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Am J Med Genet C Semin Med Genet. 2004 Nov 15;131C(1):12-9.

Gap junction diseases of the skin.

Author information

  • Dermatology Department, University Hospital Maastricht, the Netherlands. mvst@sder.azm.nl

Erratum in

  • Am J Med Genet C Semin Med Genet. 2006 Feb 15;142(1):58.


Gap junctions are intercellular channels that allow the passage of water, ions, and small molecules. They are involved in quick, short-range messaging between cells and are found in skin, nervous tissue, heart, and muscle. An increasing number of hereditary skin disorders appear to be caused by mutations in one of the genes coding for the constituent proteins of gap junctions, known as connexins. In this review, the currently known connexin disorders that feature skin abnormalities are described: keratitis-ichthyosis deafness syndrome, erythrokeratoderma variabilis, Vohwinkel's syndrome, and a novel disorder called hypotrichosis-deafness syndrome. What is known about the pathogenesis of these disorders is discussed and related to gap junction physiology.

(c) 2004 Wiley-Liss, Inc.

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