Buschke-Ollendorff syndrome: absence of LEMD3 mutation in an affected family. uri icon

Overview

abstract

  • 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.

publication date

  • January 1, 2010

Research

keywords

  • DNA
  • Melorheostosis
  • Membrane Proteins
  • Mutation
  • Nevus
  • Nuclear Proteins
  • Osteopoikilosis
  • Skin

Identity

Scopus Document Identifier

  • 74549211397

Digital Object Identifier (DOI)

  • 10.1001/archdermatol.2009.320

PubMed ID

  • 20083694

Additional Document Info

volume

  • 146

issue

  • 1