RESUMO
Van Buchem's disease is a rare pathology with recessive transmission and variable expressivity characterised by a progressive cortical bone deposition. There are two types of this disease: Type I (Van Buchem's disease) progressive form for all life and with high level of PA (alkaline phosphate); Type II (Worth disease) the pathologic bone deposition stops at 20 years of age and the level of PA in the adult is normal. The most important histological feature is the bone hypertrophy with preservation of the lamellar frame. The bones interested are: skull vault, mandible, ribs, clavicle and diaphyseal portion of long bones. The first clinical manifestation became evident in childhood with progressive course. The narrowing of the cranial foramen is responsible of the progressive cranial nerves compression and the subsequent neurological signs. The disease is incurable; surgical treatment aims to reduce the intracranial pressure and to correct bones deformity. A clinical case in which the patient treated has esthetic problems but not neurological signs is presented.
Assuntos
Hiperostose Cortical Congênita/classificação , Anormalidades Maxilofaciais/classificação , Adulto , Feminino , Humanos , Hiperostose Cortical Congênita/diagnóstico , Hiperostose Cortical Congênita/genética , Hiperostose Cortical Congênita/cirurgia , Anormalidades Maxilofaciais/diagnóstico , Anormalidades Maxilofaciais/genética , Anormalidades Maxilofaciais/cirurgia , Cintilografia , Crânio/diagnóstico por imagem , Tomografia Computadorizada por Raios XRESUMO
A case of recurrent infantile cortical hyperostosis in a 3 1/2 year-old girl is reported. Nine other late cases have been previously described. When compared with Caffey's disease, this delayed form of the illness constitutes a distinct homogeneous syndrome of unknown etiology.
Assuntos
Hiperostose Cortical Congênita , Pré-Escolar , Feminino , Humanos , Hiperostose Cortical Congênita/classificação , Hiperostose Cortical Congênita/diagnóstico , Hiperostose Cortical Congênita/diagnóstico por imagem , RadiografiaAssuntos
Doenças do Desenvolvimento Ósseo/classificação , Hiperostose Cortical Congênita/classificação , Adolescente , Adulto , Idoso , Doenças do Desenvolvimento Ósseo/diagnóstico por imagem , Doenças do Desenvolvimento Ósseo/etiologia , Criança , Pré-Escolar , Diagnóstico Diferencial , Feminino , Humanos , Hiperostose Cortical Congênita/diagnóstico por imagem , Hiperostose Cortical Congênita/etiologia , Masculino , Pessoa de Meia-Idade , Radiografia , EscleroseRESUMO
Six of 41 presumed cases of Van Buchem disease described in the literature fit uniform diagnostic criteria. Segregation analysis of these 6 cases, in addition to another the authors report, supports a recessive mode of inheritance. Genetic heterogeneity is confirmed by the demonstration of a dominantly-inherited phenotype resembling Van Buchem disease. The probable etiology is a defect in the endochrondral modulatory step regulating transformation of osteoclast to osteoblast.
