Table 1.
Autoinflammatory diseases that cause skin lesions
| Autoinflammatory disease | Mutant gene/protein/defective molecule of INFLAMMASOME | Inheritance | The age at which symptoms appear | Duration/ frequency | Most characteristic symptoms | Skin lesion | Treatment |
|---|---|---|---|---|---|---|---|
| FCAS | CIAS1/cryopyrin/NLRP3 | AD | Under 6 y.o. | < 24 h/cold induced symptoms | Fever, chills, urticaria-like rash, severe joint pain, conjunctivitis | Maculopapular or urticarial, usually not pruriginous, lesions that may be painful | IL-1 antagonists: Anakinra Rilonacept Canakinumab |
| MWS | CIAS1/cryopyrin/NLRP3 | AD | Up to 6 y.o. | 24–48 h/frequent, sometimes almost permanent | Periodic weakness, severe pain in the limbs, rash, hives similar, hearing loss, amyloidosis | Generalized, non-itching urticaria | IL-1 antagonists: Anakinra Rilonacept Canakinumab |
| NOMID | CIAS1/cryopyrin/NLRP3 | AD | Up to 6 y.o. | Constantly | Fever, urticaria-like rash, destructive arthropathy, chronic meningitis, hearing loss, optic neuritis | Maculopapular or urticarial lesions | IL-1 antagonists: Anakinra Canakinumab |
| FMF | MEFV/pyrin | AR | Under 10 y.o. | 1–3 days/every 4–8 weeks | Fever, peritonitis, rosacea-like rash, inflammation of individual joints, amyloidosis |
Skin lesions appear in up to 43% of the cases; classical manifestation is erysipeloid erythema with well-defined erythematous-oedematous plaques, frequently on legs and feet; pruriginous, urticarial lesions or palmoplantar erythema may also occur |
IL-1 antagonists: Colchicine Thalidomide |
| HIDS | MVK/mevalonate kinase | AR | 6 months (median) | 4–7 days/every 4–6 weeks | Fever, abdominal pain, diarrhoea, maculopapular rash, swollen cervical lymph nodes, sometimes ulceration | Erythematous maculopapular rash, less commonly nodular rash | NSAIDs Corticosteroids Receptor antagonists Leukotriene IL-1 antagonists |
| DIRA | IL-1RN gene/IL-1RA | AR | Present at birth | Constantly | Perinatal-onset pustular dermatitis, joint swelling, painful osteolytic lesions, and periostitis without fever | Perinatal-onset pustular dermatitis Other reported skin changes included: generalised ichthyosis-like changes; nail changes – pitting, separation of nail from nail bed; mouth ulcers; in 1 case – pyoderma gangrenosum |
IL-1 antagonists: Anakinra |
AD – autosomal dominant, AR – autosomal recessive, NSAIDs – nonsteroidal anti-inflammatory drugs, FMF – familial Mediterranean fever, HIDS – hyper-IgD syndrome, DIRA – deficiency of IL-1 receptor antagonist, FCAS – familial cold autoinflammatory syndrome, MWS – Muckle-Wells syndrome, NOMID – neonatal-onset multisystem inflammatory disease, CIASI1 – cold-induced autoinflammatory syndrome 1 gene, NLRP3 – NOD, leucine-rich repeat and pyrin domain containing protein 3, MEFV – Mediterranean fever gene, MVK –- Mevalonate kinase gene, IL-1RN – gene coding interleukin 1 receptor antagonist, IL-1RA - interleukin 1 receptor antagonist.