Histologic findings in skin biopsy in a JMML rash

A case report and review of literature

Rajib K Gupta, Amna Qureshi, John K. Choi

Research output: Contribution to journalArticle

Abstract

Juvenile myelomonocytic leukemia (JMML), belonging to the category of myeloproliferative/myelodysplastic syndromes, is a rare pediatric hematologic malignancy with frequent skin manifestations commonly in the form of rashes. However, these rashes are not always biopsied and their immunophenotype studied in details. We report one such case in a 2-year-old boy who presented with a 1-month history of nonresolving fever, fatigue, and pallor along with a generalized maculopapular skin rash. The child also had mild hepatomegaly. A complete blood count with differential revealed a hemoglobin value of 8.6 g/L, leukocytosis (white blood cell count of 55.3 X 109/L), absolute monocytosis (27 X 109/L), immature granulocytes, and a platelet count of 126 X 109/L. The bone marrow aspirate showed a hypercellular marrow with trilineage hematopoiesis, 10% blasts (including promonocytes), increased monocytes (46%), and dysplastic changes in the erythroid and myeloid cell lines. These findings along with absence of a BCR-ABL1 fusion gene and a hemoglobin F level of 3.4% were consistent with the diagnosis of JMML, which was confirmed by subsequent positive granulocyte macrophage-colony stimulating factor hypersensitivity and NRAS mutation studies. A skin biopsy of the rash revealed a dermal infiltrate composed predominantly of atypical monocytic cells that were positive for CD68, myeloperoxidase, and lysozyme and negative for CD117, CD1a, and S100, consistent with JMML.

Original languageEnglish (US)
Pages (from-to)130-133
Number of pages4
JournalPediatric and Developmental Pathology
Volume17
Issue number2
DOIs
StatePublished - Jan 1 2014

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Juvenile Myelomonocytic Leukemia
Exanthema
Biopsy
Skin
Monocyte-Macrophage Precursor Cells
Bone Marrow
Pallor
Skin Manifestations
Fetal Hemoglobin
Erythroid Cells
Hepatomegaly
Blood Cell Count
Gene Fusion
Myelodysplastic Syndromes
Leukocytosis
Hematopoiesis
Hematologic Neoplasms
Myeloid Cells
Granulocyte-Macrophage Colony-Stimulating Factor
Muramidase

Keywords

  • Immunohistochemistry
  • Juvenile myelomonocytic leukemia
  • Maculopapular rash
  • Skin biopsy

Cite this

Histologic findings in skin biopsy in a JMML rash : A case report and review of literature. / Gupta, Rajib K; Qureshi, Amna; Choi, John K.

In: Pediatric and Developmental Pathology, Vol. 17, No. 2, 01.01.2014, p. 130-133.

Research output: Contribution to journalArticle

Gupta, Rajib K ; Qureshi, Amna ; Choi, John K. / Histologic findings in skin biopsy in a JMML rash : A case report and review of literature. In: Pediatric and Developmental Pathology. 2014 ; Vol. 17, No. 2. pp. 130-133.
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