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Am J Ophthalmol 2022 May 17. Epub 2022 May 17.

Department of Pathology, Wills Eye Hospital, Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia, PA, USA; Department of Ophthalmology, Wills Eye Hospital, Sidney Kimmel Medical College at Thomas Jefferson University, Philadelphia, PA, USA.

Purpose: Frequent activating mutations in the mitogen-activated protein kinase (MAPK) pathway genes have been identified in histiocytoses. MAPK signaling consistently upregulates Cyclin D1. The goal of this study was to determine whether Cyclin D1 expression by immunohistochemistry is a useful diagnostic marker for periocular histiocytoses and to further characterize their genetic basis. Read More

Arch Bronconeumol 2022 Apr 27. Epub 2022 Apr 27.

Université Paris Cité, FR-75006, INSERM U976 Human Immunology Pathophysiology and Immunotherapy (HIPI), Institut de Recherche Saint-Louis, Paris, France; National Reference Centre for Histiocytoses, Department of Pulmonology, AP-HP, Hôpital Saint-Louis, Paris, France. Electronic address:

Front Pediatr 2022 2;10:823350. Epub 2022 May 2.

Department of Rheumatology Immunology and Allergy, The Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, Hangzhou, China.

Objective: To analyze the etiology of chest diffuse radiological changes (DRC) in children older than 2 years.

Methods: A retrospective study was conducted on a primary cohort of children with DRC underwent high resolution computed tomography (HRCT).

Results: DRC mainly included bronchial wall thickening, interlobular septal thickening, pleural thickening, ground glass opacity, mosaic perfusion, reticular & linear opacities, nodular opacity, and tree-in-bud. Read More

Pathol Int 2022 May 18. Epub 2022 May 18.

Department of Pathology, Faculty of Medicine, Yamagata University, Yamagata, Japan.

Br J Haematol 2022 May 17. Epub 2022 May 17.

Childhood Cancer Research Unit, Department of Women's and Children's Health, Karolinska Institutet, Stockholm, Sweden.

Patients with Langerhans cell histiocytosis (LCH) may develop progressive neurodegeneration in the central nervous system (ND-CNS-LCH). Neurofilament light protein (NFL) in cerebrospinal fluid (CSF) is a promising biomarker to detect and monitor ND-CNS-LCH. We compared paired samples of NFL in plasma (p-NFL) and CSF in 10 patients (19 samples). Read More

Curr Med Imaging 2022 May 16. Epub 2022 May 16.

Hospital of China Medical University, Liaoning, Shenyang 110004, China.

Background: Generalized lymphatic anomaly (GLA) is a rare condition, mainly involving bones, soft tissue, and internal organs. The diagnosis of GLA is often difficult.

Case Presentation: We report a case of GLA in a boy who was initially treated for suspected Langerhans cell histiocytosis and discuss the potential imaging features of GLA. Read More

Front Oncol 2022 25;12:890308. Epub 2022 Apr 25.

Department of Respiratory and Critical Care Medicine, West China Hospital of Sichuan University, Sichuan, China.

Langerhans cell histiocytosis (LCH) is a rare disease characterized by clonal expansion of CD1a+/CD207+ cells in lesions. The most frequent sites involved are bone and, less commonly, lymph nodes, lungs, and skin. The thymus or heart is rarely involved with LCH. Read More

Zhong Nan Da Xue Xue Bao Yi Xue Ban 2022 Mar;47(3):334-343

Department of Respiratory and Critical Care Medicine, Second Xiangya Hospital, Central South University, Changsha 410011, China.

Objectives: Pulmonary Langerhans cell histiocytosis (PLCH) is a clonal disease, characterized by proliferation of Langerhans cells that derived from bone marrow infiltrating the lungs and other organs. Due to the rarity of the disease, the current understanding of the disease is insufficient, often misdiagnosed or missed diagnosis. This study aims to raise clinicians' awareness for this disease via summarizing the clinical characteristics, imaging features, and treatment of PLCH. Read More

Clin Nucl Med 2022 May 11. Epub 2022 May 11.

From the Department of NanFang PET Center, NanFang Hospital, Southern Medical University, Guangzhou, Guangdong Province, China.

