Diseases Caused by Genetic or Congenital Defects i

Authors: Albert Gutierrez Mark R Pittelkow Liyan Xi Xiaowen Huang Sweta Rai

Publish Date: 2017

Volume: , Issue: , Pages: 259-277

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Abstract

Skin manifestations are common findings of hereditary autoinflammatory disorders HAIDs and primary immunodeficiency disorders PIDDs The skin functions as both a barrier to and entry point for infections playing a role in activation of an effective immune response Disorders of the immune system have a profound effect on the skin and are often a heralding symptom of immune dysfunction Recognition of these skin manifestations can be helpful in raising suspicion for HAID or PIDD and initiating appropriate therapy These manifestations include but are not limited to cutaneous infection erythroderma eczema granulomatous disorders urticaria autoimmune conditions and changes to the pigment hair and nails This chapter will summarize the extensive body of current knowledge that focuses on the clinical manifestations as well as the continually advancing genetic basis underlying these rare genetic disorders

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