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Ophthalmology May 2015
Topics: Eyelid Diseases; Granuloma; Histiocytes; Humans; Infant; Male; Xanthogranuloma, Juvenile
PubMed: 26711132
DOI: 10.1016/j.ophtha.2014.12.024 -
The American Journal of Dermatopathology Oct 2017Juvenile xanthogranuloma is a non-Langerhans cell lesion mostly limited to the skin but occasionally presenting in extracutaneous locations or associated with systemic...
Juvenile xanthogranuloma is a non-Langerhans cell lesion mostly limited to the skin but occasionally presenting in extracutaneous locations or associated with systemic conditions. Lesions need to be distinguished mainly from dermatofibroma, xanthoma, Langerhans cell histiocytosis, or reticulohistiocytoma. Herein, we present a hemosiderotic variant of juvenile xanthogranuloma in a 12-year-old girl, which we have not found described in literature. The lesion presented at the back of the scalp as a slowly growing yellowish polypoid lesion showing occasional bleeding. The histopathological examination demonstrated a cellular infiltrate expanding the dermis, with a Grenz zone and with no remarkable changes in the overlying epidermis. The papule was made of mononucleated macrophages, many of which were xanthomatous. There were some Touton giant cells. The lesion was intermingled with a mild inflammatory infiltrate comprising lymphocytes, plasma cells, neutrophils, and some eosinophils. Many of the macrophages contained abundant cytoplasmic deposits of iron. The macrophages expressed CD68 and CD163, whereas they failed to express S100 protein, CD1a, and Langerin.
Topics: Child; Female; Hemosiderosis; Humans; Xanthogranuloma, Juvenile
PubMed: 28398921
DOI: 10.1097/DAD.0000000000000871 -
Dermatology (Basel, Switzerland) 2021Dermoscopy is useful for the evaluation of juvenile xanthogranuloma (JXG). The classical "setting sun" pattern is characteristic of JXG, but its sensibility appears to...
BACKGROUND
Dermoscopy is useful for the evaluation of juvenile xanthogranuloma (JXG). The classical "setting sun" pattern is characteristic of JXG, but its sensibility appears to be limited. An extensive description of other dermoscopic findings is not available in the literature.
OBJECTIVES
The aim of this study was to valuate and describe the clinical and dermoscopic characteristics of a series of JXG cases.
METHODS
This is a retrospective descriptive study, including cases with histopathologic diagnosis of JXG, and the availability of clinical and dermoscopic images, assessed for the presence of dermoscopic features based on the available literature.
RESULTS
A total of 17 lesions were analyzed. 70.6% showed global symmetry, 35.3% presented the typical "setting sun" pattern. All lesions showed yellow-orange and/or pink-red structureless color. Other dermoscopic features were yellow globules (35.3%), shiny white streaks (23.5%), brown globules (17.6%), pale-brown network (11.8%), negative network (11.8%), erosion/ulceration (11.8%), rosettes (5.9%), and hemorrhage (5.9%). Scales were seen in 64.7% of patients. Vascular structures were observed in all the lesions, mostly in an irregular distribution (76.5%). The observed vessel types were dotted (52.9%), linear (52.9%), branching-arboriform (29.4%), comma-like (23.5%), hairpin-like (17.6%), globular (17.6%), coiled (11.8%), and milky-red globules (5.9%).
CONCLUSIONS
Symmetry, yellow/orange-pink/red color, yellow globules, shiny white streaks, and irregularly distributed different types of vascular structures are the main dermoscopic features of JXG. This is the largest dermoscopic registry of JXG published to date.
Topics: Adolescent; Adult; Age Factors; Child; Dermoscopy; Female; Humans; Male; Middle Aged; Retrospective Studies; Xanthogranuloma, Juvenile; Young Adult
PubMed: 33075787
DOI: 10.1159/000510265 -
Pediatric Radiology Feb 2023Juvenile xanthogranuloma is rare in children and there are limited data on its imaging features.
BACKGROUND
Juvenile xanthogranuloma is rare in children and there are limited data on its imaging features.
OBJECTIVE
To analyze the computed tomography (CT) and magnetic resonance imaging (MRI) features of juvenile xanthogranuloma in children.
MATERIALS AND METHODS
A retrospective review was performed of clinical and radiographic data of histologically confirmed juvenile xanthogranuloma between January 2009 and June 2020.
RESULTS
Fourteen children (4 girls, 10 boys; age range: 1 day to 13 years, mean age: 73 months) were included in the study: 4/14 had CT only, 5/14 had MRI only and 5/14 had CT and MRI. Sites of extracutaneous juvenile xanthogranuloma involvement included subcutaneous soft tissue (8/14), liver (2/14), lungs (2/14), kidney (2/14), nose (2/14), pancreas (1/14), central nervous system (1/14) and greater omentum (1/14), mainly manifested as single or multiple nodules or masses in different organs. On CT, the lesions mainly manifested as an iso-hypo density mass with mild or marked enhancement. On MRI, the lesions mainly manifested as slightly hyperintense on T1 and slightly hypointense on T2, with decreased diffusivity and homogeneous enhancement. Juvenile xanthogranuloma was not included in the imaging differential diagnosis in any case.
