Severe Langerhans cell histiocytosis in an infant: haemophagocytic syndrome association

Langerhans cell histiocytosis (LCH) is a rare disease of unknown origin with a heterogeneous clinical presentation, varying from benign and self-limited to lethal. It is classified as single or multisystemic, according to the number of organs involved (one or at least two, respectively). Diagnosis can be challenging and is based on the histological and immunophenotypic examination of affected tissues. Secondary haemophagocytic lymphohistiocytosis is rarely reported in association with LCH and may impair its diagnosis. Some authors suggest that the coexistence of the two disorders is more than coincidental. We present a case of multisystem LCH in a 5-month-old infant, with all risk organs involved, in which severity and rapid progression reflect an association with haemophagocytic syndrome.