title: A case of osteosarcoma in a patient with pycnodysostosis.
abstract: 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.
authors.affiliation: Department of Pediatrics, Division of Hematology/Oncology, Clinique CHR de la Citadelle, Liège, Belgium.
authors.forename: Natasha
authors.initials: N
authors.lastname: Cortisse
authors.forename: Patricia
authors.initials: P
authors.lastname: Forget
authors.forename: Marie F
authors.initials: MF
authors.lastname: Dresse
authors.forename: Benoit
authors.initials: B
authors.lastname: Florkin
authors.forename: Eric
authors.initials: E
authors.lastname: Mascard
authors.forename: Jean M
authors.initials: JM
authors.lastname: Guinebretière
authors.forename: Laurence
authors.initials: L
authors.lastname: Brugières
authors.forename: Claire
authors.initials: C
authors.lastname: Hoyoux
mesh_terms: D000328:Adult; D005266:Femoral Neoplasms / Q000209:etiology*; D006801:Humans; D008297:Male; D012516:Osteosarcoma / Q000209:etiology*; D058631:Pycnodysostosis / Q000150:complications*