• Journal of the Korean Association of Oral and Maxillofacial Surgeons
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• v.48 no.3
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• pp.178-181
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• 2022

Williams-Beuren syndrome (WS) is a rare genetic disorder that results from microdeletion at chromosome 7, which harbors the elastin gene. Clinical findings include arteriopathy, aortic stenosis, hypertension, and laxities and contractures in different joints throughout the body. While many components of the temporomandibular joint (TMJ) normally contain elastin, there are few reports on TMJ manifestations of WS. This study reports a TMJ ankylosis case in a WS patient and shares insight on a possible link between development of TMJ ankylosis and elastin deficiency in WS patients. A WS patient presented with bilateral TMJ ankylosis and was successfully treated with TMJ gap arthroplasty. Hypermobility of TMJ and lack of elastin in retrodiscal tissue can induce anterior disc displacement without reduction. Due to lack of elastin, which has a significant role in the compensatory and reparatory mechanism of TMJ, WS patients might be prone to TMJ ankylosis.

• Journal of the Korean Association of Oral and Maxillofacial Surgeons
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• v.47 no.2
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• pp.141-144
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• 2021

Osteopathia striata with cranial sclerosis (OS-CS) is a bone dysplasia characterized by a linear striated pattern of sclerosis, especially in the long bones, and cranial sclerosis. It has variable clinical findings but distinctive radiological findings. Multiple oral and dental findings have been associated with this disease and can be seen during dental and/or medical imaging of the head and neck. Dentists and clinicians must be familiar with these signs to differentiate them from pathosis or erroneous radiographs. In the following case, we present a patient with OS-CS that presented at The University of Florida College of Dentistry with multiple craniofacial manifestations of this syndrome that were seen on a panoramic radiograph, which is one of the most commonly requested radiographs by dentists.

• Journal of the korean academy of Pediatric Dentistry
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• v.38 no.1
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• pp.68-74
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• 2011

Rett syndrome is a X-linked genetic neurological disorder characterized by developmental regression, particularly in relation to expressive language and use of the hands, together with profound mental retardation, that almost exclusively affects females. Oral manifestations of the disease are commonly associated with the clinical conditions such as convulsion activity, difficulties for oral hygiene behavior, walking problems and oral/digitalmanual habits. Bruxism is the most frequently observed oral habit in patients with Rett syndrome. Two cases with the Rett syndrome were reported. Both patients had the typical manifestations like stereotypic hand movement, bruxism and digit-hand sucking. Caries control for the patients was perfomed under general anesthesia.

• Journal of the korean academy of Pediatric Dentistry
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• v.27 no.4
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• pp.499-504
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• 2000

Amelogenesis imperfecta is defined as a genetically determined effect affecting enamel formation and may be associated with other ectodermal or systemic disorders. It is entirely an ectodermal disturbance, since the mesodermal components of the teeth are basically normal. The presentation of diverse clinical manifestations in 1:14,000 to 1:16,000. Classification of the AI types considers mode of inheritance and clinical manifestations. The most widely accepted classification system recognize three major groups; i.e., hypoplastic(thin enamel), hypocalcified(primary mineralization defect), hypomaturation(defect in enamel maturation). The treatment is that at first, genetic counselling must be practiced, and in anterior teeth, composite resin veneer or jacket crown for esthetics, and in posterior teeth, stainlees steel crown or gold onlay.

• Imaging Science in Dentistry
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• v.54 no.1
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• pp.13-24
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• 2024

Purpose: Pycnodysostosis (PYCD), an autosomal recessive syndrome, is characterized by an imbalance in bone remodeling that produces various clinical and radiographic craniofacial manifestations. This review represents a systematic examination of these manifestations, as well as oral features associated with PYCD. Materials and Methods: A systematic review was conducted across 8 databases from February to March 2023. The search strategy focused on studies reporting cases of PYCD that examined the clinical and radiographic craniofacial and oral characteristics associated with this syndrome. Results: The review included 84 studies, encompassing a total of 179 cases of PYCD. More than half of the patients were female (55.3%), and the mean age was 14.7 years. Parental consanguinity was reported in 51.4% of the cases. The most common craniofacial clinical manifestation was a prominent nose, observed in 57.5% of cases. Radiographically, the most frequently reported craniofacial characteristics included the presence of an obtuse mandibular angle (84.3%) and frontal cranial bosses(82.1%). Clinical and radiographic examinations revealed oral alterations, with micrognathia present in 62.6% of patients and malocclusion in 59.2%. Among dental anomalies, tooth agenesis was the most commonly reported, affecting 15.6% of patients. Conclusion: Understanding the clinical and radiographic craniofacial features of PYCD is crucial for dental professionals. This knowledge enables these clinicians to devise effective treatment plans and improve patient quality of life.

