Cutaneous clues to diagnose autoinflammatory diseases

Cutaneous manifestations of autoinflammatory diseases

“…Symptoms and flares in the group of autoinflammatory urticarial dermatosis are often triggered by cold or emotional stress. [ 5 ] The presence of chronic urticaria in infants, especially triggered by cold, is a cue for AIDs.…”

“…The urticarial rash, which is listed as a major symptom in the Eurofever/PRINTO classification criteria for CAPS, [ 7 ] affects almost all patients with NLRP3 -AID (89%) and is similar in all three phenotypes. [ 5 ] The rashes, especially in FCAS, often appear hours after cold exposure in areas not directly exposed to cold, such as upper arm, trunk, buttocks, or thighs with symmetrical distribution, accompanied by fever, headache, arthralgia, and conjunctivitis. [ 8 , 9 ] The lesions ( Figure 1A ) are pink or pale red macules or slightly raised papules/plaques, which are usually neither edematous nor annular but may have a peripheral halo of vasoconstriction.…”

“…The rashes are typically not itchy or with only slight pruritus but are often sensitive to touch. [ 5 , 8 ] Individual lesions resolve within 24–48 h without scarring or hyperpigmentation, although more solid and persistent lesions mimicking urticarial vasculitis can also develop. [ 10 ] Urticarial rashes in NLRP3 -AID are reported to be more flattened and last longer than in spontaneous urticaria, but they can be indistinguishable.…”

“…[ 14 ] Skin granulomas may appear on the face as tender, red-brown, firm plaques and nodules, eventually leading to skin atrophy. [ 5 ]…”

“…PG may appear spontaneously or develop after minimal trauma or injection (pathergy phenomenon). [ 5 ] The typical histology of PG shows epidermal ulceration and a dermal-hypodermal inflammatory infiltrate mainly consisting of neutrophils, without fibrinoid necrosis of vessel wall. [ 10 ] Special histochemical stains and microbiological cultures must be negative.…”