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.[1] It is named for Abraham Buschke and Helene Ollendorff Curth,[2] 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.[3]
Signs and symptoms[edit | edit source]
The signs and symptoms of this condition are consistent with the following (possible complications include aortic stenosis and hearing loss[4][3]):
- Osteopoikilosis
- Bone pain
- Connective tissue nevi
- Metaphysis abnormality
Pathogenesis[edit | edit source]
Buschke–Ollendorff syndrome is caused by one important factor: mutations in the LEMD3 gene (12q14), located on chromosome 12.[citation needed]
Among the important aspects of Buschke–Ollendorff syndrome condition, genetically speaking are:[5][6][7]
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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.
Diagnosis[edit | edit source]
The diagnosis of this condition can be ascertained via several techniques one such method is genetic testing, as well as:[4][9]
- X-ray
- Ultrasound
- Histological test
Differential diagnosis[edit | edit source]
The differential diagnosis for an individual believed to have Buschke–Ollendorff syndrome is the following:[9]
- Melorheostosis
- Sclerotic bone metastases.
Treatment[edit | edit source]
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.[3]
See also[edit | edit source]
References[edit | edit source]
- ↑ Online Mendelian Inheritance in Man (OMIM) 166700
- ↑ A. Buschke, H. Ollendorff-Curth. Ein Fall von Dermatofibrosis lenticularis disseminata und Osteopathia condensans disseminata. Dermatologische Wochenschrift, Hamburg, 1928, 86: 257–262.
- ↑ 3.0 3.1 3.2
- ↑ 4.0 4.1 "Buschke Ollendorff syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 29 December 2017.
- ↑ Reference, Genetics Home. "Buschke-Ollendorff syndrome". Genetics Home Reference. Retrieved 2018-05-13.
- ↑
- ↑ Reference, Genetics Home. "LEMD3 gene". Genetics Home Reference. Retrieved 2018-05-13.
- ↑
-Creative Commons Attribution 3.0 Unported license - ↑ 9.0 9.1 RESERVED, INSERM US14 -- ALL RIGHTS. "Orphanet: Buschke Ollendorff syndrome". www.orpha.net. Retrieved 29 December 2017.
{{cite web}}: CS1 maint: numeric names: authors list (link)
Further reading[edit | edit source]
External links[edit | edit source]
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