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Cytophagic histiocytic panniculitis with fatal haemophagocytic lymphohistiocytosis in a paediatric patient with perforin gene mutation
  1. Rong-Long Chen (ronglongchen{at}yahoo.com.tw)
  1. Buddhist Tzu Chi Medical Center and University, Taiwan
    1. Yung-Hsiang Hsu (yhhsu{at}mail.tcu.edu.tw)
    1. Buddhist Tzu Chi Medical Center and University, Taiwan
      1. Ikuyo Ueda (u194{at}koto.kpu-m.ac.jp)
      1. Kyoto Prefectural University of Medicine, Japan
        1. Shinsaku Imashuku (shinim95{at}mbox.kyoto-inet.or.jp)
        1. Takasago-Seibu Hospital, Japan
          1. Kengo Takeuchi (kengo.takeuchi{at}jfcr.or.jp)
          1. Cancer Institute of Japanese Foundation for Cancer Research, Japan
            1. Benjamin Pang-hsien Tu (btu{at}ibms.sinica.edu.tw)
            1. Academia Sinica, Taiwan
              1. Shih-Sung Chuang (cmh5301{at}mail.chimei.org.tw)
              1. Chi-Mei Medical Center and Taipei Medical University, Taiwan

                Abstract

                Cytophagic histiocytic panniculitis (CHP) is a lobular panniculitis frequently associated with haemophagocytic lymphohistiocytosis (HLH) and has been considered by some as a precursor of subcutaneous panniculitis-like T-cell lymphoma (SPTL). Familial HLH is associated with several hereditary defects including perforin gene (PRF1) mutation. We present an 11-year-old girl with CHP in her extremities with recurrent and fatal HLH. Her skin biopsies showed lobular panniculitis with small lymphocytic infiltration in the subcutaneous fat suggesting SPTL. These lymphocytes were EBV-negative, polyclonal T-cells, which expressed T-cell intracellular antigen-1 and granzyme B but only a few expressed perforin. Autopsy revealed neuropathy and haemophagocytosis without evidence of lymphoma. Analysis of PRF1 showed heterozygous, nonsense mutation with 1168 C>T (Arg390stop) in exon 3. This is the first case linking CHP and HLH with PRF1 mutation. This patient might have familial HLH presenting with CHP or alternatively, CHP as a new form of PRF1 mutation-related haematological disorders.

                • PRF1
                • cytophagic histiocytic panniculitis
                • haemophagocytic lymphohistiocytosis
                • haemophagocytic syndrome
                • subcutaneous panniculitis-like T-cell lymphoma

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