Abstract: Widespread cutaneous involvement of Langerhans cell histiocytosis is rare. Here, we report the case of a patient with cutaneous Langerhans cell histiocytosis, which showed a large number of small high 18F-FDG-avid foci all over the body skin on PET/CT, accompanied with involved lymph nodes in bilateral axillas. Read More

Oral Radiol 2022 May 10. Epub 2022 May 10.

State Key Laboratory of Oral Diseases and National Clinical Research Center for Oral Diseases and Department of Pediatric Dentistry, West China Hospital of Stomatology, Sichuan University, No.14, 3rd Section, Ren Min South Road, Chengdu, 610041, Sichuan, China.

Langerhans cell histiocytosis (LCH) is a disease with varied clinic manifestations. The oral symptoms and signs of LCH localized to the jaws are nonspecific, which may lead to misdiagnosis of this disease. The purpose of this paper was to present the case of a 2-year, 4-month-old LCH patient with progressive destruction of jaws caused by the delayed treatment due to the global outbreak of COVID-19. Read More

Pract Neurol 2022 May 9. Epub 2022 May 9.

MRC Centre for Neuromuscular Diseases, Department of Neuromuscular Diseases, UCL Institute of Neurology, London, UK.

The histiocytoses are a group of rare disorders characterised by the accumulation of neoplastic or non-neoplastic activated histiocytes in various tissues. Phenotypes vary widely from cutaneous lesions or lymphadenopathy that regress spontaneously to disseminated disease with poor prognosis. Neurological symptoms can be a presenting feature or appear during the course of disease. Read More

Ophthalmol Retina 2022 May;6(5):376

Advanced Eye Centre, Post Graduate Institute of Medical Education and Research, Chandigarh, India.

JAAD Int 2022 Jun 18;7:137-143. Epub 2022 Apr 18.

Department of Pathology, University of Texas Southwestern Medical Center, Dallas, Texas.

Background: Eponyms are ubiquitous in dermatology; however, their usage trends have not been studied.

Objective: To characterize the usage of eponyms in dermatology from 1880 to 2020.

Methods: Candidate eponyms were collected from a textbook and an online resource. Read More

Cureus 2022 Mar 24;14(3):e23442. Epub 2022 Mar 24.

Medicine, Icahn School of Medicine at Mount Sinai, Queens Hospital Center, New York, USA.

Cystic lung diseases are a heterogeneous group of disorders with varying presentations and pathophysiology. They present as air-filled lung cysts that are prone to rupture and result in spontaneous pneumothoraxes. While pulmonary cysts are not uncommon, cysts presenting later in life with unclear etiology are rare and result in both a diagnostic and therapeutic challenge. Read More

Front Oncol 2022 14;12:835076. Epub 2022 Apr 14.

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

Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis caused by the expression of CD68-positive and CD1a-negative foam tissue cells, which is polar in pediatric patients. The study reports a case of an 8-year-old Chinese boy who presented with polydipsia and polyuria for 4 years, followed by central nervous system symptoms. Magnetic resonance imaging (MRI) showed a large lesion in the lateral ventricle. Read More

Indian J Nucl Med 2022 Jan-Mar;37(1):78-82. Epub 2022 Mar 25.

Department of Pathology, Max Super Speciality Hospital, Shalimarbagh, New Delhi, India.

Langerhans cell histiocytosis (LCH), also known as histiocytosis X, is a rare systemic disorder arising from clonal proliferation of immature CD207-positive (langerin) myeloid dendritic cells (histiocytes) in the skin and visceral organs with a tendency to involve single or multiple organ systems with variable clinical course and prognosis. The incidence of LCH is very less in adult and occurs almost exclusively in children. Genital, perianal, and lung lesions are considered to be rare manifestations of adult LCH. Read More

Am J Med Sci 2022 Apr 23. Epub 2022 Apr 23.

Department of Internal Medicine "A", Rambam Health Care Campus, Haifa 3109601, Israel; The Rappaport Faculty of Medicine and Research Institute, Technion - Israel Institute of Technology, Haifa 3109602, Israel. Electronic address:

Langerhans cell histiocytosis (LCH) is an uncommon clonal proliferation of myeloid progenitor cells, it is especially rare in adults. We present a case of multi-system LCH in a 53-year-old woman, the sole symptom of which was prolonged, non-resolving hip pain for 18 months prior to the diagnosis. Initial evaluation included imaging studies aimed at identifying a presumed local etiology. Read More

Diagnostics (Basel) 2022 Apr 8;12(4). Epub 2022 Apr 8.

