Clinical and radiographic features of pycnodysostosis: A case report

Abstract

Pycnodysostosis is a rare disorder that was first described in 1962; however, it was only in 1996 that the defective gene was discovered, which led to a better understanding of this disease. This study reports and discuss a case of pycnodysostosis. In addition, a search of articles published in PubMed-Medline was performed. The case was a 13-year-old girl who was referred to a private clinic for dental treatment. Clinical examination showed midface hypoplasia, prominent cheeks, a high nasal bridge, beaked nose, spoon-shaped fingers, frontal bossing, open fontanelles and dental alterations, findings compatible with pycnodysostosis. Patients with this disease also suffer from fractures because of bone hardness with almost no elasticity, a fact that requires special care particularly in the case of children and adolescents. The diagnosis of pycnodysostosis is made based on clinical and radiographic findings. Clinicians should be aware of this disorder to provide adequate dental treatment. Key words:Pycnodysostosis, developmental bone disease, imaging diagnosis.

A rare case of pycnodysostosis: Technical difficulties in managing long bone fractures

“…Short stature, osteosclerosis, micrognathia, open fontanelles, irregular teeth with hypodontia, grooved palate, obtuse angle of the mandible, acroosteolysis of the terminal phalanges causing short finger tips and grooved nails are the characteristic features of this disorder. 5 Patient may also present with deformities like coxa vara, coxa valga, genu varum, genu valgum, kyphosis and scoliosis. For an orthopedician, frequent fractures, sclerotic and deformed bones with narrow medullary canal are the important things to be taken into consideration.…”

Two cases with pycnodysostosis in a family: a case report

“…Beaked nose, groove in midpalate, midfacial hypoplasia, mandibular hypoplasia and overcrowded teeth and obtuse mandibular gonial angle are common findings. 13 The differential diagnosis is established with osteopetrosis, cleidocranial dysplasia and idiopathic acro-osteolysis, osteogenesis imperfect and mandibuloacral dysplasia. 14,15 There is no specific treatment for this anomaly and the current treatment is only supportive.…”

Multiple Fractures and Impaired Bone Fracture Healing in a Patient with Pycnodysostosis and Hypophosphatasia

“…We report a 29-year old woman clinically diagnosed with PYCD in early childhood who has encountered over 30 fractures with delayed healing and most resulted in non-union. At the age of 25 years, we observed persistently low levels of alkaline phosphatase (ALP), an uncommon biochemical finding of PYCD [2,4,8,[16][17][18]. Genetic analysis identified the coexistence of a novel presumed pathogenic heterozygous variant in ALPL.…”

“…Pycnodysostosis (PYCD) is an inborn recessive skeletal dysplasia with a prevalence of 1-1.7 per million [1,2]. The disease is caused by Cathepsin K (CTSK) deficiency encoded by CTSK [3].…”