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Buschke ollendorff syndrome

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https://www.readbyqxmd.com/read/27267960/the-buschke-ollendorff-syndrome-a-case-report-of-simultaneous-osteo-cutaneous-malformations-in-the-hand
#1
Michael Brodbeck, Q Yousif, P A Diener, M Zweier, J Gruenert
BACKGROUND: We 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 PRESENTATION: A 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...
2016: BMC Research Notes
https://www.readbyqxmd.com/read/27115577/buschke-ollendorff-syndrome
#2
A Diociaiuti
No abstract text is available yet for this article.
April 2016: British Journal of Dermatology
https://www.readbyqxmd.com/read/27007781/identification-of-a-novel-point-mutation-in-the-lemd3-gene-in-an-infant-with-buschke-ollendorff-syndrome
#3
Johanna Kratzsch, Diana Mitter, Mirjana Ziemer, Jürgen Kohlhase, Harald Voth
No abstract text is available yet for this article.
July 1, 2016: JAMA Dermatology
https://www.readbyqxmd.com/read/26708699/buschke-ollendorff-syndrome-a-novel-case-series-and-systematic-review
#4
REVIEW
V Pope, L Dupuis, P Kannu, R Mendoza-Londono, D Sajic, J So, G Yoon, I Lara-Corrales
Buschke-Ollendorff syndrome (BOS) is a rare, often benign, autosomal skin disorder. BOS commonly presents with nontender connective tissue naevi and sclerotic bony lesions (osteopoikilosis [OPK]). Herein, we summarize the presenting features of BOS and potential associations by conducting a systematic review of the literature and summarizing a cohort seen at the Hospital for Sick Children (HSC), Toronto, Canada. PubMed was searched using the following terms: 'BOS'; 'dermatofibrosis lenticularis'; 'OPK'; 'LEMD3'; 'elastoma'; 'collagenoma'...
April 2016: British Journal of Dermatology
https://www.readbyqxmd.com/read/26135202/novel-somatic-mutation-in-lemd3-splice-site-results-in-buschke-ollendorff-syndrome-with-polyostotic-melorheostosis-and-osteopoikilosis
#5
Daniel Gutierrez, Kevin D Cooper, Anna L Mitchell, Heather I Cohn
Buschke-Ollendorff syndrome is a rare autosomal dominant disorder caused by loss of function in LEMD3, resulting in connective tissue nevi and varying bone dysplasia. Although typically benign, we describe a novel LEMD3 splice site mutation (IVS12 + 1delG) in a 13-year-old boy with Buschke-Ollendorff syndrome presenting with severe skeletal deformities, polyostotic melorheostosis, and osteopoikilosis.
September 2015: Pediatric Dermatology
https://www.readbyqxmd.com/read/25612973/-buschke-ollendorff-syndrome-in-two-generations-imitated-calv%C3%A3-legg-perthes-disease
#6
Nebras Ali, Sanne Fast, Mette Ramsdal Poulsen, Anette Bygum
Buschke-Ollendorff syndrome is a rare condition characterized by skin manifestations and osteopoikilosis. We describe a mother and her son who presented with indurated skin lesions suggestive of connective tissue naevi. X-rays showed multiple symmetrical foci of osteosclerosis. They had both been diagnosed earlier with Calvé-Legg-Perthes disease, which on revision most likely represented Buschke-Ollendorff syndrome. Buschke-Ollendorff syndrome may imitate Calvé-Legg-Perthes disease. Skin signs may be the clue to diagnosis...
January 26, 2015: Ugeskrift for Laeger
https://www.readbyqxmd.com/read/25184645/buschke-ollendorff-syndrome-sparing-unnecessary-investigations
#7
Tiziana Surrenti, Francesco Callea, Laura Tanturri De Horatio, Andrea Diociaiuti, Maya El Hachem
Buschke-Ollendorff syndrome (BOS) is an autosomal-dominant disease characterized by the association of connective tissue nevi and osteopoikilosis. It is diagnosed by mutations of proteins involved in bone and connective tissue morphogenesis. We report 2 cases of BOS with different cutaneous clinical patterns. These cases emphasize the importance of heightened suspicion of BOS in selected cases. Identifying BOS can be reassuring for the patient, sparing futile and expensive investigations.
