TY - CHAP M1 - Book, Section TI - Genodermatoses A1 - Revelo, Olvia A1 - Babcock, Michael A1 - Usatine, Richard P. A2 - Usatine, Richard P. A2 - Sabella, Camille A2 - Smith, Mindy Ann A2 - Mayeaux, E.J. A2 - Chumley, Heidi S. A2 - Appachi, Elumalai Y1 - 2015 N1 - T2 - The Color Atlas of Pediatrics AB - There are more than 100 genetic syndromes with cutaneous manifestations that are referred to as genodermatoses. There are disorders of: pigmentation (e.g., albinism), cornification (e.g., the ichthyoses and Darier disease), vascularization (e.g., Sturge-Weber syndrome), connective tissue (e.g., Ehlers-Danlos syndrome), metabolism (e.g., phenylketonuria), immune system (e.g., Wiskott-Aldrich syndrome), and DNA repair (e.g., xeroderma pigmentosa). Some textbooks are dedicated to the topic of genodermatoses alone.1 This chapter introduces the topic and illustrates several genodermatoses. We will focus our discussion on Darier disease and pachyonychia congenita as an introduction to the genodermatoses. SN - PB - McGraw-Hill Education CY - New York, NY Y2 - 2024/03/29 UR - accesspediatrics.mhmedical.com/content.aspx?aid=1114877984 ER -