Tumoral calcinosis: a dental literature review and case report

Case report

A 41-year-old female was referred by her general dental practitioner (GDP) to the Periodontology Department of Birmingham Dental Hospital. She presented complaining of soreness and swelling of her gums, making chewing difficult as the crowns of her molar teeth were progressively being covered with gingival tissue. The patient had been aware of increasing gingival overgrowth along with enlargement of her maxillary and mandibular alveolar processes and the body of the lower jaw for a number of years (Figure 1a–e). She also complained of a continuous low-grade headache with occasional blurring of vision and felt her voice might be deepening. She did not report any tooth mobility or alteration of interdental spacing between teeth, however, her gums had recently started bleeding on brushing.

She had been born and brought up in Zimbabwe and her medical history revealed a long-term problem of bony deposition since the age of six years old, and previous surgery to remove bony masses from her elbow and hip joints. At the age of 14 years she had been hospitalized for many months with bowing and pain in her legs, and a recommendation for amputation had been refused by the patient's family. Haematological investigation in 1990 confirmed normal calcium levels.

The patient was an irregular dental attendee and used a manual toothbrush twice daily and toothpick as her oral hygiene regime. The patient's GDP had recently carried out a basic scale and polish.

Family history revealed the patient's brother suffered with similar gingival and bone enlargement problems and bony growths of various size throughout the body.

On examination extra-orally nothing abnormal was detected and intra-orally soft tissues appeared healthy. There was localized spacing between UR321, UL321 and LL12 and large bilateral mandibular tori (Figure 2), which were reported to be increasing in size and interfering with tongue movement and speech.

There was a BPE score of with mild periodontal pocketing affecting the LR67.

Radiographically, it was noted that there was considerable bony sclerosis of the mandible, maxilla and skull, with an increased number of bony trabeculae and reduced marrow spaces (Figure 3). The lateral skull view (Figure 4) also showed evidence of hyperostosis frontalis interna and degenerative changes affecting the cervical spine, particularly C4, 5 and 6. There was a general lack of definition of periodontal ligament spaces (Figures 5 and 6), along with sclerosis of dental pulp chambers and partial calcification of root canals. On the recommendation of the consultant oral and maxillofacial radiologist, a biopsy was performed on one of the lingual tori. Additional tests were undertaken to investigate for secondary hyperparathyroidism and referral made for endocrinological investigation. Preliminary differential diagnoses of metabolic bone disease, fibrous dysplasia, Paget's disease or acromegaly were made.

The results for calcium, albumin, T protein and alkaline phosphatase were all within normal range. The histopathology report indicated compact bone of normal appearance.

Subsequent clinical genetic investigation confirmed a diagnosis of tumoral calcinosis (autosomal recessive) on the basis of genetic identification of mutation in her GALNT-3 gene. The identical gene change was present in both copies of the GALNT-3 gene, ie present in both parents, suggesting that further back in the family they were more distantly related. None of her three children was affected.

As the patient was having difficulty with carrying out effective oral hygiene measures and experiencing discomfort with eating, she elected to undergo surgical crown lengthening to debulk the enlarged gingival and alveolar bony tissue.

This was performed under local anaesthetic by quadrant UR543, UL4578, LR6543, LL34567.

Buccal and lingual flaps were raised and bone removed with a surgical hand-piece/bur under sterile running water. Bone and soft tissue samples were sent for further histopathology and the flaps closed with black silk sutures to be removed and the sites reviewed at one week. The histopathology reports indicated sections of mucosa covered by parakeratinized squamous epithelium (acanthotic and hyperplastic) with the underlying corium containing lymphoplasmacytic infiltrate and numerous fragments of amorphous mineralized/acellular calcified material resembling dystrophic bone or cementum

At follow-up, all surgical sites had healed well and oral hygiene was reinforced. At subsequent review appointments, there had been no significant periodontal pocketing present and oral hygiene remained good. The patient underwent further bone radiography and scanning of the skull, pelvis and hips for specialty bone radiography/pathology interpretation, and DXA (dual emission x-ray absorptiometry) bone scanning which revealed increasing calcification in the left hip. The patient had decided not to go ahead with further hip surgery for the time being. The endocrinologists were considering treatment with phosphate binders but the patient was apparently reluctant to take tablets and was kept under review. Sadly, communication was received that the patient had died. The cause of death is unknown.