Scienze Radiologiche, Department of Medicine and Surgery, Padiglione Barbieri, University of Parma, V. Gramsci 14, 43124 Parma, Italy.

: Fibrosis in pulmonary Langerhans cell histiocytosis (PLCH) histologically comprises a central scar with septal strands and associated airspace enlargement that produce an octopus-like appearance. The purpose of this study was to identify the octopus sign on high-resolution computed tomography (HRCT) images to determine its frequency and distribution across stages of the disease. : Fifty-seven patients with confirmed PLCH were included. Read More

Asian J Surg 2022 Apr 18. Epub 2022 Apr 18.

Department of Pain Management, West China Hospital, Sichuan University, Chengdu, Sichuan Province, 610041, PR China. Electronic address:

Nat Rev Dis Primers 2022 Apr 21;8(1):24. Epub 2022 Apr 21.

Department of Paediatric Endocrinology, Wilhelmina Children's Hospital, University Medical Center, Utrecht, Netherlands.

Hypothalamic syndrome (HS) is a rare disorder caused by disease-related and/or treatment-related injury to the hypothalamus, most commonly associated with rare, non-cancerous parasellar masses, such as craniopharyngiomas, germ cell tumours, gliomas, cysts of Rathke's pouch and Langerhans cell histiocytosis, as well as with genetic neurodevelopmental syndromes, such as Prader-Willi syndrome and septo-optic dysplasia. HS is characterized by intractable weight gain associated with severe morbid obesity, multiple endocrine abnormalities and memory impairment, attention deficit and reduced impulse control as well as increased risk of cardiovascular and metabolic disorders. Currently, there is no cure for this condition but treatments for general obesity are often used in patients with HS, including surgery, medication and counselling. Read More

Appl Immunohistochem Mol Morphol 2022 Apr 18. Epub 2022 Apr 18.

Departments ofPathology.

There are several activated forms of macrophages: 2 main groups are designated M1 and M2. While M1 macrophages have proinflammatory, bactericidal, and phagocytic functions and are the dominant phenotype observed in the early stages of inflammation, M2 macrophages are involved in constructive processes such as tissue repair; they play a role in wound healing and are required for revascularization and re-epithelialization. Juvenile xanthogranuloma (JXG) is the most common non-Langerhans cell histiocytosis. Read More

Pediatr Dev Pathol 2022 Apr 14:10935266221078501. Epub 2022 Apr 14.

Department of Pathology, 54473McGill University, Montreal, QC, Canada.

Congenital Langerhans cell histiocytosis (LCH) (formerly called Letterer-Siwe disease) is characterized by a clonal proliferation of Langerhans cells occurring in children at birth and manifests typically with multifocal cutaneous lesions, hepatosplenomegaly, lymphadenopathy, pulmonary lesions, and destructive osteolytic bone lesions. We present a case of LCH involving multiple systems high-risk organs (LCH MS-RO+), in a 32-week stillborn from a 20-year-old G2A1. The fetus was mildly hydropic and pale. Read More

Orphanet J Rare Dis 2022 04 12;17(1):164. Epub 2022 Apr 12.

Department of Rheumatology and Clinical Immunology, Peking Union Medical College, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, National Clinical Research Center for Dermatologic and Immunologic Diseases, Ministry of Science& Technology, State Key Laboratory of Complex Severe and Rare Diseases, Key Laboratory of Rheumatology and Clinical Immunology, Ministry of Education, Beijing, 100730, China.

Objective: To investigate the clinical features of multicentric reticulohistiocytosis (MRH).

Methods: The clinical manifestations, laboratory examination results and histologic characteristics of eleven patients with MRH were collected and compared with those of 33 patients with rheumatoid arthritis.

Results: In total, 72. Read More

Transplant Proc 2022 Apr 8. Epub 2022 Apr 8.

Department of Cardiac Surgery and Vascular Surgery, Medical University of Gdańsk, Gdańsk, Poland.

