title: [Otolaryngological aspects of Camurati-Engelmann disease (progressive diaphyseal dysplasia): review of literature and report of one case].
abstract: Camurati-Engelmann's disease (progressive diaphyseal dysplasia) is a rare hereditary condition characterized by symmetrical hyperostosis of the long bones and the skull-base, myopathies and neurological disturbances. So far, little more than one hundred cases have been reported. The diagnosis is based on radiological imaging (traditional X rays and CT scan) and family history. Our patient (a 15-year-old male) had high-grade skull-base hyperostosis producing audiological signs, such as progressive deafness, persistent otorrhea and otalgia with progressive stenosis of the external acoustic meatus.
authors.affiliation: Universidad Católica del Sagrado Corazón de Jesús, Policlínico Agostino Gemelli, Roma, Italia.
authors.forename: G
authors.initials: G
authors.lastname: Paludetti
authors.forename: A
authors.initials: A
authors.lastname: Galli
authors.forename: R
authors.initials: R
authors.lastname: Lombardi
authors.forename: G
authors.initials: G
authors.lastname: Almadori
authors.forename: F X
authors.initials: FX
authors.lastname: Pujolas
authors.forename: M
authors.initials: M
authors.lastname: Maurizi
mesh_terms: D000293:Adolescent; D017668:Age of Onset; D001299:Audiometry; D003966:Camurati-Engelmann Syndrome / Q000150:complications / Q000175:diagnosis* / Q000473:pathology; D003638:Deafness / Q000209:etiology / Q000503:physiopathology; D004427:Ear Diseases / Q000175:diagnosis / Q000209:etiology / Q000503:physiopathology; D004429:Ear Ossicles / Q000503:physiopathology; D006801:Humans; D008297:Male; D009900:Optic Nerve / Q000503:physiopathology; D013701:Temporal Bone / Q000473:pathology*; D014057:Tomography, X-Ray Computed
vernacular_title: Aspectos otorrinolaringológicos de la enfermedad de Camurati-Engelmann (displasia diafisaria progresiva): revisión de la literatura y descripción de un caso.