August 2014: Cutis; Cutaneous Medicine for the Practitioner
https://www.readbyqxmd.com/read/24917176/ossifying-fibroma-in-buschke-ollendorff-syndrome
#8
Annelise L Dawson, Joshua M Schulman, Richard C Jordan, Jeffrey P North
Buschke-Ollendorff syndrome represents an autosomal dominant disorder characterized by connective tissue nevi and osteopoikilosis. Cutaneous lesions may contain either predominantly elastic fibers or predominantly collagen fibers or may show both connective tissue components. The disease results from mutations in LEMD3 (MAN1), which lead to enhanced transforming growth factor-β (TGF-β) signaling and resultant changes in fibroblast function. TGF-β alterations have been implicated in a number of fibrotic disorders, and it is therefore not surprising that a range of cutaneous and skeletal abnormalities have been associated with Buschke-Ollendorff syndrome...
September 2014: Journal of Cutaneous Pathology
https://www.readbyqxmd.com/read/24726545/a-5-year-old-with-connective-tissue-nevi-buschke-ollendorff-syndrome
#9
Puja J Umaretiya, Rachel Y Miest, Megha M Tollefson
No abstract text is available yet for this article.
July 2014: Journal of Pediatrics
https://www.readbyqxmd.com/read/24583550/buschke-ollendorff-syndrome-accidentally-diagnosed-after-a-left-ankle-sprain
#10
P Lygdas, E G Ballas, I P Stathopoulos, T Theologis, K Pistevos, D Pasparakis
No abstract text is available yet for this article.
March 2014: Journal of Musculoskeletal & Neuronal Interactions
https://www.readbyqxmd.com/read/24507217/-buschke-ollendorff-syndrome
#11
Y Socrier, A-R Wann, M-L Sigal, M Grossin, E Mahé
No abstract text is available yet for this article.
February 2014: Annales de Dermatologie et de Vénéréologie
https://www.readbyqxmd.com/read/24378571/-buschke-ollendorff-syndrome
#12
M Lorente-Luna, A Ballano-Ruiz, A Vergara-Sánchez, J Cuevas Santos
No abstract text is available yet for this article.
October 2014: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría (A.E.P.)
https://www.readbyqxmd.com/read/23803565/a-rare-case-of-secondary-syphilis-manifesting-as-immune-reconstitution-syndrome-in-an-hiv-positive-patient
#13
Biju Vasudevan, Rajesh Verma, Vijendran Pragasam, Ambresh Badad, Debdeep Mitra, Vikram Singh
A 44-year-old HIV-infected male, having a low CD4 count, was on antiretroviral therapy for the last 2 months, when he developed a skin rash. He gave a history of solitary unprotected extramarital sexual contact 6 months before onset of the rash. Dermatological examination revealed a bilaterally symmetrical, maculopapular erythematous rash involving the palms, forearms, and neck. He showed a positive sign of Buschke-Ollendorff. In the meanwhile, the CD4 count had improved to 196 cells/mm(3) from the previous count of 92 cells/mm(3) and the viral load had decreased...
November 2013: Journal of the International Association of Providers of AIDS Care
https://www.readbyqxmd.com/read/23461687/an-8-year-old-boy-with-multiple-yellow-papules-and-bony-lesions-buschke-ollendorff-syndrome
#14
Brittany Waller, Mohammed Al-Jasser, Joseph M Lam, F R C P C
No abstract text is available yet for this article.
March 2013: Pediatric Dermatology
https://www.readbyqxmd.com/read/22739355/connective-tissue-nevi-in-children-institutional-experience-and-review
#15
Catherine C McCuaig, Caridad Vera, Victor Kokta, Danielle Marcoux, Afshin Hatami, Thusanth Thuraisingam, Dominique Marton, Geneviève Fortier-Riberdy, Julie Powell
BACKGROUND: Connective tissue nevi (CTN) are circumscribed hamartomas of the skin in which there is an abnormal mixture of normal components of the dermis that may be sporadic or associated with syndromes such as Buschke-Ollendorff, tuberous sclerosis, and Proteus. OBJECTIVE: We sought to specify the clinical and histologic features of CTN in childhood and to propose a diagnostic approach and updated classification. METHODS: This was a retrospective study in a tertiary pediatric outpatient population, accessing clinical and histopathological records...
November 2012: Journal of the American Academy of Dermatology
https://www.readbyqxmd.com/read/22150319/buschke-ollendorff-syndrome-and-bilateral-cutaneous-syndactyly
#16
Esteban Fernández-Faith, Douglas Kress, Melissa Piliang, Mandi Sachdeva, Allison Vidimos
A 3-year-old boy presented with asymptomatic elastomas on the posterior trunk. Radiographic studies revealed osteopoikilosis, confirming the diagnosis of Buschke-Ollendorff syndrome. The patient had a history of bilateral simple cutaneous syndactyly, which has not been previously reported with this condition. Buschke-Ollendorff syndrome is a rare autosomal-dominant disorder characterized by connective tissue nevi and osteopoikilosis. Several associated systemic abnormalities have been reported, but morbidity and mortality are generally not affected...
