Bernard-Soulier syndrome (BSS) is an inherited thrombocytopenia caused by deficiency of GPIb/IX/V glycoprotein complexes that are necessary for platelet aggregation. We report a case of BSS that was proved to be platelet transfusion refractory (PTR) following invasive dental treatment. The patient was a 69-year-old man in whom BSS had been diagnosed at 40 years of age. The patient required dental extraction and scaling of multiple teeth because of periodontitis. On the day of treatment, the blood platelets were increased from 1.9 × 10⁴/μ L to 3.0 × 10⁴/μ L by platelet transfusion of 10 units, and the patient underwent extraction of 6 teeth and dental scaling of the residual teeth. Thereafter, post-scaling gingival bleeding was continuously seen at the right mandible. We performed postoperative platelet transfusions of 20 units and an additional 20 units just before removal of the local hemostatic splints. The postoperative course suggested PTR, and antiplatelet antibodies were examined. The patient was positive for both anti-HLA and anti-GPIb/IX antibodies. Some BSS patients might be PTR even though preoperative prophylactic platelet transfusions are judged to be effective. The present case suggests that it is necessary to take measures for local hemostasis, always keeping the possibility of PTR in mind.

Myxofibroma of the jaw is a rare benign mesenchymal-related tumor. This tumor has the ability to deeply invade into bone trabeculae, and the recurrence rate is thus high. Here, we present a case of myxofibroma of the maxilla occupying the maxillary sinus. The patient was a 51-year-old woman with painless swelling of the right buccal region. CT findings revealed a well-defined and multilocular tumor mass in the maxillary sinus. The nasal cavity on the right was remarkably compressed by the tumor mass. The pathological diagnosis of the biopsy specimen was myxoma. Under general anesthesia, partial maxillectomy and skin grafting were performed. The pathological findings showed proliferation of stellate, spindleshaped, and round cells with myxoid and fibrous changes in the bone tissue. The pathological diagnosis was finally myxofibroma. Follow-up for 3 years after tumor resection indicated a good prognosis with no sign of recurrence.

Langerhans cell histiocytosis (LCH) is a relatively rare proliferative disorder of Langerhans cells. We herein report an extremely rare case of LCH arising in the mandible and trunk skin of a 6-month-old boy. A patient was referred to our clinic because of right cheek swelling. Computed tomography revealed broad bone expansion and a defect in the right mandibular molar region. An excisional biopsy was performed, and the lesion was histopathologically diagnosed as LCH (multi-system multi-site: MM type). Immunohistochemically, the histiocytes were positive for S -100 and CD1a. The patient subsequently underwent chemotherapy (vinblastine and prednisolone), and the lesion was reduced completely. Long-term follow-up should be practiced to monitor for tumor recurrence and hypoplasia of the teeth as a side effect of chemotherapy. There has been no recurrence after 2 and a half years of follow-up.

Epithelial myoepithelial carcinoma (EMC) is a rare malignant tumor accounting for approximately 4.1% of all salivary gland malignant tumors arising mainly in the parotid gland. We report an extremely rare case of EMC with high grade transformation originating from the anterior tongue gland.

　The patient was a 66-year-old man. On clinical examination, a 50 × 35 mm elastic, hard mass was found in the tongue tip on the left side. CT and MRI showed a clear boundary tumor mass with a necrotic or bleeding region. After incisional biopsy, the mass was diagnosed as EMC. Partial glossectomy was performed under general anesthesia. Histologically, the tumor had two distinct carcinomatous components. One component showed the features of EMC, and the other showed high-grade transformation features. The Ki-67 labelling index of the EMC component was 3%, and that of the high-grade transformation component was 50%. The final histological diagnosis was EMC with high grade transformation.

　Six months postoperatively, he was hospitalized because of ileus caused by metastatic peritoneal dissemination of EMC and died of multiple organ failure.

Synovitis, acne, pustulosis, hyperostosis and osteomyelitis (SAPHO) syndrome result in abacterial inflammatory lesions that are difficult to diagnose. We report effective treatment using adalimumab for chronic sclerosing osteomyelitis of the mandible and palmoplantar pustulosis thought to be caused by SAPHO syndrome.

　The patient was a 25-year-old woman with a history of palmoplantar pustulosis. She was referred to our hospital because of pain in the right side of the mandible. Tooth extraction of the third molar and several types of antibacterial chemotherapy were performed in several former clinics, but had no therapeutic effect. We subsequently diagnosed chronic sclerosing osteomyelitis of the mandible and performed mandibular corticotomy and hyperbaric oxygen therapy under pre-and post-operative antibiotics administration. The patient’s pain disappeared, but one month after the treatment, the pain and palmoplantar pustulosis recurred. The patient was referred to the department of internal medicine with a suspected diagnosis of SAPHO syndrome. The physician defined the diagnosis as SAPHO syndrome and prescribed adalimumab, a human monoclonal antibody. The patient’s symptoms resolved 7 months after beginning the therapy. Currently, her symptoms have not recurred.

Microcystic adnexal carcinoma (MAC) is a rare malignant tumor of skin appendages. MAC grows slowly, but is locally aggressive. The metastatic potential is low, but the recurrence rates are very high owing to insufficient dissection. The most common location of MAC is the skin of the midface of middle-aged adults. There has been no report about MAC arising in the gingiva. We report here an extremely rare case of MAC of the upper gingiva in a 53-year-old woman. She presented to our hospital with a 6-year history of a gradually increasing gingival mass. Intraoral examination revealed a smooth, poorly circumscribed mass with white granules resembling Fordyce spots on her upper gingiva. There was no bone destruction or regional lymph node swelling. The histopathological diagnosis was a tumor of skin appendages. Tumor resection was performed. Postoperative pathological examination revealed that the tumor differentiated into hair follicles and the sweat-gland-like structures and deeply infiltrated into muscle, perineural spaces, and bone. Since the surgical margins were positive, additional resection was performed after preoperative mapping biopsy. Finally, the tumor was completely excised. No tumor recurrence or metastasis have been observed over 1 year.