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cutis laxa type I
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:
1) associated with defects in fibulin-4 gene (EFEMP2)
2) associated with defects in fibulin-5 gene)
3) associated with defects in LOX
General
cutis laxa; elastolysis; loose skin; pachydermatocele
Database Correlations
OMIM 219100
References
OMIM :accession 219100