| 词条 | Buschke–Ollendorff syndrome |
| 释义 |
| name = Buschke–Ollendorff sign | synonyms = | image = Autosomal dominant - en.svg | caption = Buschke–Ollendorff syndrome has an autosomal dominant pattern of inheritance. | pronounce = | field = | symptoms = Osteopoikilosis, bone pain[1] | complications = | onset = | duration = | types = | causes = Mutations in the LEMD3 gene.[1] | risks = | diagnosis = X-ray, ultrasound[3] | differential = | prevention = | treatment = Surgery for hearing loss(or complications)[4] | medication = | prognosis = | frequency = | deaths = }}Buschke–Ollendorff syndrome, also known as dermatofibrosis lenticularis disseminata,[1] is a rare genetic disorder associated with LEMD3. It is believed to be inherited in an autosomal dominant manner.[2] It is named for Abraham Buschke and Helene Ollendorff Curth[3] who described it in a 45-year-old woman. Its frequency is almost 1 case per every 20,000 people and is equally found in both males and females.[4] Signs and symptomsThe signs and symptoms of this condition are consistent with the following (possible complications include aortic stenosis and hearing loss[5][4]): *Osteopoikilosis *Bone pain *Connective tissue nevi *Metaphysis abnormality PathogenesisBuschke–Ollendorff syndrome is caused by one important factor: mutations in the LEMD3 gene (12q14), located on chromosome 12.{{citation needed|date=May 2018}} Among the important aspects of Buschke–Ollendorff syndrome condition, genetically speaking are:[6][7][8] * LEMD3 (protein) referred also as MAN1, is an important protein in inner nuclear membrane. * LEMD3 gene gives instructions for producing protein that controls signaling for transforming growth factor-beta. * LEMD3 gene helps in the bone morphogenic protein pathway * Both of the above pathways help grow new bone cells * BMP and TGF-β pathways controls SMADs proteins, which then bind to DNA {{clear}}* LEMD3 once mutated, causes a reduction of the protein, which in turn causes excess of the above two pathways. DiagnosisThe diagnosis of this condition can be ascertained via several techniques one such method is genetic testing, as well as:[5][3]
Differential diagnosisThe differential diagnosis for an individual believed to have Buschke–Ollendorff syndrome is the following:[9]
TreatmentIn terms of the treatment of Buschke–Ollendorff syndrome, should the complication of aortic stenosis occur then surgery may be required. Treatment for hearing loss may also require surgical intervention.[4] See also
References1. ^{{cite book |author=Rapini, Ronald P. |author2=Bolognia, Jean L. |author3=Jorizzo, Joseph L. |title=Dermatology: 2-Volume Set |publisher=Mosby |location=St. Louis |year=2007 |pages= |isbn=978-1-4160-2999-1 |oclc= |doi= }} 2. ^{{OMIM|166700}} 3. ^A. Buschke, H. Ollendorff-Curth. Ein Fall von Dermatofibrosis lenticularis disseminata und Osteopathia condensans disseminata. Dermatologische Wochenschrift, Hamburg, 1928, 86: 257–262. 4. ^1 2 3 {{citation|url=http://emedicine.medscape.com/article/1117654-overview|title=Dermatofibrosis Lenticularis (Buschke–Ollendorf Syndrome)|publisher=eMedicine|author=Lukasz Matusiak|date=2 July 2008|accessdate=2009-09-05}} 5. ^1 2 3 {{cite web|title=Buschke Ollendorff syndrome {{!}} Genetic and Rare Diseases Information Center (GARD) – an NCATS Program|url=https://rarediseases.info.nih.gov/diseases/1044/index|website=rarediseases.info.nih.gov|accessdate=29 December 2017|language=en}} 6. ^{{Cite web|url=https://ghr.nlm.nih.gov/condition/buschke-ollendorff-syndrome#genes|title=Buschke-Ollendorff syndrome|last=Reference|first=Genetics Home|website=Genetics Home Reference|language=en|access-date=2018-05-13}} 7. ^{{cite journal|last1=Worman|first1=Howard J.|last2=Fong|first2=Loren G.|last3=Muchir|first3=Antoine|last4=Young|first4=Stephen G.|title=Laminopathies and the long strange trip from basic cell biology to therapy|journal=The Journal of Clinical Investigation|date=July 2009|volume=119|issue=7|pages=1825–1836|doi=10.1172/JCI37679|pmid=19587457|url=https://www.ncbi.nlm.nih.gov/pubmed/?term=Laminopathies+and+the+long+strange+trip+from+basic+cell+biology+to+therapy|accessdate=13 May 2018|issn=1558-8238|pmc=2701866}} 8. ^{{Cite web|url=https://ghr.nlm.nih.gov/gene/LEMD3|title=LEMD3 gene|last=Reference|first=Genetics Home|website=Genetics Home Reference|language=en|access-date=2018-05-13}} 9. ^1 2 {{cite web|last1=RESERVED|first1=INSERM US14 -- ALL RIGHTS|title=Orphanet: Buschke Ollendorff syndrome|url=http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1306|website=www.orpha.net|accessdate=29 December 2017|language=en}} Further reading
External links
| DiseasesDB = 30071 | ICD10 = Q78.8 | ICD9 = | ICDO = | OMIM = 166700 | MedlinePlus = | eMedicineSubj = | eMedicineTopic = | MeshID = C537415 | Orphanet = 1306 }}{{Cytoskeletal defects}}{{Medicine}}{{DEFAULTSORT:Buschke-Ollendorff syndrome}} 4 : Autosomal dominant disorders|Syndromes|Dermal and subcutaneous growths|Cytoskeletal defects |
| 随便看 |
|
开放百科全书收录14589846条英语、德语、日语等多语种百科知识，基本涵盖了大多数领域的百科知识，是一部内容自由、开放的电子版国际百科全书。