Description of the disease * EnglishPolish Pobierz sekcję do PDF Definicja 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 Klasyfikacja Disease Synonimy Hz/Hc PAMI syndrome PSTPIP1-associated myeloid-related proteinemia inflammatory syndrome Kod ORPHA 251523 Kod OMIM 194470 Kod ICD10 E83.2 Kod ICD11 - *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