Pycnodysostosis is a rare sclerosing bone dystrophy. The main clinical features are short stature and oral and maxillofacial abnormalities such as a large head, a small and underdeveloped face with prominent nose and eyes, irregular dentition, small hands and feet with dystrophic nails, and trunk deformities such as scoliosis. The differential diagnosis is established with other skeletal dysplasias such as osteopetrosis, cleidocranial dysplasia, and idiopathic acro-osteolysis. Since its first description in 1962 by Maroteaux and Lamy, about 100 cases have been published, some of these with uncommon features. We describe the case of a 22-year-old European man with pycnodysostosis who developed a chondroblastic osteosarcoma of the right femur. No case of bone cancer in this sclerosing bone disease had been described so far.
*Department of Pediatrics, Division of Hematology/Oncology, Clinique CHR de la Citadelle, Liège, Belgium
†Department of Orthopaedic Surgery, Clinique ARAGO, Paris
‡Department of Pathology, Centre René-Huguenin, Sain Cloud
§Department of Pathology, Institut Gustave Roussy, Villejuif, France
The authors declare no conflict of interest.
Reprints: Claire Hoyoux, MD, Department of Pediatrics, Division of Hematology/Oncology, Clinique CHR de la Citadelle, Bd 12ème de Ligne 1, B-4000 Liège, Belgium (e-mail: firstname.lastname@example.org).
Received March 13, 2011
Accepted February 1, 2012