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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 -
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 -
Postgraduate Medical Journal Jun 2024Our objective in this study is to determine the atypical clinical presentations of cutaneous leishmaniasis (CL) patients diagnosed in Şanlıurfa province.
BACKGROUND
Our objective in this study is to determine the atypical clinical presentations of cutaneous leishmaniasis (CL) patients diagnosed in Şanlıurfa province.
METHODS
This retrospective study included 213 patients with atypical clinical presentations among 1751 patients diagnosed with CL between October 2019 and August 2022 in Şanlıurfa Oriental Boil Diagnosis and Treatment Center located in an endemic region for CL.
RESULTS
We found the prevalence of atypical CL to be 12.1%. The most common atypical lesions were lupoid 21 (9.8%), erysipeloid 16 (7.5%), impetiginous 16 (7.5%), recidivan 15 (7%), eczematous 15 (7%), ecthyma-like 13 (6.1%), pyoderma gangrenous-like 12 (5.6%), and sporotrichoid 12 (5.6%). Other lesions with atypical clinical presentations: chalazion-like, verrucous, dental sinus-like, psoriasiform, zosteriform, lymphoma-like, juvenile xanthogranuloma-like, volcano-like, paronychial, basal cell carcinoma-like, squamous cell carcinoma-like, herpes labialis-like, keratoacanthoma-like, chancriform, annular, lichenoid, mastocitoma-like, keloidal, epidermoid cyst-like, kaposi sarcoma-like, scar leishmaniasis, granulomatous cheilitis-like, mycetoma-like, molluscum contagiosum-like, discoid lupus erythematosus-like, and dermatofibroma-like.
CONCLUSIONS
In addition to the atypical clinical presentations previously reported, we also defined dermatofibroma-like, Kaposi sarcoma-like, dental sinus-like, juvenile xanthogranuloma-like, mastocytoma-like, and epidermoid cyst-like. It should be kept in mind that CL can clinically mimic many infectious, inflammatory, and neoplastic diseases, which should be considered in the differential diagnosis of long-term non-healing lesions, especially in endemic areas. Key message What is already known on this subject: CL is known as the great imitator disease in dermatology. What this study adds: In addition to the atypical clinical presentations previously reported, we also defined dermatofibroma-like, Kaposi sarcoma-like, dental sinus-like, juvenile xanthogranuloma-like, mastocytoma-like, and epidermoid cyst-like. How this study might affect research, practice, or policy: CL can clinically mimic many infectious, inflammatory and neoplastic diseases, which should be considered in the differential diagnosis of long-term non-healing lesions, especially in endemic areas.
PubMed: 38899808
DOI: 10.1093/postmj/qgae075 -
Asian Journal of Surgery Jun 2023
Topics: Humans; Xanthogranuloma, Juvenile; Magnetic Resonance Imaging
PubMed: 36473813
DOI: 10.1016/j.asjsur.2022.11.121 -
The Journal of Pediatrics Dec 2022
Topics: Humans; Xanthogranuloma, Juvenile
PubMed: 36030949
DOI: 10.1016/j.jpeds.2022.08.008 -
Annals of Diagnostic Pathology Jun 2022Juvenile xanthogranuloma (JXG) is the most common type of non-Langerhans cell histiocytosis whose cell of origin, etiology and pathogenesis are not fully understood. We...
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.
RESULTS
A total of 525 patients with 547 lesions diagnosed as JXG were identified with the median age of 4.5 years, a male predominance (M:F ratio 1.3:1) and a predilection for the head and neck region (40.8%). Cutaneous lesions comprised 76.8% cases and another 15.7% presented within soft tissues. The most common non-soft tissue, extracutaneous lesions included the brain (2.6%), and lungs (1.8%). Three basic histopathologic patterns were identified: early classic (EJXG) (14.2%), classic (CJXG) (45.3%), and transitional JXG (TJXG) (40.5%). Multinucleated giant cells, either Touton or non-Touton, were most frequently present in CJXG followed by TJXG. Mitosis was rare (<1/10 high-power field) among different patterns. There was an association among the patterns and lymphocytic infiltrates (P = 0.036), and presence of Touton or non-Touton giant cells (P < 0.001 for both) but not for mitotic count (P = 0.105) or eosinophilic infiltrates (P = 0.465). Additionally, there was a correlation between age groups and presence of non-Touton giant cells (P = 0.012) but not for Touton cells (P = 0.127). We have demonstrated that immunophenotypic expression of the lesion was not associated with age at diagnosis nor morphologic pattern: factor XIIIa 192/204 (94.1%), CD11c 75/77 (97.4%), CD4 82/84 (97.6%), CD68 200/201 (99.5%), CD163 15/15 (100%), CD1a 1/110 (0.9%), S-100 48/152 (31.6%), CD31 15/21 (71.4%), and vimentin 104/105 (99.0%).
