Journal of the Korean Academy of Pediatric Dentistry 2009;36(4):619-624.
Published online November 30, 2009.
연세대학교 치과대학 소아치과학교실, 구강과학연구소 
Pyknodysostosis 환아의 구강증상: 증례보고
김남혁, 이제호, 김성오, 최형준, 송제선
연세대학교 치과대학 소아치과학교실, 구강과학연구소
Correspondence:  , 
Received: 22 September 2009   • Accepted: 11 November 2009
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.
Key Words: Pyknodysostosis, Osteoclast cell, Cathepsin K

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