Vanishing bone disease of the mandible – a case report

Asha, M L; Jose, Anju Anu; Babshet, Medha; Bajoria, Atul Anand; Srinivas, Naveen

doi:10.1111/ger.12054

Cited by 7 publications

(3 citation statements)

References 40 publications

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“…Potential differential diagnoses of osteodysplasia syndromes, which involve bone anomalies in the oral and maxillofacial region, are shown in Table 2 [6, 16]. Gorham’s disease is an acquired condition characterized by local or massive osteolysis that can involve the oral and maxillofacial bones.…”

Section: Discussionmentioning

confidence: 99%

New PCNT candidate missense variant in a patient with oral and maxillofacial osteodysplasia: a case report

et al. 2019

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Background Osteodysplasia of the oral and maxillofacial bone is generally accompanied by systemic bone abnormalities (such as short stature, joint contracture) or other systemic abnormalities (such as renal, dermatological, cardiovascular, optic, or hearing disorders). However, it does not always present this way. Recent reports have suggested that genome-wide sequencing is an effective method for identifying rare or new disorders. Here, we performed whole-exome sequencing (WES) in a patient with a unique form of acquired, local osteodysplasia of the oral and maxillofacial region. Case presentation A 46-year-old woman presented to our hospital with the complaint of gradually moving mandibular teeth (for 6 months), changing facial appearance, and acquired osteolysis of the oral and maxillofacial bones, showing mandibular hypoplasia without family history. Upon skeletal examination, there were no abnormal findings outside of the oral and maxillofacial area; the patient had a height of 157 cm and bone mineral density (according to dual energy x-ray absorptiometry) of 90%. Results of blood and urine tests, including evaluation of bone metabolism markers and neurological and cardiovascular examinations, were normal. We performed WES of genomic DNA extracted from the blood of this patient and her mother, who did not have the disease, as a negative control. We identified 83 new missense variants in the patient, not detected in her mother, including a candidate single nucleotide variant in exon 14 of PCNT (pericentrin). Critical homozygous or compound heterozygous variants in PCNT are a known cause of microcephalic osteodysplastic primordial dwarfism type II accompanied by mandibular hypoplasia, which is similar to the maxillofacial phenotype in this patient. Conclusions Protein simulations performed using Polymorphism Phenotyping v2 and Combined Annotation Dependent Depletion software indicated that this missense variant is likely to disrupt the PCNT protein structure. These results suggest that this is a new form of osteolysis related to this PCNT variant.

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Section: Discussionmentioning

confidence: 99%

New PCNT candidate missense variant in a patient with oral and maxillofacial osteodysplasia: a case report

et al. 2019

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“…Anaesthesia and airway management are further complicated in cases of respiratory involvement. Other considerations for the surgical management of these cases include the differential diagnoses of osteolytic lesions in the jaws, TMJ pain and dysfunction, and spontaneous pathologic fractures.…”

Section: Discussionmentioning

confidence: 99%

“…There are very few previous reports of these vascular anomalies affecting the mandible or maxilla with only a few cases described in the literature. Only 30% of patients with these conditions exhibit osteolysis of the maxillofacial bones, most commonly in the mandible. Clinical presentation in a number of cases describes an initial facial swelling, as well as pain, mobile teeth, malocclusion, difficulty eating, nasal discharge, fracture, deviation of the maxillofacial growth patterns, and clinically obvious facial deformity.…”

Section: Introductionmentioning

confidence: 99%

Dental management of lymphangiomatosis: case report

2019

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Lymphangiomatosis is a rare type of diffuse tumour, which develops from an aberrant growth of the lymphatic vessels, and can produce progressive osteolysis of bone in multiple organ systems. In this article, we illustrate a rare case of a 14-year-old female patient with lymphangiomatosis affecting the maxillofacial bones. The patient showed a marked deviation from normal maxillofacial growth patterns resulting in significant malocclusion and oral complications. The present study examines and considers the multidisciplinary management of the case with a brief review of the literature.

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