Buschke–Ollendorff syndrome

Buschke–Ollendorff sign
Synonyms	Dermatofibrosis lenticularis disseminata<ref name="Bolognia">{{{last}}}, Rapini, Ronald P., Dermatology: 2-Volume Set, St. Louis:Mosby, 2007, ISBN 978-1-4160-2999-1,</ref>
Pronounce
Field
Symptoms	Osteopoikilosis, bone pain<ref name=gar/>
Complications
Onset
Duration
Types
Causes	Mutations in the LEMD3 gene.<ref name=gar/>
Risks
Diagnosis	X-ray, ultrasound<ref name=orph/>
Differential diagnosis
Prevention
Treatment	Surgery for hearing loss(or complications)<ref name=emed/>
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.<ref name=omim>Online Mendelian Inheritance in Man (OMIM) 166700 </ref> It is named for Abraham Buschke and Helene Ollendorff Curth,<ref>A. Buschke, H. Ollendorff-Curth. Ein Fall von Dermatofibrosis lenticularis disseminata und Osteopathia condensans disseminata. Dermatologische Wochenschrift, Hamburg, 1928, 86: 257–262.</ref> 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.<ref name="emed"> </ref>

Signs and symptoms

Osteopoikilosis

The signs and symptoms of this condition are consistent with the following (possible complications include aortic stenosis and hearing loss<ref name="gar">

Buschke Ollendorff syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program(link). rarediseases.info.nih.gov.

</ref><ref name=emed/>):

• Osteopoikilosis
• Bone pain
• Connective tissue nevi
• Metaphysis abnormality

Pathogenesis

Buschke–Ollendorff syndrome is caused by one important factor: mutations in the LEMD3 gene (12q14), located on chromosome 12. ^{(May 2018)}

Among the important aspects of Buschke–Ollendorff syndrome condition, genetically speaking are:<ref> Reference, Genetics Home. Buschke-Ollendorff syndrome(link). Genetics Home Reference.

Accessed 2018-05-13.

</ref><ref>,

 Laminopathies and the long strange trip from basic cell biology to therapy, 
 The Journal of Clinical Investigation, 
 
 Vol. 119(Issue: 7),
 pp. 1825–1836,
 DOI: 10.1172/JCI37679,
 PMID: 19587457,
 PMC: 2701866,
 
 Full text,</ref><ref>

Reference, Genetics Home. LEMD3 gene(link). Genetics Home Reference.

Accessed 2018-05-13.

</ref>

Bone Cells

• 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

Microscope with stained slide (histological specimen)

Histopathology of dermatofibrosis lenticularis disseminata.<ref name="HosenLamoen2012">, Histopathology of Pseudoxanthoma Elasticum and Related Disorders: Histological Hallmarks and Diagnostic Clues, Scientifica, 2012, Vol. 2012, pp. 1–15, DOI: 10.6064/2012/598262, PMID: 24278718, PMC: 3820553,
-Creative Commons Attribution 3.0 Unported license</ref>

The diagnosis of this condition can be ascertained via several techniques one such method is genetic testing, as well as:<ref name=gar/><ref name=orph/>

• X-ray
• Ultrasound
• Histological test

Differential diagnosis

The differential diagnosis for an individual believed to have Buschke–Ollendorff syndrome is the following:<ref name="orph">

Orphanet: Buschke Ollendorff syndrome(link). www.orpha.net.

</ref>

• Melorheostosis
• Sclerotic bone metastases.

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.<ref name=emed/>

See also

• Osteopoikilosis
• List of cutaneous conditions
• Melorheostosis

Further reading

• ,

 Buschke-Ollendorff syndrome: a novel case series and systematic review, 
 The British Journal of Dermatology, 
 2016,
 Vol. 174(Issue: 4),
 pp. 723–729,
 DOI: 10.1111/bjd.14366,
 PMID: 26708699,

• ,

 Radiological findings in skin diseases and related conditions. online version, 
  
 Stuttgart:Thieme, 
  
  
  
 ISBN 9783131161215,

External links

• PubMed

   This article is a medical stub. You can help WikiMD by expanding it!