Autoinflammatory Diseases Presenting in the Skin

Dan Lipsker, Clive E. H. Grattan, Christopher R. Lovell


Autoinflammatory diseases comprise a heterogeneous group of inherited monogenic and acquired polygenic multisystem disorders that may present in the skin and are therefore of importance to dermatologists. The inherited monogenic disorders typically present in childhood. Those that present with urticarial rashes are particularly important to differentiate from chronic urticaria since the pathogenesis, prognosis and treatment are completely different. Cryopyrin‐associated periodic syndrome should be suspected in children with a family history of chronic urticaria that does not respond to H1 antihistamines and who have systemic symptoms of malaise and fever with persistently raised inflammatory indices. Autoinflammatory syndromes also may present with unexplained fever, erysipelas‐like rash (familial Mediterranean fever), oedema (tumour necrosis factor receptor‐associated periodic syndrome), pustulosis and lipoatrophy (chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature), an aseptic pustular dermatosis (deficiency of interleukin 1 receptor antagonist) or pyoderma gangrenosum (pyogenic sterile arthritis, acne and pyoderma gangrenosum). Acquired autoinflammatory syndromes which present in adult life include Schnitzler syndrome and adult Still disease; the differential diagnosis includes urticarial vasculitis.
Keywords autoinflammatory syndromes, periodic fevers, cryopyrinopathies, familial Mediterranean fever, tumour necrosis factor receptor‐associated periodic syndrome, TRAPS, cryopyrin‐associated periodic syndrome, CAPS, chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature, CANDLE, deficiency of interleukin 1 receptor antagonist, DIRA, deficiency of interleukin 36 receptor antagonist, DITRA, pyogenic sterile arthritis, acne and pyoderma gangrenosum, PAPA, Schnitzler syndrome, adult‐onset Still disease, AOSD, interleukin 1


View illustrations for this chapter Loading... Loading... Loading...