Monogenic autoinflammatory syndromes at a dermatological level

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...

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Bibliographic Details
Published in:Archives of Dermatological Research 2011-08, Vol.303 (6), p.375-380
Main Authors: Rigante, Donato, Cantarini, Luca
Format: Article
Language:English
Subjects:
Animals
Biological and medical sciences
Carrier Proteins - genetics
Dermatology
Diagnosis, Differential
Hereditary Autoinflammatory Diseases - diagnosis
Hereditary Autoinflammatory Diseases - genetics
Hereditary Autoinflammatory Diseases - pathology
Hereditary Autoinflammatory Diseases - physiopathology
Humans
Immunity, Innate - genetics
Medical sciences
Medicine
Medicine & Public Health
Mutation - genetics
NLR Family, Pyrin Domain-Containing 3 Protein
Phosphotransferases (Alcohol Group Acceptor) - genetics
Receptors, Tumor Necrosis Factor - genetics
Review
Skin - pathology
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Summary: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.
ISSN:0340-3696
1432-069X
DOI:10.1007/s00403-011-1134-z