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Pathophysiological insights and diagnostic challenges associated with blueberry muffin baby (Review)

  • Authors:
    • Julia Windi Gunadi
    • Frecillia Regina
    • Franky Saputra Supriady
    • Adrian Suhendra
    • Harijadi Pramono
    • Shirley Tanuwireja
  • View Affiliations / Copyright

    Affiliations: Department of Physiology, Faculty of Medicine, Universitas Kristen Maranatha, Bandung, West Java 40164, Indonesia, Department of Pediatrics, Faculty of Medicine, Universitas Kristen Maranatha, Bandung, West Java 40164, Indonesia, Department of Clinical Pathology, Faculty of Medicine, Universitas Kristen Maranatha, Bandung, West Java 40164, Indonesia, Department of Parasitology, Faculty of Medicine, Universitas Kristen Maranatha, Bandung, Bandung, West Java 40164, Indonesia
    Copyright: © Gunadi et al. This is an open access article distributed under the terms of Creative Commons Attribution License [CC BY 4.0].
  • Article Number: 2
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    Published online on: November 20, 2025
       https://doi.org/10.3892/wasj.2025.417
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Abstract

Blueberry muffin baby (BMB) is a clinical manifestation characterized by bluish‑purple macules, papules, or nodules resulting from dermal extramedullary hematopoiesis (EMH) or malignant infiltration. The present review discusses this condition by presenting data from 32 case reports, including 7 cases of infectious etiology (TORCH and other infections, such as COVID‑19), 20 cases of neoplastic origin congenital leukemia (acute myeloid leukemia and aAcute lymphoblastic leukemia), neuroblastoma, rhabdomyosarcoma, Langerhans cell histiocytosis and juvenile xanthogranuloma, and 5 cases of hematological disorders (severe anemia, hemolytic diseases, Gaucher disease, hemophagocytic lymphohistiocytosis and εγδβ‑thalassemia). The present review focuses on the pathophysiology and diagnostic approaches for each etiology, suggesting the role of histopathological and immunohistochemistry markers in differentiating reactive EMH from malignant processes. Early recognition and precise diagnosis are crucial for appropriate management, ranging from supportive care to targeted therapy in malignant conditions. The present review underscores the importance of integrating clinical evaluation, histopathological findings and molecular analysis to optimize the outcomes of neonates with BMB.
View Figures

Figure 1

Conceptual schematic of blueberry
muffin baby integrating infectious, neoplastic, and hematologic
etiologies through pathophysiological perspectives. TLR, Toll-like
receptor; HSPCs, hematopoietic stem and progenitor cells; CSHRH,
congenital self-healing reticulohistiocytosis; JXG, juvenile
xanthogranuloma; ALL, acute lymphoblastic leukemia; AML, acute
myeloid leukemia; LCH, Langerhans cell histiocytosis; RMS,
rhabdomyosarcoma; HLH, hemophagocytic lymphohistiocytosis.

Figure 2

Conceptual diagnostic framework of
blueberry muffin baby. CMV, cytomegalovirus; CSHRH, congenital
self-healing reticulohistiocytosis; JXG, juvenile xanthogranuloma;
ALL, acute lymphoblastic leukemia; AML, acute myeloid leukemia;
LCH, Langerhans cell histiocytosis; RMS, rhabdomyosarcoma; HLH,
hemophagocytic lymphohistiocytosis.
View References

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Spandidos Publications style
Gunadi JW, Regina F, Supriady FS, Suhendra A, Pramono H and Tanuwireja S: Pathophysiological insights and diagnostic challenges associated with blueberry muffin baby (Review). World Acad Sci J 8: 2, 2026.
APA
Gunadi, J.W., Regina, F., Supriady, F.S., Suhendra, A., Pramono, H., & Tanuwireja, S. (2026). Pathophysiological insights and diagnostic challenges associated with blueberry muffin baby (Review). World Academy of Sciences Journal, 8, 2. https://doi.org/10.3892/wasj.2025.417
MLA
Gunadi, J. W., Regina, F., Supriady, F. S., Suhendra, A., Pramono, H., Tanuwireja, S."Pathophysiological insights and diagnostic challenges associated with blueberry muffin baby (Review)". World Academy of Sciences Journal 8.1 (2026): 2.
Chicago
Gunadi, J. W., Regina, F., Supriady, F. S., Suhendra, A., Pramono, H., Tanuwireja, S."Pathophysiological insights and diagnostic challenges associated with blueberry muffin baby (Review)". World Academy of Sciences Journal 8, no. 1 (2026): 2. https://doi.org/10.3892/wasj.2025.417
Copy and paste a formatted citation
x
Spandidos Publications style
Gunadi JW, Regina F, Supriady FS, Suhendra A, Pramono H and Tanuwireja S: Pathophysiological insights and diagnostic challenges associated with blueberry muffin baby (Review). World Acad Sci J 8: 2, 2026.
APA
Gunadi, J.W., Regina, F., Supriady, F.S., Suhendra, A., Pramono, H., & Tanuwireja, S. (2026). Pathophysiological insights and diagnostic challenges associated with blueberry muffin baby (Review). World Academy of Sciences Journal, 8, 2. https://doi.org/10.3892/wasj.2025.417
MLA
Gunadi, J. W., Regina, F., Supriady, F. S., Suhendra, A., Pramono, H., Tanuwireja, S."Pathophysiological insights and diagnostic challenges associated with blueberry muffin baby (Review)". World Academy of Sciences Journal 8.1 (2026): 2.
Chicago
Gunadi, J. W., Regina, F., Supriady, F. S., Suhendra, A., Pramono, H., Tanuwireja, S."Pathophysiological insights and diagnostic challenges associated with blueberry muffin baby (Review)". World Academy of Sciences Journal 8, no. 1 (2026): 2. https://doi.org/10.3892/wasj.2025.417
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