September 2012: Pediatric Dermatology
https://www.readbyqxmd.com/read/22014540/connective-tissue-nevi-an-entity-revisited
#17
Anne Saussine, Karine Marrou, Phillippe Delanoé, Nathalie Bodak, Dominique Hamel, Arnaud Picard, Bruno Sassolas, Yves de Prost, Martine Lemerrer, Sylvie Fraitag, Christine Bodemer
BACKGROUND: Connective tissue nevi (CTN) may be isolated, either sporadic or hereditary, or syndromic as in the Buschke-Ollendorff syndrome. Few publications have addressed the variable clinical and histopathologic expression of these benign hamartomas. OBJECTIVE: We sought to characterize the clinical and histopathologic features of CTN and to highlight a spectrum of clinical disease. METHODS: We carried out a retrospective study of cases selected after strict clinical and histopathologic confirmation of the diagnosis...
August 2012: Journal of the American Academy of Dermatology
https://www.readbyqxmd.com/read/20732851/buschke-ollendorff-syndrome-in-a-three-generation-family-influence-of-a-novel-lemd3-mutation-to-tropoelastin-expression
#18
Bettina Burger, Dov Hershkovitz, Margarita Indelman, Michal Kovac, Jörg Galambos, Peter Haeusermann, Eli Sprecher, Peter H Itin
Buschke-Ollendorff syndrome refers to the concomitant occurrence of connective tissue nevi, composed of elastic fibers in most cases, with osteopoikilosis. This autosomal dominant inherited disorder is caused by mutations in the gene LEMD3 on chromosome 12q14, which induces a rather heterogeneous clinical phenotype. Here, we report on the most proximal germline mutation found to date in the LEMD3 gene, p.Val94fs, in a three-generation Swiss family. Quantitative RNA analyses in affected and non-affected skin tissue from the proband demonstrate a comparable nonsense-mediated decay of mutant LEMD3 mRNA in both tissues; however, different levels of tropoelastin expression suggest that additional factors are involved in the development of the cutaneous lesions...
November 2010: European Journal of Dermatology: EJD
https://www.readbyqxmd.com/read/20678097/buschke-ollendorff-syndrome-with-striking-phenotypic-variation-resulting-from-a-novel-c-2203c-t-nonsense-mutation-in-lemd3
#19
Manuela Yuste-Chaves, Javier Cañueto, Ángel Santos-Briz, Sara Ciria, Rogelio González-Sarmiento, Pablo Unamuno
The Buschke-Ollendorff syndrome (BOS) (MIM 166700) is a rare autosomal dominant disorder with highly variable expression that consists of multiple cutaneous elastic nevi and osteopoikilosis. It may exhibit clinical variations, and in some patients either skin or bone lesions may be absent. Recently it has been demonstrated that the heterozygous loss of function in LEMD3 can result in osteopoikilosis, BOS, and melorheostosis. We have studied three generations in a family with BOS with a variable phenotype. The genetic analyses revealed a heterozygous c...
July 2011: Pediatric Dermatology
https://www.readbyqxmd.com/read/20618940/osteopoikilosis-and-multiple-exostoses-caused-by-novel-mutations-in-lemd3-and-ext1-genes-respectively-coincidence-within-one-family
#20
Sevjidmaa Baasanjav, Aleksander Jamsheer, Mateusz Kolanczyk, Denise Horn, Tomasz Latos, Katrin Hoffmann, Anna Latos-Bielenska, Stefan Mundlos
BACKGROUND: Osteopoikilosis is a rare autosomal dominant genetic disorder, characterised by the occurrence of the hyperostotic spots preferentially localized in the epiphyses and metaphyses of the long bones, and in the carpal and tarsal bones 1. Heterozygous LEMD3 gene mutations were shown to be the primary cause of the disease 2. Association of the primarily asymptomatic osteopokilosis with connective tissue nevi of the skin is categorized as Buschke-Ollendorff syndrome (BOS) 3. Additionally, osteopoikilosis can coincide with melorheostosis (MRO), a more severe bone disease characterised by the ectopic bone formation on the periosteal and endosteal surface of the long bones 456...
2010: BMC Medical Genetics
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