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Open Access Articles- Top Results for Buschke%E2%80%93Ollendorff syndrome

Buschke–Ollendorff syndrome

Buschke–Ollendorff syndrome
Classification and external resources
OMIM 166700
DiseasesDB 30071
NCI Buschke–Ollendorff syndrome
Patient UK Buschke–Ollendorff syndrome

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

File:Autosomal dominant - en.svg
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

  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, retrieved 2009-09-05 

External links


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