The Buschke–Ollendorff syndrome: a case report of simultaneous osteo-cutaneous malformations in the handReport as inadecuate

The Buschke–Ollendorff syndrome: a case report of simultaneous osteo-cutaneous malformations in the hand - Download this document for free, or read online. Document in PDF available to download.

BMC Research Notes

, 9:294

Musculoskeletal Disorders


BackgroundWe describe a male with functionally impairing radial deviation of the thumb who presented to us at 24 years of age. Two sclerotic skin lesions had been excised 7 years before because of consecutive skin contracture. Latest radiological examination showed a spotted pattern consistent with osteopoikilosis.

Case presentationA corrective osteotomy of the thumb was carried out due to the patients discomfort. Facing the simultaneous osteo-cutaneous malformation we postulated a Buschke–Ollendorff syndrome. Buschke–Ollendorff syndrome is a rare autosomal-dominant hereditary disorder of connective tissue with typical osteo-cutaneous manifestations. To explore our hypothesis, biopsies were taken from the affected bone lesions and surrounding skin and soft tissue for histological investigation and genetic testing of the LEMD3 gene was performed on blood of the patient. The histology showed typical changes of the bone architecture and a fibrotic collagenous nodule of the skin. The genetic testing on DNA extracted from peripheral blood leucocytes confirmed a heterozygous loss of function mutation in the LEM domain-containing protein 3 LEMD3 gene coding for the inner nuclear membrane protein MAN1, which causes osteopoikilosis by antagonizing transforming growth factor β TGF-β and bone morphogenetic protein BMP signalling.

ConclusionsIn atypical cases of simultaneous occurrence of fibrotic skin lesions and a spotted pattern in the X-ray we recommend the genetic screening of the LEMD3 gene. A correct diagnosis of Buschke–Ollendorff syndrome is necessary to spare patients from expensive investigations and to provide reassurance about the benign nature of the disease.

KeywordsOsteopoikilosis Dermatofibrosis lenticularis disseminata Buschke–Ollendorff syndrome LEMD3 AbbreviationsBMPbone morphogenetic protein

BOSBuschke–Ollendorff syndrome

DNAdeoxyribonucleic acid


HGMDhuman gene mutation database

LEMD3LEM domain-containing protein 3

MAN1inner nuclear membrane protein


TGF-βtransforming growth factor β

Download fulltext PDF

Author: Michael Brodbeck - Q. Yousif - P. A. Diener - M. Zweier - J. Gruenert


Related documents