An Association of Pure Red Cell Aplasia with Histiocytosis-Lymphadenopathy Plus Syndrome: A Rare Case Report

Abstract

Histiocytosis-lymphadenopathy plus syndrome (HLPS) is a rare autosomal recessive disease caused by a mutation in the SLCA29A3 gene. It is a group of disorders that includes H syndrome, pigmented hypertrichosis with insulin-dependent diabetes mellitus (PHID), Faisalabad histiocytosis and familial Rosai-Dorfman disease (RDD). The association of PRCA with HLPS is extremely rare and largely unknown. We report a rare case of a 5-year-old girl who presented with severe transfusion dependent anemia, subsequently confirmed to be PRCA and only after extensive workup could be diagnosed with HLP syndrome. Pure Red Cell Aplasia (PRCA) is a rare hematological disorder characterized by the absence or near absence of erythroid precursors in the bone marrow, leading to anemia due to a significant reduction in the production of red blood cells. Histiocytosis-lymphadenopathy plus syndrome is an autosomal recessive disorder associated with autoinflammatory features. A diagnosis of PRCA associated with HLPS requires a comprehensive diagnostic approach to rule out other potential causes of anemia and histiocytic proliferation. This case report presents a rare instance of PRCA associated with HLPS, exploring the diagnostic challenges.

Cite this article as: Pathak C, Aggarwal N, Jitendrabhai RP, Verma S, Jain S. An association of pure red cell aplasia with histiocytosis-lymphadenopathy plus syndrome: a rare case report. Pediatr Acad Case Rep. 2026;5(2):32-6.