Discussion

Tumoral calcinosis was first described in the literature by Giard1 and Duret,2 but the first to use the term ‘tumoral calcinosis’ was Inclan3 in 1943. He differentiated TC from the other calcifications associated with renal osteodystrophy, connective tissue disease, and hormonal changes and therefore developed a standard by which to diagnose the condition. At the same time Teutschlander4 was studying the disease from 1930–1950. He thought that the disease was due to lipomatosis in the muscles with subsequent calcification and called it lipogranulomatosis.

In the mid-1960s, many cases were published and reviews established that TC had familial tendency without sex predominance, but with significantly higher incidence in patients from African descent. In the clinical literature, the term has been recognized as primary or idiopathic TC, which refers to the original disease reported by Inclan et al and as secondary TC, which is associated with renal, metabolic or collagen vascular disease.

There are about 200 reported cases of TC. Commonly reported dental findings are teeth with short bulbous roots and calcification in the pulp cavity and root canals.^5,6,7 The dentine is variously described as normal in areas with some teeth/roots displaying areas of amorphous calcification within the dentine mass/pulp space, resulting in irregular tubule formation. Teeth extracted from one patient due to periodontal disease had normal enamel and coronal dentine but obliteration of the pulp chamber with a central mass of concentric layers of hyaline material and hypercementosis.7 In 1973, Hoggins and Marsland8 reported dental abnormalities in a 15-year-old Bangladeshi girl who had previously been diagnosed with TC. In this case, the teeth were found to have a dilated area in the coronal third of the roots which were grossly resorbed. The enamel and the dentine were normal but the pulp chamber was obliterated by calcified tissue. In 1985, Lyles et al9 described a TC patient with significant periodontal destruction.

Other dental findings were reported later (1989) by Katz et al.10 His extra-oral findings were similar to the ones reported by Gal et al11 in 1994. He reported the following features in six patients of Jewish-Yemenite descent: skin calcified masses, angular cheilitis, and papillary changes of the dorsum of the tongue, maculo-papullar rash and hoarseness. In his article, Gal also reports the following features: papillary hyperplasia of the entire upper and lower lip vermilion, velvety red erythematous lesion on hard palate, normal dental morphology, advanced periodontal disease with early loss of teeth, concave profile, shallow malar eminence, retruded maxilla and relative mandibular prognathism.

There are three reported cases of TC in the temporomandibular region^12–14 and one case of TC in the premaxilla.15 Surgical excision was performed in all cases since the calcified deposits caused deformities and interfered with the movement of the jaw.

There are many other calcific conditions with similar clinical manifestations to TC, including the calcinosis of chronic renal failure, calcinosis universalis, calcinosis circumscripta, calcinosis tendonitis, synovial osteochondromatosis, synovial sarcoma, osteosarcoma, myositis ossificans, tophaceous gout and calcific myonecrosis.

The prognosis of TC is not well documented in the literature. Gal et al reported spontaneous improvement on reaching adolescence, including growth arrest of calcific foci.11 There is no definitive treatment for TC, however, phosphate depletion therapy using aluminium hydroxide in conjunction with a carbonic anhydrase inhibitor (acetazolamide), along with surgical excision, provides the most effective therapy to date.^16–18

Conclusion

Tumoral calcinosis is a rare disorder of mineral metabolism among adolescents and young adults, characterized by pathological deposition of calcific masses around large joints. Laboratory tests usually show hyperphosphataemia with normal levels of calcium, PTH and alkaline phosphatase. Dental findings are similar to dentine dysplasia and include: blunted and acutely tapered roots with various degrees of obliteration of the root canals and coronal pulp chamber. The dentition can be periodontally involved with early loss of the permanent teeth.