Buschke–Ollendorff syndrome (BOS) is a rare

genetic disorder A genetic disorder is a health problem caused by one or more abnormalities in the genome. It can be caused by a mutation in a single gene (monogenic) or multiple genes (polygenic) or by a chromosomal abnormality. Although polygenic disorde ...

associated with LEMD3. It is believed to be inherited in an

autosomal An autosome is any chromosome that is not a sex chromosome. The members of an autosome pair in a diploid cell have the same morphology, unlike those in allosomal (sex chromosome) pairs, which may have different structures. The DNA in autosomes ...

dominant manner. It is named for

Abraham Buschke Abraham Buschke (27 September 1868 – 25 February 1943) was a Jewish German dermatologist who was a native of Nakel in the Province of Posen. Life In 1891 he received his doctorate in Berlin, and afterwards was a surgical assistant in Greifswa ...

and Helene Ollendorff Curth, 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.

Signs and symptoms

The signs and symptoms of this condition are consistent with the following (possible complications include aortic stenosis and

hearing loss Hearing loss is a partial or total inability to hear. Hearing loss may be present at birth or acquired at any time afterwards. Hearing loss may occur in one or both ears. In children, hearing problems can affect the ability to acquire spoken la ...

): :::::::* Osteopoikilosis :::::::*Bone pain :::::::*

Connective tissue Connective tissue is one of the four primary types of animal tissue, along with epithelial tissue, muscle tissue, and nervous tissue. It develops from the mesenchyme derived from the mesoderm the middle embryonic germ layer. Connective tissue ...

nevi :::::::* Metaphysis abnormality

Pathogenesis

Buschke–Ollendorff syndrome is caused by one important factor: mutations in the LEMD3 gene (12q14), located on

chromosome A chromosome is a long DNA molecule with part or all of the genetic material of an organism. In most chromosomes the very long thin DNA fibers are coated with packaging proteins; in eukaryotic cells the most important of these proteins ar ...

12. Among the important aspects of Buschke–Ollendorff syndrome condition, genetically speaking are: Bone Cells (10835380615)

:::::::::* LEMD3 (protein) referred also as

MAN1 LEM domain-containing protein 3 (LEMD3), also known as MAN1, is an integral Inner nuclear membrane proteins, protein in the inner nuclear membrane (INM) of the nuclear envelope. It is encoded by the ''LEMD3'' gene and was first identified after it ...

, is an important protein in inner nuclear membrane. :::::::::* LEMD3 gene gives instructions for producing protein that controls signaling for

transforming growth factor-beta Transforming growth factor beta (TGF-β) is a multifunctional cytokine belonging to the transforming growth factor superfamily that includes three different mammalian isoforms (TGF-β 1 to 3, HGNC symbols TGFB1, TGFB2, TGFB3) and many other sign ...

. :::::::::* LEMD3 gene helps in the bone morphogenic protein pathway :::::::::* Both of the above pathways help grow new

bone cells An osteocyte, an oblate shaped type of bone cell with dendritic processes, is the most commonly found cell in mature bone. It can live as long as the organism itself. The adult human body has about 42 billion of them. Osteocytes do not divide an ...

:::::::::* 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

Histopathology of dermatofibrosis lenticularis disseminata in Buschke-Ollendorff syndrome

The diagnosis of this condition can be ascertained via several techniques one such method is genetic testing, as well as: *

X-ray X-rays (or rarely, ''X-radiation'') are a form of high-energy electromagnetic radiation. In many languages, it is referred to as Röntgen radiation, after the German scientist Wilhelm Conrad Röntgen, who discovered it in 1895 and named it ' ...

Ultrasound Ultrasound is sound waves with frequencies higher than the upper audible limit of human hearing. Ultrasound is not different from "normal" (audible) sound in its physical properties, except that humans cannot hear it. This limit varies fr ...

* Histological test

Differential diagnosis

The differential diagnosis for an individual believed to have Buschke–Ollendorff syndrome is the following: *

Melorheostosis Melorheostosis is a medical developmental disorder and mesenchymal dysplasia in which the bony cortex widens and becomes hyperdense in a sclerotomal distribution. The condition begins in childhood and is characterized by thickening of the bones ...

* Sclerotic bone

metastases Metastasis is a pathogenic agent's spread from an initial or primary site to a different or secondary site within the host's body; the term is typically used when referring to metastasis by a cancerous tumor. The newly pathological sites, the ...

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.

References

External links

* {{DEFAULTSORT:Buschke-Ollendorff syndrome Autosomal dominant disorders Syndromes Dermal and subcutaneous growths Cytoskeletal defects