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Skeletal Radiology Oct 2021The non-Langerhans cell histiocytoses (N-LCH) represent a group of rare diseases with different clinical presentations and imaging features to classical LCH. While there... (Review)
Review
The non-Langerhans cell histiocytoses (N-LCH) represent a group of rare diseases with different clinical presentations and imaging features to classical LCH. While there is a long list of entities, only few present with musculoskeletal soft tissue and osseous manifestations alongside the more commonly reported systemic findings. Erdheim-Chester disease (ECD) is typically seen in adults as bilateral and symmetrical long bone osteosclerosis. Rosai-Dorfman disease (RDD) is more commonly seen in children and young adults with bone involvement usually being a manifestation of extra-nodal disease. Primary osseous RDD is very rare, with both displaying rather non-specific imaging features of an expansile lucent lesion with or without an extra-osseous component. Juvenile xanthogranuloma (JXG) is a benign disorder typically seen in very young children. The most common imaging manifestation is a dermal or sub-dermal soft tissue mass. This article reviews the musculoskeletal imaging appearances of the commoner N-LCH.
Topics: Child, Preschool; Diagnostic Imaging; Erdheim-Chester Disease; Histiocytosis, Langerhans-Cell; Histiocytosis, Sinus; Humans; Radionuclide Imaging
PubMed: 33787962
DOI: 10.1007/s00256-021-03765-0 -
International Ophthalmology Jun 2024Histiocytosis is one of the most challenging diseases in medical practice. Because of the broad spectrum of clinical manifestations, systemic involvements, unknown... (Review)
Review
PURPOSE
Histiocytosis is one of the most challenging diseases in medical practice. Because of the broad spectrum of clinical manifestations, systemic involvements, unknown etiology, and complex management, different types of histiocytosis are still a big question mark for us. Orbital histiocytosis is characterized by the abnormal proliferation of histiocytes in orbital tissues. It could affect the orbit, eyelid, conjunctiva, and uveal tract. Orbital histiocytosis can cause limited eye movement, proptosis, decreased visual acuity, and epiphora. In this study, we review the novel findings regarding the pathophysiology, diagnosis, and treatment of different types of histiocytosis, focusing on their orbital manifestations.
METHOD
This review was performed based on a search of the PubMed, Scopus, and Embase databases or relevant published papers regarding orbital histiocytosis on October 9th, 2023. No time restriction was proposed, and articles were excluded if they were not referenced in English.
RESULTS
391 articles were screened, most of them being case reports. The pathophysiology of histiocytosis is still unclear. However, different mutations are found to be prevalent in most of the patients. The diagnostic path can be different based on various factors such as age, lesion site, type of histiocytosis, and the stage of the disease. Some modalities, such as corticosteroids and surgery, are used widely for treatment. On the other hand, based on some specific etiological factors for each type, alternative treatments have been proposed.
CONCLUSION
Significant progress has been made in the detection of somatic molecular changes. Many case studies describe various disease patterns influencing the biological perspectives on different types of histiocytosis. It is necessary to continue investigating and clustering data from a broad range of patients with histiocytosis in children and adults to define the best ways to diagnose and treat these patients.
Topics: Humans; Histiocytosis; Orbital Diseases; Histiocytes
PubMed: 38902584
DOI: 10.1007/s10792-024-03179-6 -
Paediatric Drugs Jul 2023Histiocytic disorders are rare diseases defined by the clonal accumulation of a macrophage or dendritic cell origin. These disorders include Langerhans cell... (Review)
Review
Histiocytic disorders are rare diseases defined by the clonal accumulation of a macrophage or dendritic cell origin. These disorders include Langerhans cell histiocytosis, Erdheim-Chester disease, juvenile xanthogranuloma, malignant histiocytoses, and Rosai-Dorfman-Destombes disease. These histiocytic disorders are a diverse group of disorders with different presentations, management, and prognosis. This review focuses on these histiocytic disorders and the role of pathological ERK signaling due to somatic mutations in the mitogen--activated protein kinase (MAPK) pathway. Over the last decade, there has been growing awareness of the MAPK pathway being a key driver in many histiocytic disorders, which has led to successful treatment with targeted therapies, in particular, BRAF inhibitors and MEK inhibitors.
Topics: Humans; Erdheim-Chester Disease; Histiocytosis, Langerhans-Cell; Histiocytosis, Sinus; Mutation; Prognosis; Protein Kinase Inhibitors
PubMed: 37204611
DOI: 10.1007/s40272-023-00569-8 -
The American Journal of Dermatopathology Jul 2022Juvenile xanthogranuloma is a group C and L non-Langerhans cell histiocytosis, and its cell of origin is still debatable. The expression of CD11c, a more recently...