• Maxillofacial Plastic and Reconstructive Surgery
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• v.23 no.5
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• pp.435-446
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• 2001

Natural Killer/T-cell(NK/TC) lymphoma is a rare disease of oral and maxillofacial region with an aggressive clinical course, showed unusual clinical manifestations. Prognosis is generally poor and the disease is invariably fatal after systemic dissemination. A case of nasal NK/TC non-Hodgkin's lymphoma in the left maxilla that showed unusual clinical manifestations and a fulminant course of disease, are described with literature reviews. A 81-year-old female patient presented with rapidly growing ulceration and general malaise after extraction of right upper second premolar NK/TC lymphoma was subsequently detected by biopsy. rapid and wide invasion from maxilla to mandible developed within 10 days and multiple metastasis to whole body was after a few weeks. Although the time relationship is not clear, local invasion and multiple metastasis could be dissemination from localized disease of NK/TC. As seen in my case, the course can be excessively aggressive and fulminant even though it first appeared as a localized ulceractive lesion. She is expired 2 months after biopsy. Positivity of immunohistochemical stain (CD56, LCA, UCHL-1, CD3), which is a specific characteristic of NK/TC, may serve as a factor showing a poor prognosis of a malignant lymphoma

• Clinical and Experimental Pediatrics
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• v.59 no.11
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• pp.456-459
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• 2016

Triple-A syndrome, also known as Allgrove syndrome, is a rare autosomal recessive disorder. The 3 features of this syndrome are achalasia, adrenal insufficiency, and alacrima. Achalasia could be the first manifestation of the triple-A syndrome; however, its etiology is unclear. Alacrima is generally asymptomatic but can be detected by obtaining patient history. Although adrenal insufficiency could have manifestations such as asthenia, it might be wrongly diagnosed as muscle fatigue. Vitamin D and calcium supplements are usually prescribed for the prevention of osteoporosis. Neurologic manifestations could be present in adults. In some individuals with this disorder, genetic examination indicates mutations in both alleles of the AAAS gene, which encodes a special 546-amino-acid protein designated ALADIN, and in chromosome 12q13. The genetic cause of the triple A syndrome in some patients who do not have an identified mutation is unknown. While very few such cases have been reported till date, one such case was presented to us as an edentulous child.

• Journal of Oral Medicine and Pain
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• v.47 no.3
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• pp.126-134
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• 2022

Purpose: This study aimed to propose an efficient treatment approach for infection with different candida species. Methods: Fifty-three patients who presented with a chief complaint of oral mucosal pain and exhibited positive candida culture findings were divided into two groups (Candida albicans and non-albicans). Pain, mucosal manifestations, salivary flow rates, durations of disease and treatment, and responses to treatment (nystatin and clonazepam) were investigated in both groups. Results: Patients in the C. albicans group exhibited more prominent clinical characteristics (erythematous lesions, tongue coatings, and hyperalgesia) than those in the non-albicans group. In total, 70% of patients in the non-albicans group showed no abnormalities in the oral mucosa. Patients in the C. albicans group showed increased resistance to nystatin treatment compared to those in the non-albicans group, especially with longer disease durations. The patients resistant to nystatin treatment showed positive responses to clonazepam. Conclusions: Patients with oral mucosal pain should be tested for the presence of Candida, even in the absence of mucosal abnormalities, especially those infected with non-albicans species. If no response to antifungal therapy is observed, treatment with clonazepam should be initiated, especially in patients infected with C. albicans.

• Journal of Oral Medicine and Pain
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• v.39 no.1
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• pp.29-33
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• 2014

Mucormycosis is a rare but fatal fungal infection with low survival rate in immune-compromised patients. It is caused by a fungus belonging to the Mucoraceae family of the Zygomycetes class. Mucormycosis is classified as rhino-orbital-cerebral, pulmonary, cutaneous, gastrointestinal, disseminated, and miscellaneous types according to its clinical manifestations. Early diagnosis and treatment along with correction of the underlying medical condition is important for favorable results. This case presentation describes mucormycosis involving the anterior maxillary region in a leukemic patient with prolonged neutropenia. The patient benefited from a timely biopsy and immediate treatment with amphotericin B, and was successfully managed with an interdisciplinary team approach consisting of dental and several medical specialists.

• Imaging Science in Dentistry
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• v.53 no.3
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• pp.257-263
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• 2023

Fibrodysplasia ossificans progressiva is a rare hereditary disorder characterized by progressive heterotopic ossification in muscle and connective tissue, with few reported cases affecting the head and neck region. Although plain radiographic findings and computed tomography features have been well documented, limited reports exist on magnetic resonance findings. This report presents 2 cases of fibrodysplasia ossificans progressiva, one with limited mouth opening due to heterotopic ossification of the lateral pterygoid muscle and the other with restricted neck movement due to heterotopic ossification of the platysma muscle. Clinical findings of restricted mouth opening or limited neck movement, along with radiological findings of associated heterotopic ossification, should prompt consideration of fibrodysplasia ossificans progressiva in the differential diagnosis. Dentists should be particularly vigilant with patients diagnosed with fibrodysplasia ossificans progressiva to avoid exposure to diagnostic biopsy and invasive dental procedures.