Etiology and pathogenesis of ectodermal dysplasias


  • Peter H. Itin

    Corresponding author
    1. Department of Dermatology, University Hospital Basel, Basel, Switzerland
    2. Research Group of Dermatology, Department of Biomedicine, University Hospital Basel, Basel, Switzerland
    • Correspondence to:

      Peter H. Itin, Department of Dermatology, University Hospital Basel, Petersgraben 4, 4031 Basel, Switzerland.


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  • Conflict of interest: none.


Ectodermal dysplasias are a large group of heterogeneous heritable conditions characterized by congenital defects of one or more ectodermal structures and their appendages. The skin and its appendages are mainly composed by ectodermal components but development initiation of appendages is orchestrated by signals of the mesoderm with the help of placodes. A complex network of signaling pathways coordinates the formation and function of ectodermal structures. In recent years much has been discovered regarding the molecular mechanisms of ectodermal embryogenesis and this facilitates a rational basis for classification of ectodermal dysplasia. Interestingly, not only complex ectodermal syndromes but also mono- or oligosymptomatic ectodermal malformations may result from a mutation in a gene that is critical for ectodermal development. Mesodermal, and occasionally endodermal malformations may coexist. Embryogenesis occurs in distinct tissue organizational fields and specific interactions among the germ layers exist that may lead to a wide range of ectodermal dysplasias. Of the approximately 200 different ectodermal dysplasias, about 80 have been characterized at the molecular level with identification of the genes that are mutated in these disorders. Modern molecular genetics will increasingly elucidate the basic defects of these distinct syndromes and shed more light into the regulatory mechanisms of embryology. The upcoming classification of ectodermal dysplasias will combine detailed clinical and molecular knowledge. © 2014 Wiley Periodicals, Inc.