What is Buschke Ollendorff Syndrome?
Buschke - Ollendorff Syndrome is an inherit pathological condition involving the connective tissue and is characterized by benign skin increase and ivory abnormalcy . The function of the connective tissue paper is to provide strength and flexibility to the dissimilar anatomical structure of the consistence . The abnormal skin increase escort in Buschke - Ollendorff Syndrome is term 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 familial disorder and is make by genetic mutation in gene LEMD3 gene . The function of this gene is to produce protein which raise construction and support of connective tissues . Buschke - Ollendorff Syndrome is an autosomal recessive term meaning that one copy of the defective cistron from either parent is required for the development of Buschke - Ollendorff Syndrome . to boot , unnatural regulation of the extracellular matrix causing buildup of Elastin in the dermal stratum of the skin also result in the ontogenesis of Buschke - Ollendorff Syndrome .
Who is at Risk for Developing Buschke Ollendorff Syndrome?
Buschke Ollendorff Syndrome does not seem to affect any peculiar race , gender , or geographical location .
What Are The Symptoms Of Buschke Ollendorff Syndrome?
The basal presenting features of Buschke - Ollendorff Syndrome are :
Presence of yellowish nodules on the open of the skin mostly see in the appendage and the pelvic part . These wound do not rub and are painless . Connective Tissue Nevi are super lowly bumps on the skin that normally appear during childhood and spread across the body . Osteopoikilosis is a os abnormality in which there are areas of increased bone tightness which can be easily seen on radiographs as areas of vivid spots . This bone mental defectiveness is commonly seen near the end of the long bones of the arms and legs and also the pelvis . The region of eminent bone density can be seen in early childhood . An person with this shape does not have pain of any sort as a termination of Buschke - Ollendorff Syndrome .
Other symptoms of buschke ollendorff syndrome include : impediment of the tear duct , strabismus , little stature , diabetes mellitus , aortic stricture , hearing deficits , benignant lymphoid hyperplasia , congenital spinal stricture , hypo - pigmentationdisc herniation , nerve root compression , clubfoot misshapenness . A rare symptom of buschke ollendorff syndrome is otosclerosis with or withouthearing 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 discourse for Buschke - Ollendorff Syndrome as of now . The intervention for Buschke - Ollendorff Syndrome mostly direct at the symptom due to this condition .
Removal of the Benign Skin Nodules : The clod on the skin present in Buschke - Ollendorff Syndrome can be surgically take , but this surgery is only for cosmetic reason in case if the lumps search unsightly for the affected individual .
get wind Devices & Surgery : Hearing impairment in Buschke - Ollendorff Syndrome can be treated with earreach devices and if recommended by the treating physician , then ear surgical process can also be performed to treat hearing handicap due to Buschke - Ollendorff Syndrome .
Medications & Surgery : Aortic stenosis and diabetes mellitus cause by Buschke - Ollendorff Syndrome can be treat with medications . In some cases , OR may be needed to handle aortal stenosis cause by Buschke - Ollendorff Syndrome .
What is the Prognosis of Buschke Ollendorff Syndrome?
The overall outcome of Buschke - Ollendorff Syndrome depends on the stand for disorders that the patient might be experiencing . The prognosis becomes guarded in cases where areas of increase bone concentration develop intobone cancerlike osteosarcoma . Prognosis again is guard when it comes to disorders like aortal stenosis and diabetes mellitus stimulate due to Buschke - Ollendorff Syndrome .
