Buschke-Ollendorff Syndrome

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

doi:10.1001/archdermatol.2009.320

Cited by 29 publications

(6 citation statements)

References 23 publications

(37 reference statements)

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“…Another case describing the absence of LEMD3 mutation in an affected family may indicate the genetic heterogeneity of Buschke–Ollendorff syndrome [13]. Thus far, more than 22 mutations have been identified in the LEMD3 gene [14].…”

Section: Discussionmentioning

confidence: 99%

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

et al. 2016

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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.

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Section: Discussionmentioning

confidence: 99%

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

et al. 2016

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“…This gene is responsible for appropriate skeletal bone formation and downstream regulation of skin collagen and elastin production. 6 The mutation leads to a decrease in the inhibition of transforming growth factor β and bone morphogenetic protein via the LEMD inner nuclear membrane protein interactions. 6 This loss of function is phenotypically expressed with overproduction of collagen, elastin, and cancellous bone tissue, resulting in osteopoikilosis and elastomas.…”

Section: Discussionmentioning

confidence: 99%

“… 3 , 5 Debilitating symptoms are rare, but radiographic findings may be confused for primary osteoblastic or metastatic disease. 6 We present a case of BOS incidentally diagnosed in a 20-year-old white man, with both radiologic and cutaneous findings discovered after complaints of a painful enlarging nodule on the right lower extremity.…”

Section: Introductionmentioning

confidence: 99%

Buschke-Ollendorff syndrome presenting as a painful nodule

2015

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“…2). Histological analysis characteristically reveals an increased volume of large, interlacing elastin fibrils (Yadegari et al, 2010). Associated osseous findings vary and typically increase with age.…”

Section: Buschke-ollendorff Syndromementioning

confidence: 99%

“…BOS is an autosomal dominant disease, described in several series in the literature as recurring in families (Hellemans et al, 2004, Kawamura et al, 2005, Yadegari et al, 2010, Zhang et al, 2009). The causative mutation is believed to be in the gene encoding the LEM domain-containing protein 3 (LEMD3), an inner nuclear membrane protein, which, via interactions through Smad proteins, plays a key role in the regulation of transforming growth factor beta (TGF-β) and bone morphogenic protein (Hellemans et al, 2004, Zhang et al, 2009).…”

Section: Buschke-ollendorff Syndromementioning

confidence: 99%