• The Journal of Korea Assosiation for Disability and Oral Health
• /
• v.4 no.2
• /
• pp.77-81
• /
• 2008

골화석증(Osteopetrosis)은 전신의 뼈가 대리석 모양으로 골 경화를 일으키며 골수강의 폐쇄 및 골의 취약성을 보이는 드문 질환이다. 성인형(Adult form)은 우성 유전되며 경미한 증상을 나타낸다. 반면에 유아형(Infantile form)은 열성 유전되면서 심각한 증상을 나타내고, 조기에 사망에 이를 수도 있다. 골화석증은 골격계, 조혈계, 신경계에서 다양한 증상을 유발한다. 본 증례의 목적은 드물게 발생하는 유아형 골화석증을 가진 2 명의 환아를 치료한 후, 그 질환과 치과적 관리에 대해 고찰하고자 함이다. 첫 번째 증례는 골화석증으로 진단된 5세 8개월 남환이었다. 임상 및 방사선 검진 결과 악골 및 치아의 변형을 나타내었으나, 특별한 병적 소견이 없어 예방 치료 및 주기적인 검진 시행하였다. 두 번째 증례는 중증도의 치아우식증을 가진 환아로 의료진과의 협조 하에 수혈한 후 발치하였다. 유아형 골화석증은 다양한 구강 합병증을 유발하며, 질환의 심각성에 의해 치료 자체도 어렵다. 치과의사로서 골화석증 환아를 관리할 때에는 건전한 구강 상태를 유지하기 위한 지속적인 관심과 예방 치료가 필요하며, 아무리 간단한 발치나 치과 술식이더라도 의료진과 협조를 해야 한다.

• Journal of the korean academy of Pediatric Dentistry
• /
• v.26 no.3
• /
• pp.473-478
• /
• 1999

Osteopetrosis is an uncommon hereditary bone condition characterized by a generalized symmetric increase in skeletal density and abnormalities of bone resorption remodeling. In 1904, the first case of generalized sclerosis of the skeleton was reported by $Albers-Sch\ddot{o}nberg$. Osteopetrosis is generally divided into two main type. The infantile(malignant, congenita) type is the most severe form of the disease; It is characterized by skeletal and hematologic abnormalities. The adult(benign, tarda) type which is usually diagnosed in the third or fourth decade of life is limited predominantly to skeletal anomalies and it carries a more favorable prognosis. The recently recognized intermediate form with its mild and variable clinical recessive trait. There is no reported gender or racial predilection. The characteristic feature of osteopetrosis which is an abscence of physiologic bone resorption results in accumulation of bone mass and mainfests skeletal disturbance. Dental finding of osteopetrosis includes delayed eruption, congenitally absent teeth, unerupted and malformed teeth, and enamel hypoplasia. Our report involves a patient with a chief complaint of tooth mobility and delayed eruption. After clinical and radiologic examination, this patient was referred to dept. of pediatrics under the suspicion of osteopetrosis and it was confirmed.

• Clinical and Experimental Pediatrics
• /
• v.50 no.11
• /
• pp.1129-1133
• /
• 2007

Osteopetrosis, a rare osteosclerotic bone disease characterized by a defect in osteoclast function and the reduced generation of superoxide by leukocytes, can be classified into several types based on their mode of inheritance, age of onset, severity, and associated clinical symptoms. Stem cell transplantation is the only curative therapy for the infantile malignant type, although alternative treatments, such as corticosteroids, calcitriol, and interferon (IFN)-${\gamma}$ have been attempted in patients with milder clinical types. In addition, IFN-${\gamma}$ therapy has been reported to increase bone resorption and hematopoiesis and to improve leukocyte function. Here, we present the cases of two patients with osteopetrosis who benefited from either 3 or 6 years of INF-${\gamma}$ therapy that resulted in improved blood counts and no further pathological fractures.

