There is no author summary for this article yet. Authors can add summaries to their articles on ScienceOpen to make them more accessible to a non-specialist audience.
Abstract
The epidermal nevus syndromes represent a group of distinct disorders that can be
distinguished by the type of associated epidermal nevus and by the criterion of presence
or absence of heritability. Well defined syndromes characterized by organoid epidermal
nevi include Schimmelpenning syndrome, phacomatosis pigmentokeratotica, nevus comedonicus
syndrome, angora hair nevus syndrome, and Becker nevus syndrome. The molecular basis
of these disorders has so far not been identified. By contrast, the group of syndromes
characterized by keratinocytic nevi comprises three phenotypes with a known molecular
etiology in the form of CHILD (congenital hemidysplasia with ichthyosiform nevus and
limb defects) syndrome, type 2 segmental Cowden disease, and fibroblast growth factor
receptor 3 epidermal nevus syndrome (García-Hafner-Happle syndrome), whereas Proteus
syndrome is still of unknown origin. From this overview, it is clear that a specific
type of these disorders cannot be classified by the name "epidermal nevus syndrome"
nor by the terms "organoid nevus syndrome" or "keratinocytic nevus syndrome."
After completing this learning activity, participants should be able to distinguish
nine different epidermal nevus syndromes by their characteristic features, understand
the practical significance of avoiding terms like "epidermal nevus syndrome" or "keratinocytic
nevus syndrome" to define any specific entity within this group of disorders, and
differentiate between nonhereditary traits and those bearing a genetic risk because
of either Mendelian or non-Mendelian inheritance.
Copyright (c) 2010 American Academy of Dermatology, Inc. Published by Mosby, Inc.
All rights reserved.