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Systemic mastocytosis: variable manifestations can lead to a challenging diagnostic process
  1. Susanna Nallamilli,
  2. Aideen O’Neill,
  3. Andrew Wilson,
  4. Mallika Sekhar and
  5. Jonathan Lambert
  1. Haematology, University College London Hospitals NHS Foundation Trust, London, UK
  1. Correspondence to Dr Susanna Nallamilli, s.nallamilli{at}


Systemic mastocytosis results from proliferation and activation of an abnormal mast cell clone. It is a heterogeneous disorder with clinical manifestations ranging from skin lesions alone to aggressive multi-organ infiltration and decreased survival. Given these varied manifestations, diagnosis can be difficult. We describe the case of a woman who presented with rash and diarrhoea and had a history of anaphylactic reactions. Over a protracted period, the patient’s symptoms were investigated by a number of specialties including gastroenterology, dermatology, immunology and haematology. Morphological, immunohistochemical and molecular analysis of bone marrow samples ultimately led to a diagnosis of systemic mastocytosis. Management with leukotriene and histamine antagonists resulted in significant improvement in symptoms and quality of life. The case serves to highlight the protean manifestations of systemic mastocytosis, the tests available to diagnose it and the agents available to treat it.

  • haematology (incl blood transfusion)
  • gastrointestinal system
  • skin
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  • Contributors All authors were involved in the conception of the manuscript. SN and AO’N prepared the manuscript. JL, MS and AW cared for the patient. All authors have commented on the manuscript and confirmed their satisfaction with it.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Patient consent for publication Obtained.

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