Juvenile xanthogranuloma is a group C and L non-Langerhans cell histiocytosis, and its cell of origin is still debatable. The expression of CD11c, a more recently described macrophage marker, and CD4 have not been studied comprehensively. This study aimed to expand immunophenotypic profile and hence our understanding of the origin of these lesions. The surgical pathology archive was searched for the cases with the pathologic diagnosis of "xanthogranuloma" from 1995 to 2019. Immunohistochemical (IHC) stains were performed for factor XIIIa, CD11c, and CD4. Morphologically, each lesion was classified into early classic, classic, or transitional subtypes. Seventy-seven cases were included with the median age of 7.8 years (male:female 1.3:1). Uniform positivity was noticed for CD4 (n = 77), CD68 (n = 37), CD163 (n = 5), and vimentin (n = 4) stains. Other stains included CD11c 75/77 (97.4%), factor XIIIa 71/76 (93.4%), S-100 protein 4/23 (17.4%), and CD1a 0/18 (0%). Despite insignificant association between morphologic subtype and main studied IHC stains, factor XIIIa reactivity was highest in transitional lesions and CD11c showed higher reactivity in early classic lesions. CD11c and CD4 are sensitive markers and showed promising results in the diagnosis of juvenile xanthogranuloma compared with factor XIIIa. Despite different reactivity of factor XIIIa and CD11c in various morphologic subtypes, such association was statistically insignificant.
Topics: Biomarkers; Child; Factor XIIIa; Female; Histiocytosis, Non-Langerhans-Cell; Humans; Male; S100 Proteins; Xanthogranuloma, Juvenile
PubMed: 35315372
DOI: 10.1097/DAD.0000000000002185 -
Virchows Archiv : An International... Jul 2023Diagnosis of histiocytosis can be difficult and one of the biggest challenges is to distinguish between reactive and neoplastic histiocytes on histology alone. Recently,...
Diagnosis of histiocytosis can be difficult and one of the biggest challenges is to distinguish between reactive and neoplastic histiocytes on histology alone. Recently, OCT2 nuclear expression was reported in Rosai-Dorfman disease (RDD). Our purpose was to expand the testing of OCT2 on a broader variety of sporadic or H syndrome-related histiocytoses. Cases of histiocytoses were retrieved from the files of Ambroise Paré Pathology Department. All slides and molecular analyses were reviewed, and staining was completed with immunohistochemistry for OCT2. A total of 156 samples from different localizations were tested. Among sporadic cases, 52 patients had RDD, and 10 patients had mixed histiocytosis combining RDD with Erdheim Chester disease (ECD, n = 8), Langerhans cell histiocytosis (LCH, n = 2) or juvenile xanthogranuloma (JXG, n = 1). All these patients were positive for OCT2 in RDD characteristic histiocytes. Twenty-three patients had ECD and all but two (91% - 21/23) were negative for OCT2. By contrast, OCT2 was positive in 11/27 (41%) LCH and 6/16 (38%) JXG. Among the 10 samples of H syndrome-associated histiocytosis, 3 had typical RDD histology, 6 had unclassified histiocytosis, and one had mixed RDD-LCH; all were positive for OCT2. On 16 samples of granulomatous lymphadenitis, OCT2 was negative in epithelioid histiocytes. Our study shows that OCT2 has a sensitivity of 100% for RDD cases and mixed histiocytoses with an RDD component. It is negative in 92% of ECD but expressed in at least 38% of LCH, JXG, and C group histiocytoses. Finally, OCT2 is positive in all H syndrome-related histiocytoses, independent of their histology.
Topics: Humans; Histiocytosis, Langerhans-Cell; Histiocytosis, Sinus; Erdheim-Chester Disease; Histiocytes
PubMed: 36754897
DOI: 10.1007/s00428-023-03508-7 -
Dermatologic Therapy Feb 2022Juvenile xanthogranuloma (JXG) is the most common non-Langerhans cell histiocytic disorder. It can rarely be associated with systemic involvement. There is a paucity of...
Juvenile xanthogranuloma (JXG) is the most common non-Langerhans cell histiocytic disorder. It can rarely be associated with systemic involvement. There is a paucity of literature on JXG in Asian children. We aim to describe the epidemiology, clinical features, systemic associations, histological features and outcome of a cohort of Asian children with JXG, and review the literature on the condition. We retrospectively reviewed the demographic, clinical and histological data of patients less than 16 years of age, diagnosed with JXG at our tertiary pediatric hospital between January 2002 and April 2019. A total of 147 children with JXG were identified, with a slight male preponderance of 53.1%. The median age of the onset was 15.5 months, with 69.4% presenting before 2 years of age. There was no racial predilection. The most frequently involved site was the head and neck region (44.2%). The majority of patients (76.2%) presented with a solitary lesion. Spontaneous resolution was documented in 57.7% of our patients with mean duration to resolution of 18.8 months. The proportion and speed of resolution did not differ in children with single or multiple lesions. No ophthalmologic complications were detected in our study cohort. JXG in children is generally limited to the skin and is rarely associated with systemic involvement, including the eye. Unless clinically indicated, the results from our study does not support routine screening for juvenile myelomonocytic leukemia, eye or systemic complications, even in the setting of multiple cutaneous JXGs.
