From the Research
Buschke-Ollendorff syndrome is a rare genetic disorder that does not typically require treatment, as it is generally a benign condition that does not cause significant health problems or affect lifespan. This condition is characterized by benign growths in connective tissues, primarily affecting the skin and bones, and presents with two main features: multiple firm, painless skin nodules called elastomas or connective tissue nevi, and small areas of increased bone density called osteopoikilosis that appear as white spots on X-rays 1. The syndrome is caused by mutations in the LEMD3 gene and is inherited in an autosomal dominant pattern, meaning a person needs only one copy of the altered gene to develop the syndrome. Most patients are asymptomatic, with the skin lesions and bone findings often discovered incidentally during examinations for other reasons.
Key Features and Diagnosis
- The skin lesions in Buschke-Ollendorff syndrome can be of either elastic tissue (juvenile elastoma) or collagenous composition (dermatofibrosis lenticularis disseminata) 1.
- Osteopoikilosis, a key feature of the syndrome, is characterized by small areas of increased bone density that are usually asymptomatic and discovered incidentally on X-rays 2.
- Diagnosis of Buschke-Ollendorff syndrome can be challenging and requires a high index of suspicion, especially when skin lesions are the primary presenting feature 3.
Management and Prognosis
- No specific treatment is required for Buschke-Ollendorff syndrome, as it does not typically cause health problems or affect lifespan. However, if the skin lesions are cosmetically concerning, they can be surgically removed 1.
- Genetic counseling may be beneficial for affected individuals planning to have children, as there is a 50% chance of passing the condition to offspring 2.
- Regular medical follow-up is recommended to monitor for any rare complications, though these are uncommon in this generally benign condition 4.
Rare Associations and Complications
- There have been reports of associations between Buschke-Ollendorff syndrome and other conditions, such as protein C deficiency 4 and cognitive delays 2, though these are not common features of the syndrome.
- Osteopoikilosis has been associated with shortened stature and spinal stenosis in some cases, highlighting the importance of monitoring for potential complications 2.