cutis laxa type I
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Introduction
Most severe form, poorest prognosis
Pathology
- see cutis laxa
- addition to the skin, internal organs enriched in elastic fibers, such as the lung & arteries, are affected.
Genetics
- associated with defects in fibulin-4 gene (EFEMP2)
- associated with defects in fibulin-5 gene)
- associated with defects in LOX