• Journal of the Korean Association of Oral and Maxillofacial Surgeons
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• v.43 no.2
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• pp.106-114
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• 2017

Osteoid osteomas are benign skeletal neoplasms that are commonly encountered in the bones of the lower extremities, but are exceedingly rare in jaw bones with a prevalence of less than 1%. This unique clinical entity is usually seen in younger individuals, with nocturnal pain and swelling as its characteristic clinical manifestations. The size of the lesion is rarely found to be more than 2 cm. We hereby report a rare case of osteoid osteoma originating from the neck of the mandibular condyle that grew to large enough proportions to result in conductive hearing loss in addition to pain, swelling and restricted mouth opening. In addition, an effort has been made to review all the documented cases of osteoid osteomas of the jaws that have been published in the literature thus far.

• Journal of the Korean Association of Oral and Maxillofacial Surgeons
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• v.43 no.3
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• pp.171-177
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• 2017

Amniotic constriction band is a rare clinical entity with varied manifestations that range from a combination of congenital malformations to isolated malformations that are unique to each patient. The etiology of this entity remains unknown. Herein, we highlight two cases of amniotic constriction band that presented to our unit with unique clinical characteristics. To the best of our knowledge, an isolated circumferential band of scarring on the face with ocular involvement, as demonstrated by the first case, and a combination of bilateral complete cleft lip and palate with bilateral microphthalmia, auto-amputation of the right thumb, and a constriction band on the left thumb, as demonstrated by the second case, are extremely rare presentations of amniotic constriction band that were not previously reported in the literature and therefore necessitate a special mention. We discuss potential etiologies for these cases and review the existing literature on this entity.

• Journal of Genetic Medicine
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• v.13 no.2
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• pp.59-64
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• 2016

Gaucher disease type 1 (GD1) is an inherited lysosomal storage disorder caused by deficiency of acid ${\beta}$-glucosidase. The diminished enzyme activity leads to the accumulation of substrates and results in multi-systemic manifestations including hepatosplenomegaly, anemia, thrombocytopenia, and bone diseases. Enzyme replacement therapy (ERT) by infusion of recombinant protein has been the standard treatment for over 20 years. Despite the successful long-term treatment with ERT, several unmet needs remain in the treatment of GD1 such as severe pulmonary and skeletal manifestations. Substrate reduction therapy (SRT) reduces the accumulation of substrates by inhibiting their biosynthesis. Eliglustat, a new oral SRT, was approved in United States and Europe as a first-line therapy for treating adult patients with GD1 who have compatible CYP2D6 metabolism phenotypes. Although eliglustat is not yet available in Korea, introduction and summary of this new treatment modality are provided in this paper by review of literatures. Despite the fact that there are only limited studies to draw resolute conclusions, the current data demonstrated that eliglustat is not inferior to ERT in terms of its clinical efficacy. The approval of eligustat enables eligible adult GD1 patients to have the option of oral therapy although it still needs further studies on long-term outcomes. The individual patient should be assessed carefully for the choice of treatment modality when eliglustat becomes available in Korea. Furthermore, the clinical guidelines for Korean patients with GD1 regarding the use of eliglustat needs to be developed in near future.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.6 no.1
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• pp.10-14
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• 2010

Vitamin D-resistant rickets(VDRR) is hereditary disease manifesting marked hypophosphatemia caused by renal tubular loss of phosphate into urine and an associated decrease in the calcium and phosphorous ion product. VDRR is identified by clinical symptoms, such as in the limbs, gait disturbance, dwarfism, familial occurrence, bowlegs, and knock-knees, as well as by laboratory findings. Dental findings are enlarged chambers and extension of the pulp horns into the cusp tips in both the primary and the permanent dentition in contrast to the vitamin D-deficient rickets. The major oral manifestations are multiple spontaneous abscesses in a caries-free dentition. We reported the clinical features and treatment of a 6-year-old boy with vitamin D-resistant rickets referred to the department of pediatric dentistry in Kyung Hee University for multiple spontaneous periapical abscesses and gingival fistula without severe dental caries.

• Maxillofacial Plastic and Reconstructive Surgery
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• v.36 no.1
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• pp.7-12
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• 2014

Nevoid basal cell carcinoma syndrome (NBCCS) is inherited as an autosomal dominant trait with variable conditions, including multiple basal cell carcinoma, numerous keratocystic odontogenic tumors (KOTs) in the jaws, ectopic calcification of the falx cerebri, bifid ribs, macrocephaly, kyphoscoliosis, cleft palate, frontal and temporal bossing, mild ocular hypertelorism, mild mandibular prognathism, vertebral fusion, and so on. A 16-year-old boy visited the Dong-A University Medical Center, requiring diagnosis and treatment of multiple cystic lesions. He presented with many conditions related to NBCCS, including multiple KOTs, bifid rib, cleft lip, frontal bossing, mild ocular hypertelorism, and mild mandibular prognathism. No characteristic cutaneous manifestations (nevoid basal cell carcinoma) were observed in this patient. We report on a case of multiple KOTs associated with NBCCS with a review of the literature.

