Buschke–Ollendorff syndrome
- Buschke–Ollendorff syndrome
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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][4] 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.[5]
Genetics
Buschke–Ollendorff syndrome has an autosomal dominant pattern of
inheritance.
Buschke–Ollendorff syndrome is inherited in an autosomal dominant manner.[2] This means that the defective gene responsible for the disorder is located on an autosome, and one copy of the defective gene is sufficient to cause the disorder when inherited from a parent who also has the disorder.
See also
References
- ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0.
- ^ a b Online 'Mendelian Inheritance in Man' (OMIM) 166700
- ^ synd/1803 at Who Named It?
- ^ A. Buschke, H. Ollendorff-Curth. Ein Fall von Dermatofibrosis lenticularis disseminata und Osteopathia condensans disseminata. Dermatologische Wochenschrift, Hamburg, 1928, 86: 257-262.
- ^ Lukasz Matusiak (2 July 2008), Dermatofibrosis Lenticularis (Buschke-Ollendorf Syndrome), eMedicine, http://emedicine.medscape.com/article/1117654-overview, retrieved 2009-09-05
External links
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see also cytoskeletal proteins
B structural (perx, skel, cili, mito, nucl, sclr) · DNA/RNA/protein synthesis (drep, trfc, tscr, tltn) · membrane (icha, slcr, atpa, abct, othr) · transduction (iter, csrc, itra), trfk
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Categories:
- Autosomal dominant disorders
- Syndromes
- Dermal and subcutaneous growths
- Cytoskeletal defects
- Genetic disorder stubs
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Buschke-Ollendorff syndrome — Infobox Disease Name = PAGENAME Caption = DiseasesDB = 30071 ICD10 = ICD9 = ICDO = OMIM = 166700 MedlinePlus = eMedicineSubj = eMedicineTopic = MeshID = Buschke Ollendorff syndrome is a laminopathy associated with LEMD3. It is believed to be… … Wikipedia
Buschke-Ollendorff syndrome — Busch·ke Ol·len·dorff syndrome (booshґkə oґlen dorf) [A. Buschke; Helene Ollendorff, German dermatologist, 20th century] dermatofibrosis lenticularis disseminata … Medical dictionary
Buschke-Ollendorff syndrome — an autosomal dominant syndrome, present at birth or appearing before puberty, characterized by often symmetric connective tissue nevi of the elastic type on the limbs and lower trunk (dermatofibrosis lenticularis disseminata) in association with… … Medical dictionary
Abraham Buschke — (September 27, 1868 1943) was a German dermatologist who was a native of Nakel in the Province of Posen. In 1891 he received his doctorate in Berlin, and afterwards was a surgical assistant in Greifswald. Later he worked at dermatological clinics … Wikipedia
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