An unusual urticarial eruption: Familial cold autoinflammatory syndrome

Area of Science:

• Genetics
• Immunology
• Dermatology

Background:

• Familial cold autoinflammatory syndrome (FCAS) is a rare, autosomal dominant inherited autoinflammatory disorder.
• FCAS is characterized by recurrent episodes of rash, fever, and joint pain triggered by cold exposure.
• It is part of the broader group of cryopyrin-associated periodic syndromes (CAPS).

Purpose of the Study:

• To present a case of a patient diagnosed with FCAS.
• To highlight the genetic basis and clinical presentation of FCAS.
• To emphasize the importance of genetic testing in diagnosing rare autoinflammatory diseases.

Main Methods:

• Clinical case presentation and patient history.
• Physical examination and standard laboratory investigations (blood tests, autoimmune screen).
• Skin biopsy for histopathological analysis.
• Genetic testing to identify mutations in the NLRP3 gene.

Main Results:

• The patient presented with lifelong episodic urticaria and arthralgia triggered by cold.
• Genetic analysis revealed heterozygosity for the p.Ala439Val mutation in the NLRP3 gene.
• Skin biopsy confirmed urticaria with dermal edema and perivascular infiltrate.
• Family history revealed similar symptoms in relatives, suggesting an inherited condition.

Conclusions:

• The patient's presentation and genetic findings are consistent with Familial Cold Autoinflammatory Syndrome (FCAS).
• This case underscores the role of NLRP3 mutations in FCAS and the broader CAPS spectrum.
• Early diagnosis through genetic testing is crucial for managing FCAS and its associated inflammatory effects.