From the Guidelines
Yes, CINCA/NOMID can cause nail changes, including dystrophic nails, as part of its broader dermatological manifestations. The disease is characterized by a range of skin and nail abnormalities due to the systemic inflammation caused by mutations in the NLRP3 gene. While the provided evidence primarily discusses cardio-facio-cutaneous syndrome, it highlights the importance of dermatological findings in genetic disorders, including nail changes such as dystrophic nails with rapid nail growth, as seen in other conditions like CFC 1. Key features of CINCA/NOMID include:
- Urticaria-like rash
- Papules
- Pustules
- Nail changes such as ridging, pitting, and dystrophy Treatment typically involves IL-1 blocking agents, which may improve both systemic symptoms and dermatological manifestations, including nail changes. Regular dermatological assessment is crucial for monitoring these changes and adjusting treatment as necessary. It's essential to consider the most recent and highest quality studies when making recommendations, but given the information available, the focus remains on managing the systemic inflammation to improve quality of life and reduce morbidity and mortality in patients with CINCA/NOMID.
From the Research
Clinical Features of CINCA Syndrome
- CINCA syndrome is a chronic disease with early onset affecting mainly the central nervous system, bones, and joints, and may lead to permanent damage 2
- The syndrome is characterized by a chronic multi-organ inflammatory process, including cutaneous, articular, and neurological changes 3
- Common symptoms include urticarial skin rash, central nervous system involvement, and articular signs 4
Treatment and Management
- Treatment with anti-interleukin-1 (IL-1) agents, such as anakinra, has been shown to be effective in managing the symptoms of CINCA syndrome 5, 6, 4
- Early treatment with IL-1 inhibitors can lead to a complete clinical and laboratory response, and may prevent chronic complications 6