RESUMO
El término "distrofia ósea esclerosante mixta" describe la combinación de las características radiológicas correspondientes a melorreostosis, osteopoiquilosis y osteopatía estriada, como entidades individuales, que ocurren en un mismo paciente. El objetivo de esta comunicación es presentar el caso clínico de una paciente con diagnóstico de distrofia ósea esclerosante mixta y, a partir de este caso, realizar una revisión sobre el tema. (AU)
The term "mixed-sclerosing-bone-dystrophy" describes the combination of the radiological characteristics corresponding to melorheostosis, osteopoikilosis and osteopathia striata, as individual conditions, ocurring in the same patient. The aim of this communication is to present the clinical case of a patient diagnosed with mixed-sclerosing-bone-dystrophy and, based on this case, to undertake a review of this condition. (AU)
Assuntos
Humanos , Feminino , Adulto , Osteopecilose/diagnóstico , Doenças Ósseas Metabólicas/diagnóstico , Melorreostose/diagnóstico , Osteíte Deformante/diagnóstico , Osteíte Deformante/tratamento farmacológico , Osteíte Deformante/sangue , Osteopecilose/sangue , Radiologia , Tíbia/diagnóstico por imagem , Doenças Ósseas Metabólicas/sangue , Menopausa Precoce/metabolismo , Fêmur/diagnóstico por imagem , Pamidronato/administração & dosagem , Melorreostose/sangueRESUMO
BACKGROUND: Buschke-Ollendorff syndrome (BOS), an autosomal dominant disorder, features small, acquired, asymptomatic, symmetrical foci of osteosclerosis detected radiographically in epimetaphyseal bone (osteopoikilosis) (OPK) together with connective tissue nevi or juvenile elastomas. Heterozygous, loss-of-function, germline mutation in the LEMD3 gene (which encodes an inner nuclear membrane protein called LEMD3, or MAN1) has been repeatedly documented in patients with BOS or OPK. OBSERVATIONS: We describe a father and son with multiple yellowish papules and nodules coalescing into cobblestone nevoid plaques consistent with nevus elasticus. Radiographs of the father show multiple, small, bone islands within the hands, wrists, distal femurs, proximal tibias, and left distal fibula consistent with OPK. Although the clinical findings are diagnostic of Buschke-Ollendorf syndrome, analysis of the LEMD3 gene showed no exonic mutations. CONCLUSION: Absence of LEMD3 mutation in the exons and splice sites of a family with BOS suggests that there is genetic heterogeneity for this disorder.
Assuntos
DNA/genética , Melorreostose/genética , Proteínas de Membrana/genética , Mutação , Nevo/genética , Proteínas Nucleares/genética , Osteopecilose/genética , Pele/patologia , Autoantígenos , Biópsia , Criança , Proteínas de Ligação a DNA , Éxons , Família , Predisposição Genética para Doença , Humanos , Masculino , Melorreostose/sangue , Melorreostose/diagnóstico , Proteínas de Membrana/sangue , Nevo/sangue , Nevo/diagnóstico , Proteínas Nucleares/sangue , Osteopecilose/sangue , Osteopecilose/diagnóstico , Reação em Cadeia da Polimerase , SíndromeRESUMO
Melorheostosis is a rare chronic bone disease of unknown etiology that often affects lower limbs. Onset usually occurs in childhood or early adolescence. The diagnosis relies on the radiographic finding of hyperostosis within or around the cortex responsible for a "flowing wax" appearance. To our knowledge, Fibroblast growth factor-23 (FGF-23) levels have not yet been quantified in melorheostosis. We report an unusual case of this disease for whom the diagnosis of fibrous dysplasia had been wrongly made for a long period of time and the FGF-23 concentration has been found very high without any disturbance of serum phosphate.
