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Facts trump dogma. Ectodermal dysplasias are the bane of the clinician and the geneticist because of their marked clinical and genetic heterogeneity, even within one family. Prophets of purity, often including this author, have complained that the term “ectodermal dysplasia” is used so loosely that it has lost its meaning. Now, researchers refute this argument and clarify this muddy clinical conundrum in a study showing that mutations of a single gene induce a wide variety of clinical effects.
Previous research (JW Dermatol Jun 20 2008 and Sep 29 2004) shows that changes beyond the most common ectodysplasin A mutations may be involved in these disorders, some by affecting function of the receptor and intracellular mediators of proteins. The …