• Journal of the korean academy of Pediatric Dentistry
• /
• v.45 no.2
• /
• pp.257-264
• /
• 2018

Osteopetrosis is characterized by impaired osteoclast function and increased bone density. Infantile osteopetrosis is a severe form of the disease and has characteristics such as diffusely sclerotic skeleton, pancytopenia, cranial nerve entrapment, infection susceptibility, and abnormal craniofacial appearance. Patients with infantile osteopetrosis often experience developmental delay, and may have a short life span. A 14-month-old girl with osteopetrosis presented to the department of pediatric dentistry. Incipient caries on deciduous incisors were observed. The patient revisited 4 years of age. Besides medical problems, oral complications such as growth retardation, narrow upper arch, crowding, dental caries, and abnormal tooth development were observed. After consultation with her pediatrician, dental treatments were performed on the deciduous molars under sedation after a prophylactic antibiotic injection. At a periodic follow-up, multiple deciduous teeth were treated and extracted, and oralrehabilitation with a removable partial denture was initiated. Patient with osteopetrosis are highly susceptible to infection because of their compromised immune system and problems associated with wound healing that lead to osteomyelitis or sepsis development. Active participation in dental care for sugar intake management and proper oral hygiene are obligatory.

• Pediatric Infection and Vaccine
• /
• v.23 no.1
• /
• pp.72-76
• /
• 2016

Infantile osteopetrosis is a rare congenital disorder caused by abnormal bone resorption. Patients with osteopetrosis can have severe anemia, thrombocytopenia, hepatosplenomegaly, rickets, visual impairment, and deafness. Cytomegalovirus also can cause a congenital infection with anemia, thrombocytopenia, hepatosplenomegaly, and calcifications in the brain. We report a 38-day-old infant with severe hepatosplenomegaly, thrombocytopenia, hypocalcemia, and growth failure. Real time polymerase chain reaction detected cytomegalovirus in the plasma. Skeletal radiography revealed generalized bone sclerosis. He was diagnosed with osteopetrosis along with cytomegalovirus infection. Only the test for mutation of the CLCN7 gene, representing the most common and heterogeneous form of osteopetrosis, was available, and the result was negative. With supportive care and antiviral treatment, severe thrombocytopenia due to the cytomegalovirus infection almost normalized despite the possible immunosuppression caused by osteopetrosis. We present the first report of an infant who suffered from osteopetrosis and CMV infection which was successfully treated by long term antiviral agent therapy.

• Journal of Korean Academy of Oral and Maxillofacial Radiology
• /
• v.21 no.2
• /
• pp.405-413
• /
• 1991

The authors observed a 33-year-old male patient who had suffered from osteopetrosis with maxillary osteomyelitis. The obtained results were as follows: 1. Physical examination revealed hepatosplenomegaly and bowing legs. 2. Nearly all bones of the entire skeleton showed unusual increased radiodensity and the paranasal sinuses were markedly obliterated. 3. There were seveal old fractured sites in the femur and hip bones and subluxation of hip joint. 4. The radiodensity of both jaws were prominently increased and there were many malformed teeth and impacted teeth. 5. Bone scan revealed multiple, irregularly increased uptakes in large joints and long bones.

• Maxillofacial Plastic and Reconstructive Surgery
• /
• v.14 no.4
• /
• pp.269-274
• /
• 1992

Osteopetrosis is a rare skeletal disease of unknown etiology. Osteomyelitic changes in the jaw bones are frequently seen in this disease, especially in the mandible and may follow upon tooth extraction. A case is reported of a 31-year-old male who was seen because of intraorally exposed bony spicule and chronic dull pain. Radiographic and haematological investigations led to the diagnosis of osteopeirosis with osteomyelitis. The striking radiologic findings were pathologic mandibular fracture and generalized skeletal thickening. The present case could be grouped under the benign form, type II osteopetrosis. With the conservative and minimally invasive modes of treatment including administration of penicillin G sodium, curettage and closed reduction, we could successfully manage the osteomyelitis and pathologic fracture associated osteopetrosis.

• Journal of Oral Medicine and Pain
• /
• v.24 no.1
• /
• pp.1-8
• /
• 1999

The authors experienced a diagnosis of a benign form of osteopetrosis based on the comprehensive data obtained from (1) clinical examination, (2) radiological and nuclear medicinal findings of the thickening of cortex of mandible, femur, clavicle, and the increased bone density of mandible, maxilla, cranial base, calvarium, lumbar, femur, and additionally (3) histopathological findings of sclerotic bony tissue in a Korean male of 38-year-old.

