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24 December 2014 : Case report  Italy

Hyperphosphatemic Familial Tumoral Calcinosis: Odontostomatologic Management and Pathological Features

Challenging differential diagnosis, Rare disease, Congenital defects / diseases, Educational Purpose (only if useful for a systematic review or synthesis)

Gianfranco FaviaABDEF, Maria Grazia LacaitaABDF, Luisa LimongelliEF, Angela TempestaAEF, Nicola LaforgiaDE, Angela Pia CazzollaBCF, Eugenio MaioranoADEF

DOI: 10.12659/AJCR.892113

Am J Case Rep 2014; 15:569-575

Abstract

BACKGROUND: Hyperphosphatemic familial tumoral calcinosis (HFTC) is to a rare autosomal recessive disorder characterized by cutaneous and sub-cutaneous calcified masses, usually adjacent to large joints. The aim of the current study was to report on the clinico-pathological features of a patient with HFCT, with emphasis on alterations in the jawbones and teeth and the subsequent therapeutic interventions.

CASE REPORT: A 13-year-old male patient with HFTC diagnosis came to our attention for dental anomalies and maxillary and mandibular hypoplasia. OPT highlighted multiple impacted teeth, short and bulbous teeth, and pulp chamber and canal obliterations. Lateral cephalometric radiograms pointed out retrusion of both jaws, skeletal class II malocclusion, and deep-bite. He underwent orthopedic, orthodontic, conservative, and surgical treatments, allowing the correction of maxillo-facial and dental abnormalities and dysmorphisms without adverse effects. The surgical samples were sent for conventional and confocal laser scanning microscope (CLSM) histopathological examination, which highlighted several metaplastic micro- and macro-calcifications in the soft tissues, and typical islands of homogenous, non-tubular, dentino-osteoid calcified structures in dentinal tissues.

CONCLUSIONS: The management of maxillo-facial abnormalities in patients affected by HFTC is very difficult and, requires a combined therapeutic approach. To date, very few indications have been published in the literature.

Keywords: Calcinosis - surgery, Adolescent, Hyperostosis, Cortical, Congenital - surgery, Hyperphosphatemia - surgery, Jaw Diseases - surgery, Oral Surgical Procedures, Orthodontics, Corrective, Tooth Diseases - surgery

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American Journal of Case Reports eISSN: 1941-5923
American Journal of Case Reports eISSN: 1941-5923