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Congenital leukemia - Skin
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Congenital leukemia - Skin

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Contributors: Craig N. Burkhart MD, Dean Morrell MD, Lowell A. Goldsmith MD, MPH, Nancy Esterly MD
Other Resources UpToDate PubMed


Congenital leukemia refers to leukemia that presents at birth or within the first month of life. However, because numerous cases of leukemia appearing later in infancy have been linked to chromosomal rearrangements that occurred in utero, most, if not all, cases of infant leukemia are now thought to be congenital in origin. Leukemias in the neonate and infant have different clinical and biologic features than those of older children. Acute myelocytic leukemia (AML) is more common than acute lymphocytic leukemia (ALL) in the neonate, in contradistinction to older children; acute megakaryocytic leukemia (AMKL) and acute erythroblastic leukemia occur less commonly. There is an equal incidence among males and females, though females with all have a markedly worse prognosis.

Maternal alcohol consumption, high birth weight, and maternal consumption of DNA topoisomerase-II-inhibitor-containing foods such as onions, apples, and canned beans have been associated with increased risk of infant leukemia, particularly AML.

The characteristic clinical presentation of all subtypes in the neonatal period is leukemia cutis and hepatosplenomegaly, with a majority of patients also demonstrating hyperleukocytosis and evidence of meningeal involvement. When leukemias present later in infancy, signs and symptoms are often less specific and include low-grade fever, pallor, lethargy, hepatosplenomegaly, bleeding diathesis, diarrhea, or failure to thrive. The prognosis of neonatal/infant leukemia is generally bleak, with or without chemotherapy.


C95.90 – Leukemia, unspecified not having achieved remission

93143009 – Leukemia, disease

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Differential Diagnosis & Pitfalls

  • Transient myeloproliferative disorder (TMD) (synonyms: transient leukemia, transient abnormal myelopoiesis, transient congenital leukemia) – This condition is universally associated with Down syndrome. It is clinically and morphologically indistinguishable from leukemia, except that the disorder spontaneously remits within the first months of life. TMD is associated with significant morbidity, and as many as 30% of affected individuals will develop a subsequent leukemia, most commonly AMKL.
  • Congenital infections due to toxoplasmosis, rubella, cytomegalovirus, herpes simplex virus (HSV), or syphilis – These infections may show dermal erythropoiesis, leukocytosis, and circulating immature leukocytes but are differentiated from leukemia on the basis of normal bone marrow examination and immunohistochemical findings, positive serologies for specific infectious agents, as well as clinical findings such as intrauterine growth retardation, microcephaly, and hepatitis.
  • Hemolytic disease of the newborn (Rh and ABO incompatibility) – When severe, affected neonates show hepatosplenomegaly, dermal erythropoiesis, numerous erythroblasts on peripheral smear, and even thrombocytopenia. Demonstration of Rh or ABO incompatibility with a direct antibody test or indirect Coombs test is necessary.
  • Neuroblastoma, stage IV-A – This condition may show hepatosplenomegaly and cutaneous nodules, but peripheral counts are typically normal and bone marrow aspiration shows characteristic neuroblastoma cells.
  • Congenital HIV
  • Congenital Langerhans cell histiocytosis
  • Juvenile xanthogranuloma
  • Hemangiomatosis

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Last Updated: 05/20/2015
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Congenital leukemia - Skin
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Congenital leukemia : Hepatomegaly, Blue color, Splenomegaly, WBC elevated, Firm nodules
Clinical image of Congenital leukemia
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