Journal of the korean academy of Pediatric Dentistry (대한소아치과학회지)

Korean Academy of Pediatric Dentistry (대한소아치과학회)
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PYKNODYSOSTOSIS : A CASE REPORT

Pyknodysostosis 환아의 구강증상: 증례보고

  • Kim, Nam-Hyuk (Department of Pediatric Dentistry and Oral Science Research Center, College of Dentistry, Yonsei University) ;
  • Lee, Jae-Ho (Department of Pediatric Dentistry and Oral Science Research Center, College of Dentistry, Yonsei University) ;
  • Kim, Seong-Oh (Department of Pediatric Dentistry and Oral Science Research Center, College of Dentistry, Yonsei University) ;
  • Choi, Hyung-Jun (Department of Pediatric Dentistry and Oral Science Research Center, College of Dentistry, Yonsei University) ;
  • Song, Je-Seon (Department of Pediatric Dentistry and Oral Science Research Center, College of Dentistry, Yonsei University)
  • 김남혁 (연세대학교 치과대학 소아치과학교실, 구강과학연구소) ;
  • 이제호 (연세대학교 치과대학 소아치과학교실, 구강과학연구소) ;
  • 김성오 (연세대학교 치과대학 소아치과학교실, 구강과학연구소) ;
  • 최형준 (연세대학교 치과대학 소아치과학교실, 구강과학연구소) ;
  • 송제선 (연세대학교 치과대학 소아치과학교실, 구강과학연구소)
  • Published : 2009.11.30
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Abstract

Pyknodysostosis(PKND) is a rare sclerosing bone disorder that has an autosomal recessive trait, also known as Toulouse-Lautrec syndrome. Deficiency of the cathepsin enzyme K in the osteoclasts of PKND patients results in continuous endosteal bone deposits without osteoclastic resorption or remodeling. This causes a generalized increase in sclerosis and fragility of bones. Osteomyelitis in the mandible and recurrent fracture of the long bones are characteristic complicatons of PKND. The patients present typical features of PKND, such as short stature under 150 cm, open cranial suture and fontanelle, club-shaped phalanges, and underdevelopment of midface. This is a case of a 7-year-old girl with PKND, who visited our clinic with the chief complaint of anterior Open-bite and generalized crowding. The patient had been diagnosed as PKND by an orthopedist and manifested characteristic clinical and radiographic features, such as open cranial suture and fontanelle, obtuse madibular gonial angle, frontal and occipital bossing, grooved palate, club-shaped phalanges, and short stature. Orthodontic treatment was not considered because patients with PKND show abnormal bone resorption and remodeling. Instead, removal of deciduous teeth near exfoliation and TFA were performed, and periodic check-up is planned to maintain good oral hygiene.

Pyknodysostosis(PKND)는 파골세포의 기능 이상으로 인해 발생하는 상염색체 열성의 매우 드문 경화성 골질환으로 Toulouse-Lautrec syndrome으로 불리기도 한다. PKND의 원인으로는 파골세포 내 cathepsin K의 결핍으로 인해 파골세포의 골개조와 골흡수 기능의 실패가 생기게 되어 연골의 축적과 과도한 골의 광화가 나타나는 것으로 알려져 있는데, 이로 인해 골수염의 위험이 높고 빈번한 골의 파절이 나타난다. 150 cm 이하의 작은 신장, 개방된 천문과 두개골 봉합의 실패, 곤 봉형의 손가락과 중안모의 발달이 저하된 특징적인 안모를 보인다. 본 증례는 전반적인 총생과 전치부 개방교합을 주소로 본과에 내원한 7세 1개월의 여아로, 정형외과에서 PKND로 진단받은 상태였다. 임상 및 방사전 사진 검사상 천문과 두개골 봉합 폐쾌의 실패, 곤봉모양의 손가락, 구개의 고랑,짧은사지와 작은 신장 등의 PKND의 전형적인 임상적 특성을 나타내고 있었다. 비정상적인 골흡수와 골재생기능의 문제로 주소인 총생과 개방교합에 대한 교정적 처치는 시행하지 못했다. 탈락 시기의 유치 발거와 불소도포를 시행한 후 정기 검진을 시행 중인 상태로 PKND에 대한 문헌고찰과 함께 본 증례를 보고하고자 한다.

Keywords

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