Scholarly Review of Case Studies: Disparities in the Clinical Presentation of Skin Lesions and the Severity of the Etiology in Pediatric Patients

Date

2021

Authors

Gartstein, Evelyn

ORCID

0000-0001-7740-559X (Gartstein, Evelyn)

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Abstract

Background: Skin lesions in the pediatric population derive from a variety of etiologies, such as infection, atopic diseases, and oncological disorders. Many conditions can present with cutaneous manifestations with similar features, although some underlying causes have malignant origins and warrant rapid confirmation of the diagnosis. Acute leukemia is the most common cancer in childhood. Infants can frequently present with leukemia cutis, prior to bone marrow invasion; however, genetic analysis of the presenting skin lesions can confirm features that aid in identifying the diagnosis and initiating proper treatment. Case Presentation: A 5-month-old girl presents with a diffuse cutaneous eruption and a solitary plaque and physical exam revealed no concerning abnormalities, such as hepatosplenomegaly or lymphadenopathy, and the complete blood count was normal. The conclusion that the presenting lesions were related was made and the initial diagnosis was urticaria pigmentosa, based on the unremarkable exam and lab features. However, a pathological exam and genetic analysis of the skin lesions revealed a diagnosis of AML with a translocation of the MLL gene at chromosome 11q23. The bone marrow aspirate did not meet the full criteria for an AML diagnosis. Although the patient initially presented healthily and her bone marrow showed rare blast cells, the patient suffered from progressive cutaneous and CNS involvement and passed away. Conclusions: The features of this case, through scholarly review, illustrate the importance of thorough diagnostic testing for cutaneous conditions in young patients, as well as retaining malignant causes within one's differential.

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