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Hyperzincemia and hypercalprotectinemia

ORPHA:251523· ICD-10 E83.2

Definition

A rare inborn error of zinc metabolism characterized by recurrent infections, hepatosplenomegaly, anemia (unresponsive to iron supplementation) and chronic systemic inflammation in the presence of high plasma concentrations of zinc and calprotectin. Patients typically present dermal ulcers or other cutaneous manifestations (e.g. inflammation) and arthralgia. Severe epistaxis and spontaneous hematomas have also been reported.

Prevalence
<1 / 1 000 000
Inheritance
Unknown
Age of onset
Childhood