Genetic Pathways, Part 1
August 18, 2015|Cutis
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As part of our commitment to resident education, Cutis is excited to offer this monthly section with board-relevant, easy-to-review material.
This fact sheet details some of the important pathways in dermatology and the clinical manifestations seen with these genetic derangements.
2. Mutation of this enzyme leads to uncontrolled proteolytic activity causing degradation of lamellar body lipid processing enzymes.
a. FALDH (fatty aldehyde dehydrogenase)
b. LEKTI (lympho-epithelial Kazal-type-related inhibitor)
,c. PEX7 (perioxsomal biogenesis factor 7)
d. PHYH (phytanoyl-CoA hydroxylase)
e. NSDHL (NAD[P] dependent steroid dehydrogenase-like)
