Sarcoidosis is a chronic multisystemic granulomatous disease of unknown origin. Generalised eruptive histiocytosis is a rare, benign, self-healing, non-Langerhans' cell histiocytosis (non-LCH). We report the case of an 8-year-old girl with sarcoidosis who was misdiagnosed as non-LCH. She was treated with oral corticosteroids, methotrexate and adalimumab, but there was insufficient control of ocular disease. The introduction of infliximab achieved a control of the uveitis and enabled the corticosteroid dose to be tapered. In some cases of sarcoidosis the lack of well-organised granuloma formation at the beginning of the disease, and the presence of prominent giant cells may suggest alternative diagnoses, such as non-LCH. Although the experience of tumour necrosis factor-α antagonists use in children with sarcoidosis is limited, these drugs may be helpful for those patients experiencing a severe and refractory disease.
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http://dx.doi.org/10.1016/j.anpedi.2012.01.024 | DOI Listing |
JAAD Case Rep
February 2025
Dermatology Department, NYC Health + Hospital/Metropolitan, New York, New York.
Pediatr Dermatol
January 2025
Department of Dermatology, University of new Mexico School of Medicine, Albuquerque, New Mexico, USA.
Juvenile xanthogranuloma (JXG) is the most common type of non-Langerhans cell histiocytosis and is characterized by a benign proliferation of dermal dendrocytes. We report two children diagnosed with JXG with reflectance confocal microscopy (RCM), a noninvasive imaging technology that allows for multi-layer visualization of the skin. This report demonstrates the emerging role of RCM as a painless diagnostic aid for JXG and other cutaneous diseases in children.
View Article and Find Full Text PDFRheumatology (Oxford)
January 2025
Unit of Immunology, Rheumatology, Allergy and Rare Diseases, IRCCS San Raffaele Hospital, Vita-Salute San Raffaele University, Milan, Italy.
Objective: Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis that exhibits a wide spectrum of clinical manifestations. The recent identification of activating mutations in the MAPK-ERK pathway in patients with ECD has led to the introduction of targeted therapies. The most commonly used targeted therapies are BRAF- and MEK-inhibitors, which are highly effective but also carry significant toxicity.
View Article and Find Full Text PDFDis Mon
January 2025
Department of Pharmaceutical Sciences, Babasaheb Bhimrao Ambedkar University, Vidya Vihar, Raebareli Road, Lucknow-226025, (U.P.), India. Electronic address:
Erdheim-Chester disease (ECD) is an extremely rare non-Langerhans cell disorder that is believed to include both inflammatory and neoplastic characteristics. It is caused due to genetic mutations in proto-oncogenes like BRAF and MEK, while immunological pathways have an essential role in the onset and progression of the disease. Despite its rarity, ECD poses significant diagnostic and therapeutic challenges due to its heterogeneous clinical presentation and limited understanding of its underlying pathophysiology.
View Article and Find Full Text PDFInt J Dermatol
January 2025
Department of Dermatology, American University of Beirut Medical Center, Beirut, Lebanon.
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