Buschke–Ollendorff syndrome

Buschke–Ollendorff syndrome (BOS) is a rare genetic skin disorder associated with LEMD3 that typically presents with widespread painless papules.^[1][5]

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

It is inherited in an autosomal dominant manner.^[6][7] Conditions that may appear similar include tuberous sclerosis, pseudoxanthoma elasticum, neurofibroma, and lipoma, among others.^[1]

Its frequency is almost 1 case per every 20,000 people, and it is equally found in both males and females.^[4] It is named for Abraham Buschke and Helene Ollendorff Curth, who described the condition in one female in 1928.^[1][8]

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.^[9]

Among the important aspects of Buschke–Ollendorff syndrome condition, genetically speaking are:^[9][10][11]

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^[12]

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

• List of cutaneous conditions