Buschke-Ollendorff syndrome of the scalp: Histologic and ultrastructural findings

Trattner, Akiva; David, Michael; Rothem, A.; E, Ben-David; Sandbank, Miriam

doi:10.1016/0190-9622(91)70123-j

Cited by 26 publications

(14 citation statements)

References 7 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…A unifying theory regarding connective tissue was proposed, 5,8 in which abnormalities of collagen, elastic fibres and mucopolysacharide synthesis were considered, but it could not explain all cases 1,5,9 . The present report further supports the view that zosteriform connective tissue nevus should be considered as a separate entity because of its unusual clinical presentation, the lack of a genetic pattern of inheritance and the absence of associated abnormalities in other organs.…”

Section: Discussionsupporting

confidence: 64%

Zosteriform connective tissue nevus: a case report

et al. 2003

View full text Add to dashboard Cite

show abstract

Section: Discussionsupporting

confidence: 64%

Zosteriform connective tissue nevus: a case report

et al. 2003

View full text Add to dashboard Cite

show abstract

“…Microscopically, the nodule was hypocellular and consisted of interlacing thick collagen fibres and rare elastic fibres. These findings are not typical for BOS, which normally shows higher elastin production in involved and uninvolved skin [6–8]. However, phenotypic expression of BOS is variable, and skeletal and cutaneous lesions may occur separately [3].…”

Section: Discussionmentioning

confidence: 99%

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

et al. 2016

View full text Add to dashboard Cite

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.

show abstract

“…Streaked and deep nodular forms have also been noted [7]. They are often symmetrically distributed on the buttocks and thighs but may occur on the extremities, back and abdomen in a non-symmetrical fashion [18] or may involve the scalp, as was recently described [19]. Histologically, these naevi may vary in appearance.…”

Section: Review and Discussionmentioning

confidence: 90%

“…Histologically, these naevi may vary in appearance. Many contain increased amounts of elastic fibres but these may be normal, decreased or fragmented; abnormalities of collagen and mixed types have also been observed [19,20]. Prominent elastic fibre fragmentation and calcification, however, are not seen and this distinguishes the findings from those of pseudoxanthoma elasticum.…”

Section: Review and Discussionmentioning

confidence: 99%

“…Recent work on the skin lesions of BOS has demonstrated increased production of tropoelastin and elevated elastin messenger RNA levels from both lesional and non-lesional skin fibroblasts [22]. Although the bone and skin lesions in BOS represent a hereditary localised malformation of mesenchymal tissue, and the pathogenesis of the elastic defect in skin lesions is starting to unravel [19,20,22], the correlation between this and the defects involved in osteopoikilosis is not as yet fully understood.…”

Section: Review and Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Buschke-ollendorff syndrome in a grande multipara: A case report and short review of the literature

Attia

Sherif

1998

Clin Rheumatol

View full text Add to dashboard Cite

A 36-year-old short-statured grande multipara (gravida 10, para 8) with diabetes mellitus and hyperlipidaemia was incidentally found to have Buschke-Ollendorff syndrome (osteopoikilosis and dermatofibrosis lenticularis disseminata). The pelvis and hips, followed by the knees, were the sites mainly affected by the osteopoikilosis. The lumbosacral spine was also affected. She had a single connective tissue naevus on the right thigh. Apart from two abortions, the repeated pregnancies were uneventful and all her deliveries were normal at full-term or nearly full-term. With regard to the relationship between Buschke-Ollendorff syndrome and multiparity, it was apparent that multiparity did not affect the involved weight bearing bony structures, nor did the disseminated osteopoikilosis interfere with the endurance of multiple pregnancies. Buschke-Ollendorff syndrome is known generally to have a benign course, a feature that is illustrated in this case, even when associated with the stresses of multiparity. The report also provides a short and updated review of various clinical aspects of the syndrome and its associations, some of which are of a serious nature.

show abstract

Buschke-Ollendorff syndrome of the scalp: Histologic and ultrastructural findings

Cited by 26 publications

References 7 publications

Zosteriform connective tissue nevus: a case report

Zosteriform connective tissue nevus: a case report

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

Buschke-ollendorff syndrome in a grande multipara: A case report and short review of the literature

Contact Info

Product

Resources

About