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.
BackgroundTrousseau syndrome is known as a variant of cancer-associated thrombosis. Trousseau syndrome commonly occurs in patients with lung or prostate cancer. Hypercoagulability is thought to be initiated by mucins produced by the adenocarcinoma, which react with leukocyte and platelet selectins to form platelet-rich microthrombi. This is the first report of Trousseau syndrome in a patient with oral cancer.Case presentationHere, we describe the case of a 61-year-old Japanese man diagnosed as having advanced buccal carcinoma (T4bN2bM1; the right scapula, erector spinae muscles, and the right femur), who experienced aphasia and loss of consciousness. Although magnetic resonance imaging showed cerebral infarction, carotid invasion by the tumor and carotid sheath rupturing, cardiovascular problems, and bacterial infection were not present, which indicated Trousseau syndrome.ConclusionsTrousseau syndrome in oral cancer is rare, but we must always consider cancer-associated thrombosis in patients with advanced stages of cancer regardless of the primary site of the cancer and take steps to prevent it.
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