Buschke-Ollendorff syndrome

What is Buschke-Ollendorff? syndrome?

Buschke-Ollendorff syndrome refers to a rare, hereditary disorder affected connective tissues. Also known as disseminated lenticularis dermatofibrosis, dermatoosteopoikilosis and family cutaneous collagenome

Who gets Buschke-Ollendorff syndrome?

Buschke-Ollendorff syndrome occurs in 1 in 20,000 live births worldwide. There seems to be no race, sexual or geographic predilection. Lesions are present at birth.

What causes Buschke-Ollendorff syndrome?

Buschke-Ollendorff syndrome is a genetic disease. The underlying cause of Buschke-Ollendorff syndrome is mutation of the LEMD3 gene, which provides instructions for the manufacture of proteins that support connective tissues.

• The inheritance is in a autosomal recessive pattern (a defective gene must be inherited from both parents).
• May result from abnormal regulation of the the extracellular matrix, resulting in an accumulation of elastin at dermal fur cape

What are the clinical features of Buschke-Ollendorff syndrome?

Buschke-Ollendorff syndrome is characterized by a small connective tissue naevi.

• The torso and extremities are more frequently affected.
• The nevi are elastomas (made of elastin fibers), collagenomas (Made of collagen fibers) or fibroids (made of fibrous tissue).
• They are slightly raised, yellowish papules, nodules or plates.
• These lesions are painless and do not itch.

The non-cutaneous but significant features of Buschke-Ollendorff syndrome include:

• Osteopoikilosis (areas of increased bone density in the long bones of the extremities)
• Nasolacrimal duct obstruction (tear)
• Amblyopia (lazy eye) or strabismus (strabismus)
• Benign lymphoid hyperplasia (growth of lymphatic tissue)
• Short stature
• Mellitus diabetes
• Aortic stenosis (restricted heart valve)
• Hearing impairment / deafness.

How is Buschke-Ollendorff syndrome treated?

Treatment for Buschke-Ollendorff syndrome may include:

• Surgical excision of connective tissue nevi for aesthetic reasons
• Surgical treatment of deafness, if indicated.
• Surgical treatment or other treatment of associated disorders, such as diabetes mellitus or aortic stenosis.

What is the result of Buschke-Ollendorff syndrome?

The outcome of Buschke-Ollendorff syndrome depends on the associated disorders.

• A leading cause of death related to Buschke-Ollendorff syndrome is the development of areas of bone density in bone cancers such as osteosarcoma, chondrosarcoma, or giant cell tumors
• When there are other disorders such as aortic stenosis or diabetes mellitus, the forecast can be serious