Buschke–Ollendorff syndrome
| Buschke–Ollendorff sign | |
|---|---|
| |
| Synonyms | Dermatofibrosis lenticularis disseminata[1] |
| Pronounce | |
| Field | |
| Symptoms | Osteopoikilosis, bone pain[2] |
| Complications | |
| Onset | |
| Duration | |
| Types | |
| Causes | Mutations in the LEMD3 gene.[2] |
| Risks | |
| Diagnosis | X-ray, ultrasound[3] |
| Differential diagnosis | |
| Prevention | |
| Treatment | Surgery for hearing loss(or complications)[4] |
| Medication | |
| Prognosis | |
| Frequency | |
| Deaths | |
Buschke–Ollendorff syndrome is a rare genetic disorder associated with LEMD3. It is believed to be inherited in an autosomal dominant manner.[5] It is named for Abraham Buschke and Helene Ollendorff Curth,[6] 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.[4]
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[2][4]):
- 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:[7][8][9]
.jpg)
- 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:[2][3]
- 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:[3]
- 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.[4]
See also[edit | edit source]
References[edit | edit source]
- ↑
- ↑ 2.0 2.1 2.2 2.3 "Buschke Ollendorff syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 29 December 2017.
- ↑ 3.0 3.1 3.2 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) - ↑ 4.0 4.1 4.2 4.3
- ↑ 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.
- ↑ 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
Further reading[edit | edit source]
External links[edit | edit source]
| Classification | |
|---|---|
| External resources |
|
Search WikiMD
Ad.Tired of being Overweight? Try W8MD's physician weight loss program.
Semaglutide (Ozempic / Wegovy and Tirzepatide (Mounjaro / Zepbound) available.
Advertise on WikiMD
|
WikiMD's Wellness Encyclopedia |
| Let Food Be Thy Medicine Medicine Thy Food - Hippocrates |
Translate this page: - East Asian
中文,
日本,
한국어,
South Asian
हिन्दी,
தமிழ்,
తెలుగు,
Urdu,
ಕನ್ನಡ,
Southeast Asian
Indonesian,
Vietnamese,
Thai,
မြန်မာဘာသာ,
বাংলা
European
español,
Deutsch,
français,
Greek,
português do Brasil,
polski,
română,
русский,
Nederlands,
norsk,
svenska,
suomi,
Italian
Middle Eastern & African
عربى,
Turkish,
Persian,
Hebrew,
Afrikaans,
isiZulu,
Kiswahili,
Other
Bulgarian,
Hungarian,
Czech,
Swedish,
മലയാളം,
मराठी,
ਪੰਜਾਬੀ,
ગુજરાતી,
Portuguese,
Ukrainian
Medical Disclaimer: WikiMD is not a substitute for professional medical advice. The information on WikiMD is provided as an information resource only, may be incorrect, outdated or misleading, and is not to be used or relied on for any diagnostic or treatment purposes. Please consult your health care provider before making any healthcare decisions or for guidance about a specific medical condition. WikiMD expressly disclaims responsibility, and shall have no liability, for any damages, loss, injury, or liability whatsoever suffered as a result of your reliance on the information contained in this site. By visiting this site you agree to the foregoing terms and conditions, which may from time to time be changed or supplemented by WikiMD. If you do not agree to the foregoing terms and conditions, you should not enter or use this site. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates Wikipedia, licensed under CC BY SA or similar.
Contributors: Prab R. Tumpati, MD
