BOS is a autosomal dominant connective tissue disorder characterized by connective tissue nevi and osteopoikilosis due to mutations in the LEMD3 gene.
- Specific challenges associated with the recognition of the condition
Rare disorder charaterized by connective tissue naevi that may appear aspecific. Need for radiographic imaging if the diagnosis is suspected.
- Specific challenges associated with the diagnosis
Due to is rarity and the variability of the clinical symptoms, it remains underrecognized.
- Specific challenges associated with the treatment
There is currently no treatment nor guidelines for treatment.
- Specific challenges associated with care of these patients over their lifespan – Quality of life issues – Gaps accross the care
The disease is mostly benign, but some patients may develop joint pain. Patients may worry about the aesthetic aspects of the disease.
Prevalence : <100 families reported to date