Hyperzincemia and hypercalprotectinemia

Orpha code: 251523OMIM code: 194470

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.

Disease data
Classification

Disease

Synonyms
Hz/Hc
PAMI syndrome
PSTPIP1-associated myeloid-related proteinemia inflammatory syndrome
ORPHA code
251523
OMIM code
194470
ICD10 code
E83.2
ICD11 code
-

No additional description.

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