Langerhans cell histiocytosis presenting as a blueberry muffin rash

Abstract

Langerhans cells, often referred to as the “macrophages of the skin”, are dendritic cells that normally reside in the epidermis and papillary dermis. Just like macrophages, they function as antigen-presenting cells that activate naive T cells. Certain mutations such as those involving the BRAF gene can cause unopposed production of Langerhans Cells, which is known as Langerhans Cell Histiocytosis (LCH). LCH triggers an inflammatory immune response that causes systemic manifestations such as fever and fatigue, as well as other manifestations depending on the affected organs. The pathogenesis behind LCH remains poorly understood. It is still unknown whether it is a neoplastic process or a reactive cancer-mimicking illness. Diagnosis of LCH is confirmed by biopsy, and treatment is largely dependent on the extent and severity of the disease. Common treatments include corticosteroids, excision, radiation, and chemotherapy. We present a case of a 1-year-old Saudi male with LCH.

Keywords

• langerhans cell histiocytosis
• blueberry muffin rash
• histiocytosis
• BRAF V600E mutation