Description of the disease * EnglishPolish Pobierz sekcję do PDF 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 - *Soruce Extended description of the disease Pobierz sekcję do PDF No additional description. Orphanet - interntowa baza danych dotyczących rzadkich chorób i sierochych leków. ©INSERM 1999 - Dostępna na stronie www.orphanet.pl