CONCLUSION
We have documented in a substantial series of cases of JXG that there is a correlation between one of the three basic histopathologic patterns with age at diagnosis, but with a consistent immunophenotype among the three patterns. Considering sensitivity and specificity rates, we suggest that a combination of CD11c, CD4, CD1a and either CD163 (preferred) or CD68 stains provides more specific diagnostic yield in the differentiation of JXG from other histiocytic disorders. JXG is also discussed in terms of its relationship and distinction from other similar histiocytic disorders in the context of MAPK/ERK pathway mutations.
Topics: Adult; Child, Preschool; Female; Hematologic Neoplasms; Histiocytes; Humans; Male; Retrospective Studies; S100 Proteins; Skin Neoplasms; Xanthogranuloma, Juvenile
PubMed: 35378409
DOI: 10.1016/j.anndiagpath.2022.151940 -
Pediatric Blood & Cancer Apr 2023
Topics: Humans; Proto-Oncogene Proteins B-raf; Gain of Function Mutation; Proto-Oncogene Proteins p21(ras); Xanthogranuloma, Juvenile; Colorectal Neoplasms; Mutation
PubMed: 36317675
DOI: 10.1002/pbc.30060 -
American Journal of Medical Genetics.... Oct 2021Noonan syndrome (NS) is one of the common RASopathies. While the clinical phenotype in NS is variable, it is typically characterized by distinctive craniofacial...
Noonan syndrome (NS) is one of the common RASopathies. While the clinical phenotype in NS is variable, it is typically characterized by distinctive craniofacial features, cardiac defects, reduced growth, bleeding disorders, learning issues, and an increased risk of cancer. Several different genes cause NS, all of which are involved in the Ras/mitogen-activated protein kinase (Ras/MAPK) pathway. Juvenile xanthogranuloma (JXG) is an uncommon, proliferative, self-limited cutaneous disorder that affects young individuals and may be overlooked or misdiagnosed due to its transient nature. A RASopathy that is known to be associated with JXG is neurofibromatosis type 1 (NF1). JXG in NF1 has also been reported in association with a juvenile myelomonocytic leukemia (JMML). As RASopathies, both NS and NF1 have an increased incidence of JMML. We report a 10-month-old female with NS who has a PTPN11 pathogenic variant resulting in a heterozygous SHP2 p.Y62D missense mutation. She was found to have numerous, small, yellow-pink smooth papules that were histopathologically confirmed to be JXG. In understanding the common underlying pathogenetic dysregulation of the Ras/MAPK pathway in both NS and NF1, this report suggests a possible molecular association for why NS individuals may be predisposed to JXG.
Topics: Female; Genetic Predisposition to Disease; Humans; Infant; Leukemia, Myelomonocytic, Juvenile; Mutation, Missense; Neurofibromin 1; Noonan Syndrome; Phenotype; Protein Tyrosine Phosphatase, Non-Receptor Type 11; Xanthogranuloma, Juvenile; ras Proteins
PubMed: 34032360
DOI: 10.1002/ajmg.a.62353 -
Pediatric Investigation Sep 2023
PubMed: 37736360
DOI: 10.1002/ped4.12398 -
La Clinica Terapeutica 2022Neurofibromatosis type 1 (NF1), is a rare genetic disorder that may involve almost every organ system in the body such as cutaneous, ophthalmologic and central and... (Review)
Review
Juvenile xanthogranuloma in neurofibromatosis type 1. Prevalence and possible correlation with lymphoproliferative diseases: experience of a single center and review of the literature.
Neurofibromatosis type 1 (NF1), is a rare genetic disorder that may involve almost every organ system in the body such as cutaneous, ophthalmologic and central and peripheral nervous system. Cutaneous findings are usually the first sign of the disease. In this study, we investigate the real prevalence of xanthogranulomas juvenile (JXG) and possible correlation with lymphoproliferative diseases. This is a retrospective study conducted on a population with NF1 followed by February 1983 to February 2022 at the "Sapienza" University of Rome, Italy. We investigate the real prevalence of juvenile xanthogranuloma in NF1 and possible correlation with lymphoproliferative diseases. JXG was present in 39 cases (3.1%). JXG is more frequent in NF1 than in the general population while the possible association with lymphoproliferative diseases in NF1 remains controversial.
Topics: Humans; Neurofibromatosis 1; Prevalence; Retrospective Studies; Skin; Xanthogranuloma, Juvenile
PubMed: 35857053
DOI: 10.7417/CT.2022.2445