Cytophagic histiocytic panniculitis with fatal haemophagocytic lymphohistiocytosis in a paediatric patient with perforin gene mutation

Abstract

An 11-year-old girl with CHP and HLH presented with spiking fever and indurated skin nodules over the left thigh (fig 1A). She had psychomotor retardation and spastic type cerebral palsy at 2 years of age and epilepsy at age 7. Physical examination revealed indurated skin nodules and hepatosplenomegaly without lymphadenopathy. Laboratory tests showed anaemia, thrombocytopenia, impaired liver function, and raised triglyceride level, without coagulopathy. Blood and urine cultures were negative. Her fever and skin lesions responded dramatically to prednisolone and intravenous immunoglobulins. She became prednisolone-dependent despite attempts at tapering off by adding methotrexate and cyclosporine A. Several episodes of HLH and infections led to three additional admissions in three years. Six months later, she developed prominent facial bruising and swelling. Virological surveys revealed prior/remote Epstein-Barr virus …