CL is a group of inherited connective tissue disorders, all characterized by loose redundant skin folds and variable systemic involvement. Most known defects genetic defects affect the assembly and maintenance of elastic fibers.

  • Specific challenges associated with the recognition of the condition

All entities are rare, and show considerable overlap

  • Specific challenges associated with the diagnosis

Detailed clinical phenotyping – genetic testing – no clear diagnostic guidelines

  • Specific challenges associated with the treatment

Lack of strict guidelines – mainly expert opinion

  • Specific challenges associated with care of these patients over their lifespan – Quality of life issues – Gaps accross the care

Joint pain, complications of fragility of organs and vasculature, pulmonary, gastro-intestinal and genitourinary complications. Lack of natural history studies, since all entities within the cutis laxa spectrum

 

Indicence : n/a

Prevalence : Unknown (only around 200 families being reported in the literature to date.)

 

 

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