Zahnanomalien bei Genodermatosen

Hair, nails and sweat glands as well as the teeth do all represent adnexal structures of the ectoderm. Hence, it is conceivable why mutations within genes controlling embryonic development may simultaneously involve the skin and the teeth. Autosomal dominant phenotypes showing a combination of cutaneous and dental anomalies include tuberous sclerosis, tricho-dento-osseous syndrome, AEC syndrome, EEC syndrome, Witkop tooth-nail syndrome, amelogenesis imperfecta with terminal onycholysis, and Böök syndrome. Autosomal recessive genodermatoses associated with dental defects are Papillon-Lefèvre syndrome, GAPO syndrome, Steijlen syndrome, and junctional epidermolysis bullosa. X-linked male-lethal disorders involving both skin and teeth include incontinentia pigmenti, Goltz syndrome, and OFD1 syndrome. Within the group of X-linked non-lethal phenotypes, Christ-Siemens-Touraine syndrome is a well-known disease, whereas ectodermal dysplasia of Zonana represents a recently delineated entity that is caused by “hypomorphic” mutations within the NEMO gene. This disorder is likewise associated with pronounced hypohidrosis, which is why the term “X-linked hypohidrotic ectodermal dysplasia” has become ambiguous and should no longer be used as a synonym for Christ-Siemens-Touraine syndrome.