Buschke-Ollendorff syndrome: Absence of LEMD3 mutation in an affected family

Michelle Yadegari, Michael P. Whyte, Steven Mumm, Robert G. Phelps, Alan Shanske, William G. Totty, Steven R. Cohen

Research output: Contribution to journalArticlepeer-review

30 Scopus citations


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.

Original languageEnglish
Pages (from-to)63-68
Number of pages6
JournalArchives of Dermatology
Issue number1
StatePublished - Jan 2010


Dive into the research topics of 'Buschke-Ollendorff syndrome: Absence of LEMD3 mutation in an affected family'. Together they form a unique fingerprint.

Cite this