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

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