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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]
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The signs and symptoms of this condition are consistent with the following (possible complications include aortic stenosis and hearing loss[2][4]):
- Osteopoikilosis
- Bone pain
- Connective tissue nevi
- Metaphysis abnormality
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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- LEMD3 (protein) referred also as MAN1, is an important protein in inner nuclear membrane.
- LEMD3 gene gives instructions for producing protein that controls signaling for transforming growth factor-beta.
- LEMD3 gene helps in the bone morphogenic protein pathway
- Both of the above pathways help grow new bone cells
- BMP and TGF-β pathways controls SMADs proteins, which then bind to DNA
- LEMD3 once mutated, causes a reduction of the protein, which in turn causes excess of the above two pathways.
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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]
- X-ray
- Ultrasound
- Histological test
Differential diagnosis
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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