Buschke–Ollendorff syndrome
Genetic disorder involving small, painless lumps on the skin From Wikipedia, the free encyclopedia
Genetic disorder involving small, painless lumps on the skin From Wikipedia, the free encyclopedia
Buschke–Ollendorff syndrome (BOS) is a rare genetic skin disorder associated with LEMD3 that typically presents with widespread painless papules.[1][5]
| Buschke–Ollendorff sign | |
|---|---|
| Other names | Dermatofibrosis lenticularis disseminata[1] |
| |
| Buschke–Ollendorff syndrome has an autosomal dominant pattern of inheritance. | |
| Symptoms | Papules in skin[1] |
| Causes | Mutations in the LEMD3 gene.[2] |
| Diagnostic method | X-ray, ultrasound[3] |
| Treatment | Surgery for hearing loss(or complications)[4] |
It is inherited in an autosomal dominant manner.[6][7] Conditions that may appear similar include tuberous sclerosis, pseudoxanthoma elasticum, neurofibroma, and lipoma, among others.[1]
Its frequency is almost 1 case per every 20,000 people, and it is equally found in both males and females.[4] It is named for Abraham Buschke and Helene Ollendorff Curth, who described the condition in one female in 1928.[1][8]
The signs and symptoms of this condition are consistent with the following (possible complications include aortic stenosis and hearing loss[2][4]):
Buschke–Ollendorff syndrome is caused by one important factor: mutations in the LEMD3 gene.[9]
Among the important aspects of Buschke–Ollendorff syndrome condition, genetically speaking are:[9][10][11]
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The diagnosis of this condition can be ascertained via several techniques one such method is genetic testing, as well as:[2][3]
The differential diagnosis for an individual believed to have Buschke–Ollendorff syndrome is the following:[3]
In terms of the treatment of Buschke–Ollendorff syndrome, should the complication of aortic stenosis occur then surgery may be required.[4]
Treatment for hearing loss may also require surgical intervention.[4]
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