Abstract
Pycnodysostosis is an autosomal recessive disorder that manifests as osteosclerosis of the skeleton due to the defective osteoclasts mediated bone turnover. The diagnosis of this disorder is established on the basis of its characteristic features and must be differentially diagnosed with other bone disorders. Dental surgeons should be aware of the limitations and possible adverse oral complications such as osteomyelitis of bone in these patients. This will guide them in planning realistic treatment goals. This paper reports the clinical and radiographic features of pycnodysostosis with the great emphasis on its dentofacial characteristics. The aim of this case report is to give an insight into the etiology, pathogenesis, and differential diagnosis of this disorder and to prepare the dentists and maxillofacial surgeons to overcome the challenges in treating these patients.
Highlights
Pycnodysostosis is a rare genetic disorder of the bone caused by a mutation in the gene that codes the enzyme cathepsin K and has been mapped on chromosome 1q21 [1, 2]
The major clinical characteristics of the patients presenting with pycnodysostosis include short stature, multiple fractures of bones, craniofacial anomalies including dolichocephalic skull with patent fontanelles, frontal or occipital bossing of the head, dysplastic clavicles, unusually short distal phalanges, hypoplastic maxillary bone, and an obtuse mandibular gonial angle [3,4,5,6]. Dental features of this disorder may include retained deciduous dentition, delayed eruption of permanent dentition, crowded and malposed teeth, extremely narrow and grooved palate, anterior crossbite, lateral open bite, hypodontia, enamel hypoplasia, abnormal tooth morphology, dilacerated and hypoplastic root apices, and poor oral hygiene [3, 6]. The aim of this case report is to present the clinical and radiographic features of pycnodysostosis with special emphasis given on the associated dentofacial characteristics
The incidence is estimated to be 1.7 per million births [11]. It was first described by Maroteaux and Lamy [5], in 1962, and is called Toulouse-Lautrec syndrome after the French artist and painter Henri de Toulouse Lautrec, who suffered from this disorder [12, 13]
Summary
Pycnodysostosis is a rare genetic disorder of the bone caused by a mutation in the gene that codes the enzyme cathepsin K and has been mapped on chromosome 1q21 [1, 2]. The major clinical characteristics of the patients presenting with pycnodysostosis include short stature, multiple fractures of bones, craniofacial anomalies including dolichocephalic skull with patent fontanelles, frontal or occipital bossing of the head, dysplastic clavicles, unusually short distal phalanges, hypoplastic maxillary bone, and an obtuse mandibular gonial angle [3,4,5,6] Dental features of this disorder may include retained deciduous dentition, delayed eruption of permanent dentition, crowded and malposed teeth, extremely narrow and grooved palate, anterior crossbite, lateral open bite, hypodontia, enamel hypoplasia, abnormal tooth morphology, dilacerated and hypoplastic root apices, and poor oral hygiene [3, 6]. The potential morbidity with any surgical intervention cannot be overlooked
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