• The Korean Journal of Nuclear Medicine
• /
• v.24 no.2
• /
• pp.299-306
• /
• 1990

골 신티그라피에서 신장이 희미하게 보이거나 전혀 안보이게 되는(이하 신장 영상 비출현이라 함) 원인 질환을 파악하고, 또 골 신티그라피에서 골전이가 발견된 여러 악성종양에서 신장 영상 비출현의 빈도 및 신장 영상 비출현의 소견을 보이는 여러 악성종양의 골전이 범위를 관찰하기 위하여, 서울대학교 병원에서 최근 6년간 시행한 골 신티그람 중 신장 영상 비출현의 소견을 보이는 889개를 재검토하였다. 신장영상 비출현의 원인 질환으로는 신부전이 대부분을 차지하였으나(816/889 : 91.8%), 신장 질환이 없는 경우에서는 광범위한 골전이가 가장 많았으며 (53/889 : 6.0%), 그 원발부위는 전립선암 (19/53 : 35.8%), 위암(14/53 : 26.4%), 유방암(5/53 : 9.4%), 폐암(4/53 : 7.5%) 신세포암(2/53 : 3.8%), 방광암(1/53 : 1.9%), 원발부위 미상(8/53 : 15.1%)으로 전립선암과 위암이 가장 많았다. 특히 강직성 척추염 4예, 류마토이드 관절염 3예, 성인형의 골화석증 1예에서 신장 영상 비출현의 소견을 보여 이채로왔으며, 이 밖에 원발성 부갑상선 기능항진증 및 그레이브스병이 각 1예씩 있었으며 원인을 알 수 없는 경우가 10예 있었다. 전립선암 140예중 골 신티그라피에서 골전이가 발견된 예는 108예(77.1%), 이중 신장 영상 비출현의 소견을 보이는 예는 19예(19/108, 17 6%)이었으며, 위암에서는 각각 328예, 162예(49.4%), 14예 (8.6%), 유방암에서는 각각 1754예, 730예 (41.6%), 5예(0.7%), 폐암에서는 각각 1105예, 596예(53.9%), 4예(0.7%), 방광암에서는 각각 247예, 110예(44.5%), 1예(0.9%)로 전립선암에서 신장 영상 비출현의 빈도가 가장 높았으며, 특히 위암에서 골전이 및 신장 영상 비출현의 빈도가 높아 주목되었다. 골전이 및 신장 영상 비출현의 소견을 보이는 악성종양 환자의 골 신티그람 53개중 44개 (83.0%)에서 척추 및 늑골에 미만성, 또는 다발성 침습이 관찰되었다. 또 골전이 부위를 두개골, 척추, 견대부, 늑골, 골반, 사지의 근위부 장골의 6개 부위로 나누어 분석할 경우 49개(92.5%)에서 3부위 이상에 전이가 발견되었고, 35개(66.0%)에서 4부위 이상에 전이가 발견되었으며, 5부위 이상, 6개 부위에 모두 전이가 발견된 것은 각각 20개 (37 7%), 11개(20.8%)이었다. 이상의 성적으로 보아 악성종양 환자의 골 신피그라피에서 신장 영상의 비출현은 종양의 광범위한 골전이를 간접적으로 시사하는 소견으로 생각된다. 여러 악성종양중 전립선암에서 신장 영상 비출현의 빈도가 가장 높았으며, 특히 위암에서 골전이 및 신장 영상 비출현의 빈도가 높음은 주목할 만한 것이라 하겠다.

• Imaging Science in Dentistry
• /
• v.30 no.1
• /
• pp.80-86
• /
• 2000

A 37-year-old male with the complaint of intermittent gingival swelling and dull pain associated with the food impaction of the mandibular third molar area was referred to our department of Chonbuk National University Hospital. The dental history of the patient showed that he had extracted the maxillary left third molar without complications two years ago. Intraoral and panoramic radiographs showed diffuse increased radiopacity of the maxilla and mandible. The trabecular pattern was obliterated. Postero-anterior skull and lateral skull radiographs showed thickening of cortical bone and diffuse increased radiopacity of the skull. Additional radiographs showed similar changes in the lumbar spine, clavicles, iliac bone and femur. However, no evidence of osteomyelitis was observed clinically and radiographically. Laboratory findings showed normal values of serum calcium, phosphorus, and alkaline phosphatase. Based on the radiographic examinations and the laboratory findings, final diagnosis was made as a benign osteopetrosis.