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Blueberry muffin baby syndrome is a condition initially described in 1960 to classify the cutaneous manifestations of newborns with rubella. Subsequently, congenital diseases related to TORCH syndrome and blood dyscrasias have been included under this syndrome. Among the conditions associated with this syndrome is Langerhans Cell Histiocytosis, an uncommon condition with variable involvement of one or more organs, often affecting the skin.

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A Childhood Langerhans Cell Histiocytosis With a Novel BRAFN486_T491delinsK Mutation: Good Response to Conventional Chemotherapy.

J Pediatr Hematol Oncol

January 2025

Department of Pediatrics, West China Second University Hospital, Sichuan University, Sichuan, China.

Langerhans cell histiocytosis (LCH) is characterized genetically by diverse gene mutations of the mitogen-activated protein kinase signaling cascade. BRAFN486_T491delinsK mutation is a rare mutation that involves the β2-αC ring domain, causing activation of the mitogen-activated protein kinase pathway, and is predicted to be resistant to the chemotherapy and BRAFV600E inhibitor in adult LCH cases. Here, we report a childhood LCH case with this novel BRAF mutation and had a good response to conventional chemotherapy.

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Histiocytosis are caused by pathogenic myeloid cells, and can be classified as Langerhans cell histiocytosis (LCH) and non-LCH. Erdheim-Chester disease (ECD) is a non-LCH, characterized by multi-organ involvement, typical imaging findings, and confirmatory histological studies. A case with multi-organ involvement and histological confirmation is presented.

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Article Synopsis
  • Langerhans cell histiocytosis (LCH) is a rare disorder marked by the abnormal buildup of dendritic histiocytes in tissues, often presenting as single- or multi-system diseases, particularly affecting adults.
  • In a reported case, a 46-year-old woman experienced back pain, motor and sensory deficits, and was diagnosed with a compression fracture in the spine, alongside signs of central nervous system and salivary gland involvement.
  • The patient underwent surgical intervention that included decompression and a biopsy, confirming the presence of LCH, highlighting the complexity and rarity of adult-onset LCH with extensive system involvement.
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