Topics: Asian People; Child; Histiocytes; Humans; Infant; Male; Retrospective Studies; Skin; Xanthogranuloma, Juvenile
PubMed: 34820973
DOI: 10.1111/dth.15224 -
Pediatric Dermatology Jul 2020Juvenile xanthogranuloma (JXG) is a non-Langerhans cell histiocytosis characterized by yellowish papules in the skin. JXGs most often occur in infancy or early childhood... (Review)
Review
BACKGROUND
Juvenile xanthogranuloma (JXG) is a non-Langerhans cell histiocytosis characterized by yellowish papules in the skin. JXGs most often occur in infancy or early childhood and are typically solitary and asymptomatic, often regressing after several years. While JXGs predominantly occur on the skin, extracutaneous JXGs also exist.
AIMS
In this paper, we review the literature on single, multiple, and visceral JXGs and provide recommendations on monitoring and work-up.
MATERIALS & METHODS
A literature review was conducted with the PubMed database using selective search terms for single, multiple, ocular, and visceral lesions as well as NF1/JMML.
RESULTS / DISCUSSION
JXG is typically a self-limited disorder if lesions are cutaneous and singular. While rare, JXGs may manifest as multiple and extracutaneous lesions. Further screening and referral to specialists may be warranted in these cases based on age and extent of involvement.
CONCLUSION
Our review demonstrates common presentations of single, multiple, and extracutaneous lesions in addition to those that occur with NF1 and JMML. We suggest patients be evaluated on a case-by-case basis by a dermatologist and referred to specialists as appropriate.
Topics: Child, Preschool; Histiocytosis, Non-Langerhans-Cell; Humans; Infant; Skin; Xanthogranuloma, Juvenile
PubMed: 32468628
DOI: 10.1111/pde.14174 -
Pediatric Dermatology May 2018Cutaneous juvenile xanthogranuloma is an uncommon, usually benign disease affecting infants and young children. Ocular and other systemic involvement have been reported,... (Review)
Review
BACKGROUND/OBJECTIVES
Cutaneous juvenile xanthogranuloma is an uncommon, usually benign disease affecting infants and young children. Ocular and other systemic involvement have been reported, but their incidence is unclear, and the utility of routine screening is not well established. Our aim was to characterize the risk of ocular and systemic complications in children with cutaneous juvenile xanthogranuloma.
METHODS
In this retrospective study, we reviewed the medical charts of children with cutaneous juvenile xanthogranuloma seen at Ann and Robert H. Lurie Children's Hospital, Chicago, Illinois, between January 2000 and December 2015. A comprehensive literature review was also performed.
RESULTS
Of 338 children with cutaneous juvenile xanthogranuloma, 76 (median age 6 months, 51% female) met inclusion criteria. The most frequently involved site was the head and neck region (40%). In 39 patients (51%), there was a single lesion. Multiple lesions (>5) were evident in 20 patients (26%). Most cutaneous juvenile xanthogranulomas were micronodular (77%). None of the patients had ocular involvement. One patient had multiple asymptomatic hepatic nodules on imaging that regressed spontaneously within several months. Literature review of pediatric cutaneous juvenile xanthogranuloma series, including our cohort, revealed that the incidence of ocular manifestations is 0.24% (7/2949) and of systemic manifestations is 0.75% (22/2949).
CONCLUSION
Cutaneous juvenile xanthogranulomas are generally limited to the skin. Because eye involvement is rare, a routine eye examination is of low yield and probably not warranted in children with no ocular or visual symptoms. New recommendations for systemic screening could not be drawn from this study.
Topics: Adolescent; Child; Child, Preschool; Eye; Female; Humans; Illinois; Infant; Infant, Newborn; Male; Retrospective Studies; Risk; Skin; Xanthogranuloma, Juvenile
PubMed: 29488239
DOI: 10.1111/pde.13437 -
Pediatric and Developmental Pathology :... 2018This article focuses on cutaneous hematopoietic neoplasms that are more likely to be encountered in the pediatric age-group and includes both lymphoproliferative and... (Review)
Review
This article focuses on cutaneous hematopoietic neoplasms that are more likely to be encountered in the pediatric age-group and includes both lymphoproliferative and histiocytic disorders. The cutaneous hematologic disorders in children have a different epidemiologic profile to what is seen during adulthood. Although mycosis fungoides is the most frequent form of cutaneous lymphoma in adults, it is very rare in children. Because lymphoblastic leukemias and lymphomas are more frequent in the pediatric setting, cutaneous leukemic infiltrates are relatively common in this age-group. Similarly, histiocytic disorders are more common in children, particularly Langerhans cell histiocytosis and juvenile xanthogranuloma. Notably, the histiocytic disorders have undergone significant modifications on their nomenclature in the basis of the molecular characteristics that are present in them. A summary of the most frequent cutaneous hematopoietic disorders in children will be discussed further in this review.
Topics: Child; Diagnosis, Differential; Hematologic Neoplasms; Histiocytic Disorders, Malignant; Humans; Lymphoproliferative Disorders; Skin Neoplasms
PubMed: 29607757
DOI: 10.1177/1093526617750947 -
Asian Journal of Surgery Jun 2023
Topics: Humans; Xanthogranuloma, Juvenile; Magnetic Resonance Imaging
PubMed: 36473813
DOI: 10.1016/j.asjsur.2022.11.121