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 journalArticle

25 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)63-68
Number of pages6
JournalArchives of Dermatology
Volume146
Issue number1
DOIs
StatePublished - Jan 2010

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Osteopoikilosis
Fathers
Mutation
Osteosclerosis
Bone and Bones
Inborn Genetic Diseases
Fibula
Genetic Heterogeneity
Germ-Line Mutation
Nevus
Nuclear Envelope
Nuclear Proteins
Wrist
Tibia
Nuclear Family
Femur
Genes
Exons
Membrane Proteins
Hand

ASJC Scopus subject areas

  • Dermatology

Cite this

Buschke-Ollendorff syndrome : Absence of LEMD3 mutation in an affected family. / Yadegari, Michelle; Whyte, Michael P.; Mumm, Steven; Phelps, Robert G.; Shanske, Alan; Totty, William G.; Cohen, Steven R.

In: Archives of Dermatology, Vol. 146, No. 1, 01.2010, p. 63-68.

Research output: Contribution to journalArticle

Yadegari, M, Whyte, MP, Mumm, S, Phelps, RG, Shanske, A, Totty, WG & Cohen, SR 2010, 'Buschke-Ollendorff syndrome: Absence of LEMD3 mutation in an affected family', Archives of Dermatology, vol. 146, no. 1, pp. 63-68. https://doi.org/10.1001/archdermatol.2009.320
Yadegari, Michelle ; Whyte, Michael P. ; Mumm, Steven ; Phelps, Robert G. ; Shanske, Alan ; Totty, William G. ; Cohen, Steven R. / Buschke-Ollendorff syndrome : Absence of LEMD3 mutation in an affected family. In: Archives of Dermatology. 2010 ; Vol. 146, No. 1. pp. 63-68.
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