Premium
An unusual urticarial eruption: Familial cold autoinflammatory syndrome
Author(s) -
Nguyen Rebecca,
Robinson Aaron,
Nicholls Katherine,
Varigos George,
Dolianitis Con
Publication year - 2016
Publication title -
australasian journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.67
H-Index - 53
eISSN - 1440-0960
pISSN - 0004-8380
DOI - 10.1111/ajd.12361
Subject(s) - medicine , family history , dermatology , medical history , immunology , serology , physical examination , genetic testing , pathology , antibody
This is a case of a 26‐year‐old Caucasian woman with a lifelong history of an episodic urticaria associated with arthralgia, precipitated by exposure to cold. She had no other significant past medical history. She reported several family members with a history of very similar episodic eruptions without definitive diagnoses. An examination showed an urticarial eruption over her limbs with no other systemic findings. A baseline full blood examination, serology and autoimmune screen were normal. A skin biopsy was consistent with urticaria, with dermal oedema and a perivascular infiltrate. Following genetic testing, she was found to be heterozygous for a mutation, p. A la439 V al in the NLRP3 gene, known to cause familial cold autoinflammatory syndrome ( FCAS ), which typically presents with urticaria, conjunctivitis and arthralgia, as described in this patient. FCAS is one subtype of a group of conditions known as cryopyrin‐associated periodic syndromes ( CAPS ). CAPS are rare, autosomal dominant inherited conditions with a spectrum of phenotypes, characterised by increased interleukin‐1β release with subsequent local and systemic proinflammatory and pyrogenic effects.