. Minerva Stomatol. 2007 Nov-Dec;56(11-12):611-20. • Da Silva LF, David L, Ribeiro D, Felino A. Odontomas: a clinico-pathologic study in a Portuguese population. Quintessence Int 2009; 40(1):61-72. • Tamme T, Soots M, Kulla A, Karu K, Hanstein S-M, Sokk A, et al. Odontogenic tumours, a collaborative retrospective study of 75 cases covering more than 25 years from Estonia. J Cranio-Maxillofacial Surgery 2004; 32:161-5