Buschke–Ollendorff syndrome (BOS) is a rare genetic skin disorder associated with LEMD3 that typically presents with widespread painless papules. It is inherited in an autosomal dominant manner. Conditions that may appear similar include tuberous sclerosis, pseudoxanthoma elasticum, neurofibroma, and lipoma, among others. Its frequency is almost 1 case per every 20,000 people, and it is equally found in both males and females. It is named for Abraham Buschke and Helene Ollendorff Curth, who described the condition in one female in 1928.

Signs and symptoms

The signs and symptoms of this condition are consistent with the following (possible complications include aortic stenosis and hearing loss ):

Pathogenesis

Buschke–Ollendorff syndrome is caused by one important factor: mutations in the LEMD3 gene. 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:

Differential diagnosis

The differential diagnosis for an individual believed to have Buschke–Ollendorff syndrome is the following:

Treatment

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.