Buschke–Ollendorff syndrome

Buschke–Ollendorff sign
Other names	Dermatofibrosis lenticularis disseminata[1]
Buschke–Ollendorff syndrome has an autosomal dominant pattern of inheritance.
Symptoms	Osteopoikilosis, bone pain[2]
Causes	Mutations in the LEMD3 gene.[2]
Diagnostic method	X-ray, ultrasound[3]
Treatment	Surgery for hearing loss(or complications)[4]

Buschke–Ollendorff syndrome (BOS)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[]

Osteopoikilosis

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[]

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]

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 BOS.^[10]

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]

• 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. ^[4]

Treatment for hearing loss may also require surgical intervention.^[4]

See also[]

• Osteopoikilosis
• List of cutaneous conditions
• Melorheostosis

References[]

Further reading[]

• Pope, V.; Dupuis, L.; Kannu, P.; Mendoza-Londono, R.; Sajic, D.; So, J.; Yoon, G.; Lara-Corrales, I. (2016). "Buschke-Ollendorff syndrome: a novel case series and systematic review". The British Journal of Dermatology. 174 (4): 723–729. doi:10.1111/bjd.14366. ISSN 1365-2133. PMID 26708699. S2CID 24066368.
• Helander, Martti Kormano, Ilmari Lindgren; with the collaboration of Inkeri; Lindgren, Ilmari (1999). Radiological findings in skin diseases and related conditions. Stuttgart: Thieme. ISBN 9783131161215. Retrieved 3 February 2018.

External links[]

• Media related to Buschke–Ollendorff syndrome at Wikimedia Commons
• PubMed

Scholia has a topic profile for Buschke–Ollendorff syndrome.