Langerhans cell histiocytosis (LCH) is a rare inflammatory disorder of myeloid dendritic cells with mutations involving KRAS, BRAF and/or NRAS, and MAP2K1 genes. We describe the case of a 58-year-old female previous smoker with multifocal LCH involving the lungs, pituitary gland and mandibular bone. Initial treatment with 6 cycles of cladribine showed improvement in her extrapulmonary lesions, however, her lung disease progressed and after qualification and assessment tests she underwent uncomplicated double lung transplant surgery and was discharged home. Read More

Cancer Diagn Progn 2022 Mar-Apr;2(2):258-262. Epub 2022 Mar 3.

Department of Radiation Oncology, Proton Medical Research Center, University of Tsukuba Hospital, Tsukuba, Japan.

Background: Langerhans cell histiocytosis (LCH) is a rare disease, especially in adults. It is often associated with non-fatal bone and skin lesions and has relatively good radiosensitivity. In contrast, brain and lymph node metastases from LCH lesions are considered to be less sensitive to radiotherapy. Read More

Oral Oncol 2022 May 5;128:105831. Epub 2022 Apr 5.

Department of Oral Diagnosis, Piracicaba Dental School, University of Campinas (UNICAMP), Piracicaba, Brazil; Private Pathology Service, Natal, Brazil. Electronic address:

Langerhans cell histiocytosis (LCH) is an uncommon myeloid neoplasm characterized by clonal neoplastic proliferation of Langerhans-type dendritic cells associated with a reactive inflammatory infiltrate composed predominantly of lymphocytes and eosinophils. Only three cases of LCH mimicking periapical lesions have been reported in the English-language literature to date. Herein, we report a rare case of LCH involving the mandible of a 45-years-old woman mimicking microscopically and radiographically a residual cyst. Read More

J Stomatol Oral Maxillofac Surg 2022 Apr 6. Epub 2022 Apr 6.

Department of Oral & Maxillofacial Surgery, Faculty of Oral and Dental Medicine, Cairo University, Egypt.

Juvenile xanthogranuloma, a form of non-Langerhans cell histiocytosis can be defined as the proliferation of cells with macrophage like characteristics. It has been described as a benign, asymptomatic and common self-healing disorder of non-Langerhans cell histiocytosis (LCH), affecting mostly infants, children and rarely adults. We have documented a case of a 40 year old male who presented to us with extensive insidious papulonodulous growth over the face. Read More

Orphanet J Rare Dis 2022 04 4;17(1):151. Epub 2022 Apr 4.

Hematology Center, Beijing Key Laboratory of Pediatric Hematology Oncology; National Key Discipline of Pediatrics, Capital Medical University; Key Laboratory of Major Diseases in Children, Ministry of Education; Beijing Children's Hospital, Capital Medical University; National Center for Children's Health, Beijing, China.

Background: Langerhans cell histiocytosis (LCH) is a rare myeloid neoplasm. A few LCH patients had Macrophage activation syndrome-hemophagocytic lymphohistiocytosis (MAS-HLH), a life-threatening, hyper-inflammatory syndrome. We retrospectively described the clinical-biological characteristics of a series of 28 pediatric LCH patients with MAS-HLH in a single center. Read More

Ann Diagn Pathol 2022 Jun 30;58:151940. Epub 2022 Mar 30.

Lauren V. Ackerman Laboratory of Surgical Pathology, Barnes Jewish/St. Louis Children's Hospitals, Washington University Medical Center, St. Louis, MO, USA. Electronic address:

Background: Juvenile xanthogranuloma (JXG) is the most common type of non-Langerhans cell histiocytosis whose cell of origin, etiology and pathogenesis are not fully understood. We aimed to provide an update on histopathologic and immunophenotypic profile of this well-characterized entity whose relationship to the other histiocytoses has received renewed attention in light of recent molecular genetic studies.

Materials And Methods: A retrospective review of all the cases with the pathologic diagnosis of "xanthogranuloma" was performed on our archives from 1989 to 2019. Read More

JAAD Case Rep 2022 Apr 2;22:110-113. Epub 2022 Feb 2.

Department of Dermatology, Medical College of Wisconsin, Milwaukee, Wisconsin.