Buschke–Ollendorff syndrome

Buschke-Ollendorff syndrome
Classification and external resources
OMIM 166700
DiseasesDB 30071

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]

Contents

Genetics

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

  1. ^ Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). Dermatology: 2-Volume Set. St. Louis: Mosby. ISBN 1-4160-2999-0. 
  2. ^ a b Online 'Mendelian Inheritance in Man' (OMIM) 166700
  3. ^ synd/1803 at Who Named It?
  4. ^ A. Buschke, H. Ollendorff-Curth. Ein Fall von Dermatofibrosis lenticularis disseminata und Osteopathia condensans disseminata. Dermatologische Wochenschrift, Hamburg, 1928, 86: 257-262.
  5. ^ Lukasz Matusiak (2 July 2008), Dermatofibrosis Lenticularis (Buschke-Ollendorf Syndrome), eMedicine, http://emedicine.medscape.com/article/1117654-overview, retrieved 2009-09-05 

External links

Cytoskeletal defects
Microfilaments
Other
IF
1/2
3
4
5
Microtubules
Other
Membrane
Catenin
Other
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