Buschke–Ollendorff syndrome


Buschke–Ollendorff syndrome is a rare genetic disorder associated with LEMD3. It is believed to be inherited in an autosomal dominant manner. It is named for Abraham Buschke and Helene Ollendorff Curth, who described it in a 45-year-old woman. Its frequency is almost 1 case per every 20,000 people, and it is equally found in both males and females.

Signs and symptoms

The signs and symptoms of this condition are consistent with the following :

Pathogenesis

Buschke–Ollendorff syndrome is caused by one important factor: mutations in the LEMD3 gene, located on chromosome 12.
Among the important aspects of Buschke–Ollendorff syndrome condition, genetically speaking are:

Diagnosis

The diagnosis of this condition can be ascertained via several techniques one such method is genetic testing, as well as:
The differential diagnosis for an individual believed to have Buschke–Ollendorff syndrome is the following:
In 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.