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Buschke ollendorf

Benjamin Korman, Jun Wei, Anne Laumann, Polly Ferguson, John Varga
Introduction. Buschke-Ollendorf syndrome (BOS) is an uncommon syndrome characterized by osteopoikilosis and other bone abnormalities, accompanied by skin lesions, most frequently connective tissue nevi. BOS is caused by mutations in the LEMD3 gene, which encodes the inner nuclear membrane protein Man1. We describe a unique case of osteopoikilosis associated with late-onset localized scleroderma and familial LEMD3 mutations. Case Report. A 72-year-old woman presented with adult-onset diffuse morphea and bullous skin lesions...
2016: Case Reports in Dermatological Medicine
Mathieu Verdet, Odile Rivault, Ute Zimmerman, Vincent Goëb
No abstract text is available yet for this article.
July 2011: Joint, Bone, Spine: Revue du Rhumatisme
Michelle Yadegari, Michael P Whyte, Steven Mumm, Robert G Phelps, Alan Shanske, William G Totty, Steven R Cohen
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...
January 2010: Archives of Dermatology
Ai Kawamura, Toyoko Ochiai, Miyuki Tan-Kinoshita, Hiroyuki Suzuki
Buschke-Ollendorff syndrome is an autosomal dominant disease characterized by disseminated connective tissue nevi of elastic type and osteopoikilosis. We report a 6-year-old Japanese boy with connective tissue nevi that showed slightly grouped yellowish or skin-colored papules and nodules, distributed from birth over his right thigh, right buttock, and back. Radiologic skeletal survey revealed osteopoikilosis. A skin biopsy specimen obtained from a papule showed that collagen bundles in the dermis were thickened and homogenized...
March 2005: Pediatric Dermatology
No abstract text is available yet for this article.
May 1964: Der Hautarzt; Zeitschrift Für Dermatologie, Venerologie, und Verwandte Gebiete
No abstract text is available yet for this article.
September 1963: Bulletin de la Société Française de Dermatologie et de Syphiligraphie
Christian Allen Drouin, Hugues Grenon
Buschke-Ollendorf syndrome and nail-patella syndrome are both rare connective tissue disorders inherited in an autosomal dominant pattern and characterized by cutaneous and bone lesions. We describe a 3-year-old boy and his family who showed clinical features of both Buschke-Ollendorf syndrome and nail-patella syndrome. To our knowledge, this association has not been reported previously, suggesting that these two connective tissue disorders may share the same gene location with different mutations or involve different mutated genes that share downstream segments of their signaling pathways...
April 2002: Journal of the American Academy of Dermatology
A Adunsky, E Atar, H Trau
Buschke-Ollendorf syndrome is a rare condition characterized by uneven sclerotic, osseous formations seen on X-ray (osteopoikilosis) and fibrous skin papules (dermatofibrosis lenticularis disseminata). We report an 82-year-old man with this syndrome. Awareness of the condition is important to avoid misdiagnosis and hazardous management designed for other disorders, such as prostatic metastases.
August 1997: Harefuah
J Uitto, D J Santa Cruz, B C Starcher, M P Whyte, W A Murphy
The Buschke-Ollendorff syndrome is an association of cutaneous lesions, dermatofibrosis lenticularis disseminata, with osteopoikilosis. This condition is inherited in an autosomal dominant pattern. In order to clarify the biochemical nature of the skin lesions, we have examined 12 patients with the Buschke-Ollendorf syndrome, representing 2 unrelated kindreds. Histologically, the lesions were characterized by excessive amounts of unusually broad, interlacing elastic fibers in the dermis. Digestion of skin secretions with pancreatic elastase completely removed these fibers...
April 1981: Journal of Investigative Dermatology
D J Atherton, R S Wells
No abstract text is available yet for this article.
January 1982: Clinical and Experimental Dermatology
J L Reymond, P Stoebner, J C Beani, P Amblard
Two identical twins with the Buschke-Ollendorf syndrome (dermatofibrosis lenticularis disseminata with osteopoikilosis) are described. Ultrastructurally elastic fibers show clumps of electron-lucent elastin material coated with fine fibrils. The fibroblasts show enlarged endoplasmic reticulum containing abnormal fibrillar material. Juvenile elastoma seems to be a better term than dermatofibrosis. The pathogenesis of the elastic defect is discussed.
1983: Dermatologica
A Schimpf, W Roth, J Kopper
No abstract text is available yet for this article.
1970: Dermatologica
N Macedo, R Vignale, V González, D Bravo, G de Anda
Four cases of "connective naevus" have been revised in a family, mother and her two daughters and son. The histology shows as principal characteristic hyperplasia, thickness and crossing disposition of elastic fibers, forming an image similar to the one of an "elastic naevus". Because of its familiar features and the absence of osteopoikilosis, we postulate a frustrate form of the Buschke-Ollendorf syndrome.
1989: Medicina Cutánea Ibero-latino-americana
A Llado Blanch, I Covas Planells, T Estrach Planella
Osteopoikilosis has always been described as a radiological finding of no clinico-biological significance with no deforming consequences for the skeleton. The authors present three cases with a past family history (mother suffered from osteopoikilosis and two sons with Buschke-Ollendorf syndrome) in whom we found alterations of phosphorus and calcium metabolism, this not having been previously reported in the literature.
August 1989: Anales Españoles de Pediatría
H Schönenberg
In a family, we have observed through 3 generations a Buschke-Ollendorf syndrome. All 12 children and grandchildren, descendants from actually 59 year old grandmother were examined. 8 probands had a osteopoikilia, 5 of them as the grandmother had a dermatofibrosis lentcularis disseminata. The Buschke-Ollendorf syndrome is not really a syndrome in his strong sense, rather a variant of osteopoikilia with participation of skin.
March 1975: Klinische Pädiatrie
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