24 December 2014 : Case report
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 MaioranoADEFDOI: 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
In Press
12 Feb 2024 : Case report
Erdheim-Chester Disease Occult on Radiographs and CT but Visible on MRI and PETAm J Case Rep In Press; DOI: 10.12659/AJCR.941169
12 Feb 2024 : Case report
Surgical Treatment of Spontaneous Superficial Temporal Artery Arteriovenous Malformation: A Case ReportAm J Case Rep In Press; DOI: 10.12659/AJCR.942839
13 Feb 2024 : Case report
Warfarin Woes: A Rare Case of Hemoperitoneum with Intramural Small Bowel HematomaAm J Case Rep In Press; DOI: 10.12659/AJCR.943519
13 Feb 2024 : Case report
Hemorrhagic Presentation in Primary Central Nervous System Lymphoma: A Case StudyAm J Case Rep In Press; DOI: 10.12659/AJCR.942951
Most Viewed Current Articles
07 Mar 2024 : Case report
Neurocysticercosis Presenting as Migraine in the United StatesDOI :10.12659/AJCR.943133
Am J Case Rep 2024; 25:e943133
10 Jan 2022 : Case report
A Report on the First 7 Sequential Patients Treated Within the C-Reactive Protein Apheresis in COVID (CACOV...DOI :10.12659/AJCR.935263
Am J Case Rep 2022; 23:e935263
19 Jul 2022 : Case report
Atlantoaxial Subluxation Secondary to SARS-CoV-2 Infection: A Rare Orthopedic Complication from COVID-19DOI :10.12659/AJCR.936128
Am J Case Rep 2022; 23:e936128
23 Feb 2022 : Case report
Penile Necrosis Associated with Local Intravenous Injection of CocaineDOI :10.12659/AJCR.935250
Am J Case Rep 2022; 23:e935250