• Journal of Korean Academy of Oral and Maxillofacial Radiology
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• v.16 no.1
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• pp.7-17
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• 1986

치성종양은 악구강계 영역의 질환 중 중요한 관심거리가 되어왔으며, 이중 상피성 치성종양에 관한 보고는 많으나, 중배엽성 치성종양에 관한 보고는 많이 이루어지지 않았다. 저자는 1975년부터 1985년까지 서울대학교병원 치과진료부에서 방사선학적, 병리학적으로 중배엽성 치성종양인 치성섬유종, 치성점액종, 백악질형성섬유종으로 진단된 증례들을 토대로 하여 연구, 분석한 결과 다음과 같은 결과를 얻었다. 1. 치성섬유종의 연령분포는 32세에서 72세로 광범위 하였으며, 발생위치는 모두 상악구치부이었고, 단방성이 2증례, 다방성이 1증례이었다. 2. 치성점액종의 연령분포는 40세에서 55세로 비교적 중년층에서 호발했고, 4증례가 상악에, 2증례가 하악에 발생하였다. 6증례 모두 방사선학적으로 다방성 방사선투과성을 보였으며, 경계는 비교적 불분명하였다. 3. 백악질형성섬유종은 주로 ?년에서 중년 성인 사이에 많이 발행하였고 40대에 가장 많은 출현율을 보였다. 남녀비는 약 1:2로 여자에게서 빈발하였다. 19증례중 하악에 15증례, 상악에 4증례가 발생하여, 하악이 호발부위였으며, 상하악 소구치, 대구치 부위에 발생하였다. 방사선학적으로 방사선투과성이 2증례, 혼합성이 12증례, 방사선불투과성이 5증례이었다.

• Journal of the korean academy of Pediatric Dentistry
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• v.24 no.1
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• pp.293-299
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• 1997

Wiskott-Aldrich syndrome is a rare, hereditary disease occurring in males and was first described in 1937. It is characterized by cutaneous eczema, thrombocytopenic purpura and an increased susceptibility to infection due to an immunologic defect. Patients with Wiskott-Aldrich syndrome have a poor antibody response to polysaccharide antigens, low levels of IgM and high levels of IgA and IgE in serum. Oral manifestations of Wiskott-Aldrich syndrome was observed a spontaneous gingival bleeding, palatal petechiae, ulcer and gingival hyperplasia. We report on dental treatment of a 5 years old boy with severe spontaneous gingival bleeding and ulcer suffered from Wiskott-Aldrich syndrome. Prophylactic antibiotics to prevent infection and all potential measures including platelet concentrate therapy to prevent postoperative bleeding should be undertaken. Good oral hygiene should be maintained for prevention of infection by oral normal flora.

• Journal of Korean Academy of Oral and Maxillofacial Radiology
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• v.13 no.1
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• pp.97-105
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• 1983

For the assessment of changes in the bone architecture of the maxilla and mandible in renal osteodystrophy, 31 chronic renal failure patients who were undergoing hemodialysis therapy were selected. They were evaluated through clinical oral examination, radiographic and biochemical examination. The results were as follows: 1. In 17 cases (54.8%), there were evidences of bony change in jawbone. 2. The most common dental radiographic finding was decreased bone density (14 cases, 45.2%). 3. The second most common dental radiographic finding was total or partial loss of lamina alveolar dura (11 cases, 35.5%). 4. The third most common dental radiographic finding was total or partial loss of inferior canal wall (8 cases, 25.8%). 5 cases showed evidences of bony change only in jawbone, and 5 cases only in hand, and 12 cases in both. 6. Serum creatinine, urea nitrogen and alkaline phosphatase values in hemodialysis group were much higher than in control group. 7. There were statistically significant correlation between bone density and lamina dura, and inferior alveolar canal wall.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.1 no.1
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• pp.33-36
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• 2005

Manifestations in tuberous sclerosis such as seizure, mental retardation, end-stage renal disease (ESRD), and heart problems present a number of challenges to the dentist and anesthesiologist. Lack of cooperation in addition to the severe medical condition makes dental treatment more difficult. General anesthesia is often required for mentally and physically handicapped patients undergoing extensive dental treatment. We experienced a case of dental treatment under general anesthesia in a 36-year-old male patient with tuberous sclerosis associated with ESRD and mental retardation. He was treated on an outpatient basis followed by hemodialysis without any complications.

• The Journal of Korea Assosiation for Disability and Oral Health
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• v.7 no.2
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• pp.115-118
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• 2011

Angelman syndrome(AS) is a rare genetic neurological disorder. The main clinical characteristics of this syndrome are delayed neuropsychological development, intellectual disability, speech impairment, jerky movements especially hand-lapping, frequent laughter or smiling. AS is a classic example of genetic imprinting in that it is usually caused by deletion or inactivation of genes on the maternally inherited chromosome 15. The syndrome has oral manifestations such as diastemas, tongue thrusting, sucking/swallowing disorder, mandibular prognathism, frequent drooling, and excessive chewing behavior. The purpose of this paper is to describe the interesting aspects of the dental treatment of a childe with AS.