Challenges in diagnosis and management of Langerhans Cell Histiocytosis in a 13-month-old child: a rare case report

Abstract

Introduction: Langerhans Cell Histiocytosis is a rare condition characterized by the proliferation of abnormal Langerhans cells in the skin and mucosa. It is mostly seen in children between 1 and 3 years old. Although the skeleton accounts for 80% of infiltration and the skin accounts for 33%, it can affect other organs as well. Case presentation: The authors report a case of a 13-month-old male with fever, rash, and nontender swelling in the frontal, temporal, and infraorbital regions. Imaging showed diffusion restriction in the frontal, left parietal, right sphenoid, right temporal bones, and right maxillary antrum. Biopsy and immunohistochemistry from the right maxilla confirmed the diagnosis. The patient was treated with vinblastine and prednisolone for 3 months, resulting in reduced swelling and no fever on follow-up. Discussion: Langerhans Cell Histiocytosis (LCH), formerly Histiocytosis X, has diverse clinical manifestations and is classified as localized or disseminated based on organ involvement. It is associated with viral infections, communication defects, and cytokine processes, with BRAF mutations and the MAPK/ERK pathway implicated. Diagnosis involves clinical, radiological, histological, and immunophenotypic methods, including identifying Birbeck granules in Langerin-positive cells. Treatment varies by disease extent, with vinblastine and prednisolone for children with multisystem disease and tailored approaches for adults. Conclusion: Despite atypical presentation, thorough evaluation confirmed Langerhans Cell Histiocytosis in a pediatric patient. This highlights the necessity of considering Langerhans Cell Histiocytosis in differential diagnoses for persistent cutaneous lesions and bony swellings. Prompt detection and timely action are essential for successful treatment and better results.