What is Buschke Ollendorff Syndrome?
Buschke-Ollendorff Syndrome is an inherited pathological condition involving the connective tissues and is characterized by benign skin growths and bone abnormalities. The function of the connective tissue is to provide strength and flexibility to the different structures of the body. The abnormal skin growth seen in Buschke-Ollendorff Syndrome is termed as Connective Tissue Nevi and the bone abnormality seen in this condition is termed as osteopoikilosis.
What are the Other Names for Buschke Ollendorff Syndrome?
Buschke Ollendorff Syndrome is also known as: Dermatofibrosis, Dermato-Osteopoikilosis; BOS; Disseminated With Osteopoikilosis; Osteopathia Condensans Disseminata and Dermatofibrosis Lenticularis Disseminate.
What Causes Buschke Ollendorff Syndrome?
As stated, Buschke-Ollendorff Syndrome is an inherited disorder and is caused by mutations in gene LEMD3 gene. The function of this gene is to produce proteins which promote construction and support of connective tissues. Buschke-Ollendorff Syndrome is an autosomal recessive condition meaning that one copy of the defective gene from either parent is required for the development of Buschke-Ollendorff Syndrome. Additionally, abnormal regulation of the extracellular matrix causing buildup of Elastin in the dermal layer of the skin also results in the development of Buschke-Ollendorff Syndrome.
Who is at Risk for Developing Buschke Ollendorff Syndrome?
Buschke Ollendorff Syndrome does not appear to affect any particular race, gender, or geographical location.
What Are The Symptoms Of Buschke Ollendorff Syndrome?
The primary presenting features of Buschke-Ollendorff Syndrome are:
Presence of yellowish nodules on the surface of the skin mostly seen in the extremities and the pelvic region. These lesions do not itch and are painless. Connective Tissue Nevi are extremely small bumps on the skin that normally appear during childhood and spread across the body. Osteopoikilosis is a bone abnormality in which there are areas of increased bone density which can be easily seen on radiographs as areas of bright spots. This bone abnormality is usually seen near the end of the long bones of the arms and legs and also the pelvis. The areas of high bone density can be seen in early childhood. An individual with this condition does not experience pain of any sort as a result of Buschke-Ollendorff Syndrome.
Other symptoms of buschke ollendorff syndrome include: Obstruction of the tear duct, strabismus, short stature, diabetes mellitus, aortic stenosis, hearing deficits, benign lymphoid hyperplasia, congenital spinal stenosis, hypo-pigmentation disc herniation, nerve root compression, clubfoot deformity. A rare symptom of buschke ollendorff syndrome is otosclerosis with or without hearing loss.
How is Buschke Ollendorff Syndrome Diagnosed?
Genetic testing is done to confirm the diagnosis of Buschke Ollendorff Syndrome.
How is Buschke Ollendorff Syndrome Treated?
There is no specific treatment for Buschke-Ollendorff Syndrome as of now. The treatment for Buschke-Ollendorff Syndrome mostly directed at the symptoms caused by this condition.
Removal of the Benign Skin Nodules: The lumps on the skin present in Buschke-Ollendorff Syndrome can be surgically removed, but this surgery is only for cosmetic reasons in case if the lumps look unsightly for the affected individual.
Hearing Devices & Surgery: Hearing impairment in Buschke-Ollendorff Syndrome can be treated with hearing devices and if recommended by the treating physician, then ear surgery can also be performed to treat hearing impairment caused by Buschke-Ollendorff Syndrome.
Medications & Surgery: Aortic stenosis and diabetes mellitus caused by Buschke-Ollendorff Syndrome can be treated with medications. In some cases, surgery may be needed to treat aortic stenosis caused by Buschke-Ollendorff Syndrome.
What is the Prognosis of Buschke Ollendorff Syndrome?
The overall outcome of Buschke-Ollendorff Syndrome depends on the corresponding disorders that the patient might be experiencing. The prognosis becomes guarded in cases where areas of increased bone density develop into bone cancer like osteosarcoma. Prognosis again is guarded when it comes to disorders like aortic stenosis and diabetes mellitus caused due to Buschke-Ollendorff Syndrome.