Muckle-Wells syndrome

info · Syndrome · ICD-10: M04.2

A syndrome characterized by episodic skin rash, arthralgias, and fever associated with late-onset sensorineural deafness and renal amyloidosis that has_material_basis_in heterozygous mutation in the NLRP3 gene on chromosome 1q44.

Signs and symptoms

Conjunctival hyperemia
Hearing impairment
Short stature
Deep dermal perivascular inflammatory infiltrate
Chronic fatigue
Increased intracranial pressure
Headache
Elevated erythrocyte sedimentation rate
Polyarticular arthritis
Urticaria

Medications that may treat it

anakinra canakinumab

Also known as: MWS; neutrophilic urticaria