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- W2155432860 abstract "<h3>Background</h3> 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<i>LEMD3</i>gene (which encodes an inner nuclear membrane protein called LEMD3, or MAN1) has been repeatedly documented in patients with BOS or OPK. <h3>Observations</h3> 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<i>LEMD3</i>gene showed no exonic mutations. <h3>Conclusion</h3> Absence of<i>LEMD3</i>mutation in the exons and splice sites of a family with BOS suggests that there is genetic heterogeneity for this disorder." @default.
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- W2155432860 date "2010-01-01" @default.
- W2155432860 modified "2023-10-14" @default.
- W2155432860 title "Buschke-Ollendorff Syndrome" @default.
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- W2155432860 doi "https://doi.org/10.1001/archdermatol.2009.320" @default.
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