keyword
MENU ▼
Read by QxMD icon Read
search

Buschke ollendorff syndrome

keyword
https://www.readbyqxmd.com/read/29023873/juvenile-elastoma-without-germline-mutations-in-lemd3-gene-a-case-of-buschke-ollendorff-syndrome
#1
Alessandra Condorelli, Nicolo Musso, Laura Scuderi, Daniele F Condorelli, Vincenza Barresi, Rocco De Pasquale
We report the case of a 6-year-old Caucasian girl with clinical and histopathologic features of Buschke-Ollendorff syndrome. Histologic examination of skin lesions showed thick, curly, elastic fibers in the derma. Bone lesions compatible with Buschke-Ollendorff syndrome were found in the girl's mother. Mutations in LEMD3 are pathogenic for Buschke-Ollendorff syndrome. Analysis of all exons and exon-intron junctions of LEMD3 did not reveal any germline mutations.
October 10, 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28676968/melorheostosis-a-rare-sclerosing-bone-dysplasia
#2
REVIEW
Anupam Kotwal, Bart L Clarke
PURPOSE OF REVIEW: Melorheostosis is a rare sclerosing bone dysplasia that affects both cortical bone and adjacent soft tissue structures in a sclerotomal distribution. In this review, we describe the natural history, radiological features, proposed pathogenesis, and management options for this debilitating condition. RECENT FINDINGS: Since its first description in 1922, about 400 cases of melorheostosis have been reported, either as single reports or in small case series...
August 2017: Current Osteoporosis Reports
https://www.readbyqxmd.com/read/28300889/elastoma-clinical-and-histopathological-aspects-of-a-rare-disease
#3
Marina Gagheggi Maciel, Milvia Maria Simões E Silva Enokihara, Maria Bandeira de Melo Paiva Seize, Aline Pantano Marcassi, Christiane Affonso De Donato Piazza, Silmara da Costa Pereira Cestari
Elastoma is a connective tissue nevus characterized by changes in elastic fibers. It can be congenital or acquired, and is usually diagnosed before puberty. Associated with osteopoikilosis, it is known as Buschke-Ollendorff syndrome. Histopathology with specific staining for elastic fibers is critical for a diagnostic conclusion. This report describes the case of a 7-year-old male patient with lesions diagnosed as elastoma, with absence of bone changes in the radiological imaging. This study aims to report the clinical presentation and histological examination of such unusual disease...
September 2016: Anais Brasileiros de Dermatologia
https://www.readbyqxmd.com/read/27267960/the-buschke-ollendorff-syndrome-a-case-report-of-simultaneous-osteo-cutaneous-malformations-in-the-hand
#4
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...
June 7, 2016: BMC Research Notes
https://www.readbyqxmd.com/read/27115577/buschke-ollendorff-syndrome
#5
COMMENT
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
keyword
keyword
27721
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"