A Treatment for Corneal Erosions in EEC?

Corneal abnormalities are a major clinical issue encountered by patients affected by ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome. EEC is caused by dominant mutations in the p63 gene, meaning that EEC patients have one copy of the normal p63 gene and one copy of the mutant p63 gene. It has been suspected that removing the mutant p63…

Ectodermal Dysplasias: How Nails Can Be Affected

The nails in some types of ectodermal dysplasia may be… poorly developed, small, thick or thin, brittle, discolored, cracked, abnormally curved, or ridged. In addition, they may grow slowly or shed periodically and may develop light spots, lines, or patches. The nails and surrounding cuticle area may become infected by fungus, yeast, or bacteria.  If…

Who Could Say "No" to Mary Kaye Richter?

By John A. Stith, M.D. , Professor, Pediatric Otolaryngology Saint Louis University School of Medicine, NFED Board of Directors and Patient Care Council I have been privileged to serve the NFED as a member of the board of directors for several years. It seems like yesterday when Dr. Tim Reichert invited me to consider becoming…