Monogenic autoinflammatory syndromes at a dermatological level

Arch Dermatol Res. 2011 Aug;303(6):375-80. doi: 10.1007/s00403-011-1134-z. Epub 2011 Feb 22.

Abstract

Autoinflammatory syndromes include an expanding list of diseases characterized by unprovoked recurrent attacks of systemic inflammation with lack of autoantibodies or autoreactive T-cells. This group of conditions encompasses monogenic diseases with Mendelian inheritance which are caused by specific mutations of different genes regulating the innate immunity: familial Mediterranean fever, mevalonate kinase deficiency syndrome, tumor necrosis factor receptor-associated periodic syndrome, cryopyrin-associated periodic syndromes, pyogenic disorders and deficiency of interleukin-1 receptor antagonist: all these diseases can present with dermatological manifestations, which often represent the prominent clinical features or, in some cases, the presenting sign. The purpose of this review is to increase the recognition among clinicians and mostly dermatologists of the monogenic autoinflammatory syndromes, highlighting the cutaneous signs of these conditions, in consideration of the possibility to prevent irreversible damages when their diagnosis and treatment are precociously established.

Publication types

  • Review

MeSH terms

  • Animals
  • Carrier Proteins / genetics
  • Diagnosis, Differential
  • Hereditary Autoinflammatory Diseases / diagnosis*
  • Hereditary Autoinflammatory Diseases / genetics
  • Hereditary Autoinflammatory Diseases / pathology
  • Hereditary Autoinflammatory Diseases / physiopathology*
  • Humans
  • Immunity, Innate / genetics
  • Mutation / genetics
  • NLR Family, Pyrin Domain-Containing 3 Protein
  • Phosphotransferases (Alcohol Group Acceptor) / genetics
  • Receptors, Tumor Necrosis Factor / genetics
  • Skin / pathology*

Substances

  • Carrier Proteins
  • NLR Family, Pyrin Domain-Containing 3 Protein
  • NLRP3 protein, human
  • Receptors, Tumor Necrosis Factor
  • Phosphotransferases (Alcohol Group Acceptor)
  • mevalonate kinase