title: Bone abnormalities occurring in the follow-up of the patients with neurofibromatosis type 1.
abstract: Neurofibromatosis type 1 (NF1), also called von Recklinghausen disease or peripheral neurofibromatosis, is a common autosomal dominant disorder characterized by multiple neurofibromas, "café au lait" spots and Lisch nodules of the iris with a variable clinical expression. Osseous anomalies appeared in the patients with NF1 including dysplasia, scoliosis and pseudoarthrosis. We propose a research of the osseous involvement at 11 patients, seven female and four male with ages from 9 to 60 at which the cutaneous aspect has the complete form, hyperpigmented spots and cutaneous neurofibromas and only more than six "café au lait" spots. All the patients suffered radiological exams, CT- and MRI-scan. The results were different from case to case from the extreme severe deformations, especially at the children, to clinical unapparent osseous involvement, incidental found or with occasion of our investigation. CONCLUSIONS. The patients with NF1 has osseous abnormalities specific of the disease, like dysplasia, scoliosis, pseudoarthrosis, often gentle but sometimes extremely severe. The most severe osseous involvement are presented in the cases when these development early in the childhood. Other times the osseous abnormalities are clinical asymptomatic, their finding been clinical incidental. We want to have a separate mention for the maxillary and mandible involvement, which according to our information is not a rare form.
authors.affiliation: Department of Internal Medicine, Emergency County Hospital of Craiova, University of Medicine and Pharmacy of Craiova, Romania. efgmed@yahoo.fr
authors.forename: E F
authors.initials: EF
authors.lastname: Georgescu
authors.forename: Ligia
authors.initials: L
authors.lastname: Stănescu
authors.forename: Ana Claudia
authors.initials: AC
authors.lastname: Georgescu
authors.forename: Daniela
authors.initials: D
authors.lastname: Dumitrescu
authors.forename: Claudia
authors.initials: C
authors.lastname: Foarfă
authors.forename: G
authors.initials: G
authors.lastname: Călin
mesh_terms: D000293:Adolescent; D000328:Adult; D001847:Bone Diseases / Q000000981:diagnostic imaging / Q000209:etiology*; D019080:Cafe-au-Lait Spots / Q000150:complications / Q000473:pathology; D002648:Child; D015331:Cohort Studies; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008297:Male; D008875:Middle Aged; D009456:Neurofibromatosis 1 / Q000150:complications* / Q000000981:diagnostic imaging / Q000473:pathology; D011859:Radiography; D012878:Skin Neoplasms / Q000150:complications* / Q000000981:diagnostic imaging / Q000473:pathology