Annals of Hematology

, Volume 97, Issue 7, pp 1295–1296 | Cite as

Langerhans cell histiocytosis and primary hemophagocytic lymphohistiocytosis with persistent clonal T-large granular lymphocyte proliferation

  • Süreyya Savaşan
  • Janet Poulik
  • Ali Gabali
Letter to the Editor

Dear Editor,

Langerhans cell histiocytosis (LCH) is a clonal neoplastic disorder characterized by hyper-active RAS-RAF-MEK-ERK pathway due to acquired BRAF or MAP2K1 mutations [1], whereas cytokine storm secondary to inherited genetic defects in lymphocyte granule-secretory death pathway-related genes is central to primary hemophagocytic lymphohistiocytosis (pHLH). The histiocytic cells in HLH originate from monocyte/macrophage lineage, while LCH from Langerhans cell (LC) precursors. Though LCH has been reported simultaneously with secondary HLH rarely [2], not with pHLH.

An 18-month-old male patient presented sick with fevers, significant liver and spleen enlargement, and lamellar ichthyosis skin lesions due to double heterozygous R315H and c.877-2 A>G mutations in the transglutaminase 1 gene (Fig. 1a, b) and was found to have anemia, thrombocytopenia, and elevated levels of LDH, triglycerides, and soluble interleukin-2 receptors with mildly increased ferritin. Cytomegalovirus PCR...


Compliance with ethical standards

The patient’s mother has signed the photography release form/consent.

Conflict of interest

The authors declare that they have no conflict of interest.


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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2018

Authors and Affiliations

  1. 1.Carman and Ann Adams Department of Pediatrics, Children’s Hospital of Michigan, Division of Hematology/Oncology, Pediatric Blood and Marrow Transplantation Program, Barbara Ann Karmanos Cancer CenterWayne State University School of MedicineDetroitUSA
  2. 2.Department of PathologyWayne State University School of MedicineDetroitUSA

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