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


METHODS
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.


CONCLUSIONS
Absence of LEMD3 mutation in the exons and splice sites of a family with BOS suggests that there is genetic heterogeneity for this disorder.
Yadegari
Michelle
M
Division of Dermatology, Department of Medicine, Children's Hospital at Montefiore Medical Center, Albert Einstein College of Medicine, 111 E 210th St, Bronx, NY 10467, USA.
Whyte
Michael P
MP
Mumm
Steven
S
Phelps
Robert G
RG
Shanske
Alan
A
Totty
William G
WG
Cohen
Steven R
SR
D001324:Autoantigens; D001706:Biopsy; D002648:Child; D004247:DNA / Q000235:genetics*; D004268:DNA-Binding Proteins; D005091:Exons; D005190:Family; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008557:Melorheostosis / Q000097:blood / Q000175:diagnosis / Q000235:genetics*; D008565:Membrane Proteins / Q000097:blood / Q000235:genetics*; D009154:Mutation; D009506:Nevus / Q000097:blood / Q000175:diagnosis / Q000235:genetics*; D009687:Nuclear Proteins / Q000097:blood / Q000235:genetics*; D010023:Osteopoikilosis / Q000097:blood / Q000175:diagnosis / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012867:Skin / Q000473:pathology*; D013577:Syndrome
D001324:Autoantigens; D004268:DNA-Binding Proteins; C405329:LEMD3 protein, human; D008565:Membrane Proteins; D009687:Nuclear Proteins; D004247:DNA