PMID- 29742056
OWN - NLM
STAT- MEDLINE
DCOM- 20180731
LR  - 20180731
IS  - 0392-856X (Print)
IS  - 0392-856X (Linking)
VI  - 36 Suppl 110
IP  - 1
DP  - 2018 Jan-Feb
TI  - A dermatologic perspective on autoinflammatory diseases.
PG  - 32-38
AB  - Autoinflammatory diseases (AIDs) encompass a heterogeneous group of disorders 
      pathogenetically related to an abnormal activation of the innate immunity and 
      clinically characterised by aseptic inflammation in the affected organs in the 
      absence of high titer of circulating autoantibodies or autoreactive T cells. In 
      classic monogenic AIDs, the skin is frequently involved with a wide range of 
      cutaneous lesions. Monogenic AIDs result from different mutations in a single 
      gene, which regulates the innate immunity. These mutations cause an uncontrolled 
      activation of the inflammasome, leading to an overexpression of interleukin (IL)- 
      1beta. IL-1beta is the pivotal cytokine which is responsible for the exaggerated 
      production of cytokines and chemokines that induce the recruitment of 
      neutrophils, key cells in autoinflammation. Paradigmatic autoinflammatory forms 
      are the cryopyrin-associated periodic syndromes (CAPS), whose skin involvement 
      consists of urticarial lesions. Similar IL-1beta-mediated autoinflammatory 
      pathomechanisms also occur in deficiency of IL-1 receptor antagonist (DIRA) and 
      deficiency of IL-36 receptor antagonist (DITRA), whose cutaneous appearance is 
      characterised by pustular lesions, as well as in pyogenic arthritis, pyoderma 
      gangrenosum and acne (PAPA) syndrome. Pyoderma gangrenosum, which is the 
      cutaneous hallmark of the PAPA syndrome, is a prototypic neutrophil-mediated skin 
      disease, manifesting as single or multiple ulcers with undermined, raised 
      erythematous to violaceous borders. This review is focused on the CAPS, 
      DIRA/DITRA and PAPA syndromes with emphasis on their cutaneous manifestations, as 
      well as their histology and pathophysiology.
FAU - Marzano, Angelo Valerio
AU  - Marzano AV
AD  - Dipartimento di Fisiopatologia Medico-Chirurgica e dei Trapianti, Universita 
      degli Studi di Milano, Unita Operativa di Dermatologia, IRCCS Fondazione Ca' 
      Granda, Ospedale Maggiore Policlinico, Milano, Italy. angelo.marzano@unimi.it.
FAU - Damiani, Giovanni
AU  - Damiani G
AD  - Dipartimento di Fisiopatologia Medico-Chirurgica e dei Trapianti, Universita 
      degli Studi di Milano, Unita Operativa di Dermatologia, IRCCS Fondazione Ca' 
      Granda, Ospedale Maggiore Policlinico, Milano, Italy.
FAU - Genovese, Giovanni
AU  - Genovese G
AD  - Dipartimento di Fisiopatologia Medico-Chirurgica e dei Trapianti, Universita 
      degli Studi di Milano, Unita Operativa di Dermatologia, IRCCS Fondazione Ca' 
      Granda, Ospedale Maggiore Policlinico, Milano, Italy.
FAU - Gattorno, Marco
AU  - Gattorno M
AD  - UOC Pediatria 2, G. Gaslini Institute, Genova, Italy.
LA  - eng
PT  - Journal Article
PT  - Review
DEP - 20180503
PL  - Italy
TA  - Clin Exp Rheumatol
JT  - Clinical and experimental rheumatology
JID - 8308521
RN  - 0 (Cytokines)
RN  - 0 (Inflammasomes)
RN  - 0 (Interleukin 1 Receptor Antagonist Protein)
RN  - Deficiency of interleukin-1 receptor antagonist
RN  - Pyogenic arthritis, pyoderma gangrenosum, and acne
SB  - IM
MH  - Acne Vulgaris/complications/immunology/pathology
MH  - Arthritis, Infectious/complications/immunology/pathology
MH  - Cryopyrin-Associated Periodic Syndromes/complications/immunology/pathology
MH  - Cytokines/*immunology
MH  - Hereditary Autoinflammatory Diseases/complications/*immunology/pathology
MH  - Humans
MH  - Immunity, Innate/*immunology
MH  - Inflammasomes/*immunology
MH  - Interleukin 1 Receptor Antagonist Protein/immunology
MH  - Pyoderma Gangrenosum/complications/immunology/pathology
MH  - Skin Diseases/etiology/*immunology/pathology
EDAT- 2018/05/10 06:00
MHDA- 2018/08/01 06:00
CRDT- 2018/05/10 06:00
PHST- 2017/11/27 00:00 [received]
PHST- 2017/12/07 00:00 [accepted]
PHST- 2018/05/10 06:00 [entrez]
PHST- 2018/05/10 06:00 [pubmed]
PHST- 2018/08/01 06:00 [medline]
AID - 12471 [pii]
PST - ppublish
SO  - Clin Exp Rheumatol. 2018 Jan-Feb;36 Suppl 110(1):32-38. Epub 2018 May 3.