SNP Shot: Genomic Insights

Buschke-Ollendorff syndrome (BOS) is an inherited condition affecting primarily the skin and skeleton. Its hallmark features are connective tissue nevi (skin growths) and osteopoikilosis (bone abnormalities characterized by increased bone density). As a connective tissue disorder, BOS affects tissues providing structure and support throughout the body.

Connective tissue nevi are small, benign skin lumps often appearing in childhood in individuals with BOS. They may be subtle and difficult to detect. Elastomas, composed of elastic fibers, are the most prevalent type of these nevi. Less frequently, individuals may have collagenomas, which consist of collagen.

Osteopoikilosis, meaning "spotted bones" in Greek, involves small, rounded areas of increased bone density visible as bright spots on X-rays. These typically occur near the ends of long bones and in the hands, feet, and pelvis, appearing during childhood. Generally, osteopoikilosis does not cause pain or other health issues.

Less common bone abnormalities can also occur in BOS. A small proportion of individuals may exhibit melorheostosis, characterized by excessive bone growth on bone surfaces resembling dripping candle wax. Usually affecting a single limb, melorheostosis can also involve other areas of the body, leading to chronic pain, joint contractures, and restricted movement.

Inheritance:

BOS follows an autosomal dominant inheritance pattern, meaning only one copy of the mutated gene is required to cause the condition. Often, affected individuals have a parent or other family members with BOS. While most affected individuals show both skin and bone abnormalities, some families have members displaying only skin or only bone manifestations.