A neonate with Langerhans cell histiocytosis presenting as blueberry muffin rash: Case report and review of the literature

In our case report, we discuss a 1-day-old boy presenting with blueberry muffin syndrome diagnosed with Langerhans cell histiocytosis. The diagnosis complicated by an initial difficult-to-interpret biopsy showing only a hint of perifollicular CD1a-positive cells; however, given our team’s strong cli...

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Main Authors: Janelle Cyr, Annie Langley, Dina El Demellawy, Michele Ramien
Format: Article
Language:English
Published: SAGE Publishing 2020-05-01
Series:SAGE Open Medical Case Reports
Online Access:https://doi.org/10.1177/2050313X20919616
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author Janelle Cyr
Annie Langley
Dina El Demellawy
Michele Ramien
author_facet Janelle Cyr
Annie Langley
Dina El Demellawy
Michele Ramien
author_sort Janelle Cyr
collection DOAJ
description In our case report, we discuss a 1-day-old boy presenting with blueberry muffin syndrome diagnosed with Langerhans cell histiocytosis. The diagnosis complicated by an initial difficult-to-interpret biopsy showing only a hint of perifollicular CD1a-positive cells; however, given our team’s strong clinical suspicion of Langerhans cell histiocytosis, a second biopsy of a more mature lesion was done and showed typical histopathology. This case introduces the possibility of perifollicular Langerhans cells early in this condition, demonstrates the importance of appropriate biopsy site selection, and highlights the importance of maintaining a high degree of suspicion when there is poor clinicopathologic correlation. Our case report contains a comprehensive table which reviews the systemic and cutaneous clinical features, as well as the laboratory, pathology, and imaging findings for the differential diagnoses of blueberry muffin baby.
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spelling doaj.art-febb5b39fc994fd59e60bfddda1320af2022-12-21T19:02:58ZengSAGE PublishingSAGE Open Medical Case Reports2050-313X2020-05-01810.1177/2050313X20919616A neonate with Langerhans cell histiocytosis presenting as blueberry muffin rash: Case report and review of the literatureJanelle Cyr0Annie Langley1Dina El Demellawy2Michele Ramien3Division of Dermatology, University of Toronto, Ottawa, ON, CanadaDivision of Dermatology, The Ottawa Hospital, Ottawa, ON, CanadaDivision of Pathology, Children’s Hospital of Eastern Ontario, Ottawa, ON, CanadaDivision of Rheumatology and Dermatology, Children’s Hospital of Eastern Ontario, Ottawa, ON, CanadaIn our case report, we discuss a 1-day-old boy presenting with blueberry muffin syndrome diagnosed with Langerhans cell histiocytosis. The diagnosis complicated by an initial difficult-to-interpret biopsy showing only a hint of perifollicular CD1a-positive cells; however, given our team’s strong clinical suspicion of Langerhans cell histiocytosis, a second biopsy of a more mature lesion was done and showed typical histopathology. This case introduces the possibility of perifollicular Langerhans cells early in this condition, demonstrates the importance of appropriate biopsy site selection, and highlights the importance of maintaining a high degree of suspicion when there is poor clinicopathologic correlation. Our case report contains a comprehensive table which reviews the systemic and cutaneous clinical features, as well as the laboratory, pathology, and imaging findings for the differential diagnoses of blueberry muffin baby.https://doi.org/10.1177/2050313X20919616
spellingShingle Janelle Cyr
Annie Langley
Dina El Demellawy
Michele Ramien
A neonate with Langerhans cell histiocytosis presenting as blueberry muffin rash: Case report and review of the literature
SAGE Open Medical Case Reports
title A neonate with Langerhans cell histiocytosis presenting as blueberry muffin rash: Case report and review of the literature
title_full A neonate with Langerhans cell histiocytosis presenting as blueberry muffin rash: Case report and review of the literature
title_fullStr A neonate with Langerhans cell histiocytosis presenting as blueberry muffin rash: Case report and review of the literature
title_full_unstemmed A neonate with Langerhans cell histiocytosis presenting as blueberry muffin rash: Case report and review of the literature
title_short A neonate with Langerhans cell histiocytosis presenting as blueberry muffin rash: Case report and review of the literature
title_sort neonate with langerhans cell histiocytosis presenting as blueberry muffin rash case report and review of the literature
url https://doi.org/10.1177/2050313X20919616
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