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The Journal of Pediatrics Dec 2022
Topics: Humans; Xanthogranuloma, Juvenile
PubMed: 36030949
DOI: 10.1016/j.jpeds.2022.08.008 -
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 -
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 -
The British Journal of Radiology Dec 2016The objectives of this article were: (1) to review common and rare manifestations of systemic and pulmonary Langerhans cell histiocytosis, Rosai-Dorfman disease,... (Review)
Review
The objectives of this article were: (1) to review common and rare manifestations of systemic and pulmonary Langerhans cell histiocytosis, Rosai-Dorfman disease, Erdheim-Chester disease and juvenile xanthogranuloma; (2) to provide the reader with important pathologic, epidemiologic and clinical features of these diseases. The histiocytoses are a diverse group of diseases which typically manifest with multiorgan involvement. Understanding the pathologic, epidemiologic and clinical features of these entities can help the radiologist suggest an accurate diagnosis of histiocytosis when typical imaging features are encountered.
Topics: Cardiovascular Diseases; Diagnostic Imaging; Histiocytosis, Langerhans-Cell; Humans; Thoracic Diseases
PubMed: 27603510
DOI: 10.1259/bjr.20160347 -
International Journal of Dermatology Oct 2017Yellowish papules, nodules, or plaques, namely "xanthomatous" lesions, may be seen on the eyelids in the course of various disorders. The prototype is "xanthelasma... (Review)
Review
Yellowish papules, nodules, or plaques, namely "xanthomatous" lesions, may be seen on the eyelids in the course of various disorders. The prototype is "xanthelasma palpebrarum" (XP) that is localized only to the eyelids and may be associated with hyperlipidemia. On the other hand, different types of normolipemic disorders may also cause xanthomatous eyelid lesions. Among these, Langerhans cell histiocytosis, diffuse normolipemic xanthoma, and non-Langerhans cell histiocytoses (papular xanthoma, juvenile xanthogranuloma, xanthoma disseminatum, adult-onset xanthogranuloma, adult-onset asthma and periocular xanthogranuloma, necrobiotic xanthogranuloma, Erdheim-Chester disease, Rosai-Dorfman disease, and reticulohistiocytosis) can be listed. The eyelid findings of this heterogeneous group of disorders are challenging to differentiate from each other due to common clinical aspects that may even sometimes mimic XP. Nodularity, induration, ulceration, diffuse eyelid involvement, and extension from eyelids to the neighboring skin may represent the clinical features of xanthomatous lesions other than XP. It is necessary to obtain a thorough history and exclude XP and then perform detailed dermatological and systemic examination, biopsy for histopathologic confirmation, and appropriate specific imaging screens. As some of the conditions may be associated with other systemic disorders, especially malignancies, the differentiation of xanthomatous eyelid lesions has a critical importance, and clinical signs can be guiding.
Topics: Eyelid Diseases; Histiocytosis, Langerhans-Cell; Histiocytosis, Non-Langerhans-Cell; Humans; Hyperlipidemias; Xanthomatosis
PubMed: 28500693
DOI: 10.1111/ijd.13637 -
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 -
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 -
AJNR. American Journal of Neuroradiology Nov 2022Juvenile xanthogranuloma is a rare clonal, myeloid, neoplastic disorder. Typically, juvenile xanthogranuloma is a self-limited disorder of infancy, often presenting as a...
BACKGROUND AND PURPOSE
Juvenile xanthogranuloma is a rare clonal, myeloid, neoplastic disorder. Typically, juvenile xanthogranuloma is a self-limited disorder of infancy, often presenting as a solitary red-brown or yellow skin papule/nodule. A small subset of patients present with extracutaneous, systemic juvenile xanthogranuloma, which may include the CNS. The goal of this retrospective study was to evaluate and categorize the neuroimaging findings in a representative cohort of pediatric patients with CNS juvenile xanthogranuloma.
MATERIALS AND METHODS
The brain and/or spine MR imaging data of 14 pediatric patients with pathology-proven juvenile xanthogranuloma were categorized and evaluated for the location; the signal intensity of xanthogranulomas on T1WI, T2WI, DWI, and a matching ADC map for the pattern and degree of contrast enhancement; and the presence of perilesional edema, cysts, or necrosis.
RESULTS
Fourteen pediatric patients (8 girls, 6 boys; mean age, 84 months) were included in the study. Patients presented with a wide variety of different symptoms, including headache, seizure, ataxia, strabismus, hearing loss, facial paresis, and diabetes insipidus. Juvenile xanthogranuloma lesions were identified in a number of different sites, including supra- and infratentorial as well as intracranial and spinal leptomeningeal. Five patients were categorized into the neuroradiologic pattern unifocal CNS juvenile xanthogranuloma; 8, into multifocal CNS juvenile xanthogranuloma; and 1, into multifocal CNS juvenile xanthogranuloma with intracranial and spinal leptomeningeal disease. In most cases, xanthogranulomas were small-to-medium intra-axial masses with isointense signal on T1WI (compared with cortical GM), iso- or hyperintense signal on T2WI, had restricted diffusion and perilesional edema. Almost all xanthogranulomas showed avid contrast enhancement. However, we also identified less common patterns with large lesions, nonenhancing lesions, or leptomeningeal disease. Four cases had an additional CT available. On CT, all xanthogranulomas were homogeneously hyperdense (solid component) without evident calcifications.
CONCLUSIONS
CNS juvenile xanthogranuloma may demonstrate heterogeneous neuroimaging appearances potentially mimicking other diseases, such as primary brain neoplasms, metastatic disease, lymphoma and leukemia, other histiocytic disorders, infections, or granulomatous diseases.
Topics: Male; Female; Child; Humans; Xanthogranuloma, Juvenile; Retrospective Studies; Magnetic Resonance Imaging; Neuroimaging; Head
PubMed: 36265894
DOI: 10.3174/ajnr.A7683