Genodermatoses II

Abstract

The present chapter deals with common monogenetic diseases, which are also associated with skin manifestations. These include diseases that are usually classified as phacomatoses, such as neurofibromatosis, tuberous sclerosis, or Von Hippel-Lindau syndrome, and diseases with chromosomal aberrations, for instance, Turner syndrome and Klinefelter syndrome. In addition, diseases that are characterized by defects in DNA repair or genetic instability are described. These include xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome, but also progeroid diseases such as Werner and Bloom syndrome or Hutchinson-Gilford and Rothmund-Thomson syndromes. A further chapter deals with diseases showing disturbances in tissues, which develop during embryogenesis from the ectoderm - skin, hair, nails, and sweat glands - the so-called ectodermal dysplasia syndromes.