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

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Abstract

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.

Autore Pugliese

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  • FAVIA G.;LACAITA M.G.

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Anno di pubblicazione

2013

ISSN

1971-1441

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