Summary about Disease
Buschke-Ollendorff syndrome (BOS) is a rare genetic disorder primarily affecting the skin and bones. It is characterized by the presence of small, benign connective tissue nevi (CTN) on the skin, often referred to as dermatofibrosis lenticularis disseminata. Skeletal abnormalities, mainly osteopoikilosis (multiple spots of increased bone density), are also common. While generally asymptomatic, BOS can sometimes be associated with joint pain or limited range of motion.
Symptoms
Skin: The most common symptom is the presence of small, skin-colored to yellowish-white papules (CTN) on the skin. These are usually found on the trunk, buttocks, and thighs, but can occur elsewhere. They are typically asymptomatic and do not itch or cause pain.
Bones: Osteopoikilosis is frequently asymptomatic and discovered incidentally during X-rays performed for other reasons. In rare cases, it may be associated with joint pain or stiffness.
Other (rare): Some individuals with BOS may experience short stature, spinal stenosis, or other skeletal abnormalities.
Causes
Buschke-Ollendorff syndrome is caused by mutations in the LEMD3 gene. This gene provides instructions for making a protein that is involved in bone and connective tissue development. Mutations in *LEMD3* disrupt the normal function of this protein, leading to the characteristic skin and bone abnormalities seen in BOS. BOS is inherited in an autosomal dominant pattern, meaning that only one copy of the mutated gene is sufficient to cause the disorder.
Medicine Used
There is no specific medication to cure Buschke-Ollendorff syndrome. Treatment focuses on managing any symptoms that may arise. Pain relievers may be used for joint pain. If skin lesions are cosmetically bothersome, surgical removal (excision, laser therapy) may be considered, but is generally not necessary.
Is Communicable
No, Buschke-Ollendorff syndrome is not communicable. It is a genetic disorder caused by a gene mutation and cannot be spread from person to person.
Precautions
There are no specific precautions to prevent Buschke-Ollendorff syndrome, as it is a genetic condition. Genetic counseling may be beneficial for families with a history of BOS who are considering having children. Management focuses on monitoring and addressing any symptoms that arise, such as joint pain.
How long does an outbreak last?
Buschke-Ollendorff syndrome is not characterized by "outbreaks." It is a chronic condition. The skin lesions (CTN) typically develop during childhood or adolescence and persist throughout life. The bone abnormalities (osteopoikilosis) are also a lifelong finding.
How is it diagnosed?
Buschke-Ollendorff syndrome is typically diagnosed based on a combination of:
Clinical Examination: The presence of characteristic skin lesions (CTN).
Radiological Findings: X-rays showing osteopoikilosis (multiple small, round densities) in the bones.
Family History: A family history of BOS can support the diagnosis.
Skin Biopsy: A skin biopsy may be performed to confirm the diagnosis of CTN.
Genetic Testing: Genetic testing to identify a mutation in the LEMD3 gene can confirm the diagnosis, but is not always necessary.
Timeline of Symptoms
Childhood/Adolescence: Skin lesions (CTN) typically appear. Osteopoikilosis is often present but may not be detected until later in life if X-rays are not performed.
Adulthood: Skin lesions remain stable. Bone abnormalities persist. Some individuals may develop joint pain or stiffness. The condition is generally lifelong.
Important Considerations
Benign Nature: It is important to emphasize that Buschke-Ollendorff syndrome is generally a benign condition. The skin lesions are not cancerous and the bone abnormalities are typically asymptomatic.
Differential Diagnosis: BOS needs to be differentiated from other conditions with similar skin or bone findings, such as scleroderma, mastocytosis, or other bone dysplasias.
Genetic Counseling: Genetic counseling can provide information about the inheritance pattern of BOS and the risk of passing the condition on to future generations.
Symptom Management: While there is no cure for BOS, symptomatic treatment can help manage any pain or discomfort.
Monitoring: Regular monitoring may be recommended to assess for any potential complications, such as spinal stenosis.