CONCLUSION
Juvenile xanthogranuloma mainly manifests as single or multiple nodules or masses in different organs. Slight hyperintensity on T1 and slight hypointensity on T2 with decreased diffusivity and homogeneous enhancement are relatively characteristic imaging findings of juvenile xanthogranuloma. Combined with its typical skin lesions and imaging features, radiologists should include juvenile xanthogranuloma in the differential diagnosis when confronted with similar cases.
Topics: Male; Child; Female; Humans; Infant; Tomography, X-Ray Computed; Xanthogranuloma, Juvenile; Magnetic Resonance Imaging; Retrospective Studies; Diagnosis, Differential
PubMed: 36040525
DOI: 10.1007/s00247-022-05486-5 -
Surgical Pathology Clinics Sep 2019Histiocytic and dendritic cell neoplasms are very rare, belonging to a group that share morphologic, immunophenotypic, and ultrastructural characteristics of mature... (Review)
Review
Histiocytic and dendritic cell neoplasms are very rare, belonging to a group that share morphologic, immunophenotypic, and ultrastructural characteristics of mature histiocytic/dendritic neoplasms. Histiocytic and dendritic cell neoplasms may arise de novo or in association with B-cell, T-cell, or myeloid neoplasms. Recent molecular findings, particularly the discoveries of the mutations in the RAS-RAF-MEK-ERK pathway, have greatly advanced the diagnosis and treatment options. Histiocytic and dendritic cell neoplasms may closely resemble each other, non-hematopoietic neoplasms, and even reactive processes. Therefore, it is essential to understand the clinicopathologic characteristics, differential diagnoses, and pitfalls of each entity.
Topics: Dendritic Cells; Diagnosis, Differential; Histiocytic Disorders, Malignant; Humans; Prognosis
PubMed: 31352989
DOI: 10.1016/j.path.2019.03.013 -
Indian Pediatrics Nov 2018
Topics: Child, Preschool; Diagnosis, Differential; Exanthema; Humans; Male; Skin; Xanthogranuloma, Juvenile
PubMed: 30587663
DOI: No ID Found -
Pediatric Dermatology Jan 2022
Topics: Humans; Xanthogranuloma, Juvenile
PubMed: 35106819
DOI: 10.1111/pde.14920 -
American Journal of Hematology Jul 2023The spectrum of somatic mutations in pediatric histiocytoses and their clinical implications are not fully characterized, especially for non-Langerhans cell...
The spectrum of somatic mutations in pediatric histiocytoses and their clinical implications are not fully characterized, especially for non-Langerhans cell histiocytosis (-LCH) subtypes. A cohort of 415 children with histiocytosis from the French histiocytosis registry was reviewed and analyzed for BRAF . Most BRAF samples were analyzed by next-generation sequencing (NGS) with a custom panel of genes for histiocytosis and myeloid neoplasia. Of 415 case samples, there were 366 LCH, 1 Erdheim-Chester disease, 21 Rosai-Dorfman disease (RDD), 21 juvenile xanthogranuloma (JXG, mostly with severe presentation), and 6 malignant histiocytosis (MH). BRAF was the most common mutation found in LCH (50.3%, n = 184). Among 105 non-BRAF -mutated LCH case samples, NGS revealed mutations as follows: MAP2K1 (n = 44), BRAF exon 12 deletions (n = 26), and duplications (n = 8), other BRAF V600 codon mutation (n = 4), and non-MAP-kinase pathway genes (n = 5). Wild-type sequences were identified in 17.1% of samples. BRAF was the only variant significantly correlated with critical presentations: organ-risk involvement and neurodegeneration. MAP-kinase pathway mutations were identified in seven RDD (mostly MAP2K1) and three JXG samples, but most samples were wild-type on NGS. Finally, two MH samples had KRAS mutations, and one had a novel BRAF mutation. Rarely, we identified mutations unrelated to MAP-kinase pathway genes. In conclusion, we characterized the mutational spectrum of childhood LCH and clinical correlations of variants and subtypes. Variants responsible for JXG and RDD were not elucidated in more than half of the cases, calling for other sequencing approaches.
Topics: Humans; Child; Histiocytosis, Langerhans-Cell; Proto-Oncogene Proteins B-raf; Erdheim-Chester Disease; Mutation; Exons
PubMed: 37115038
DOI: 10.1002/ajh.26938 -
Cancers Jan 2021Neurofibromatosis type 1 (NF1) is a complex autosomal dominant disorder associated with germline mutations in the NF1 tumor suppressor gene. NF1 belongs to a class of... (Review)
Review
Neurofibromatosis type 1 (NF1) is a complex autosomal dominant disorder associated with germline mutations in the NF1 tumor suppressor gene. NF1 belongs to a class of congenital anomaly syndromes called RASopathies, a group of rare genetic conditions caused by mutations in the Ras/mitogen-activated protein kinase pathway. Generally, NF1 patients present with dermatologic manifestations. In this review the main features of café-au-lait macules, freckling, neurofibromas, juvenile xanthogranuloma, nevus anemicus and other cutaneous findings will be discussed.
PubMed: 33530415
DOI: 10.3390/cancers13030463 -
Optometry and Vision Science : Official... Jun 2015To report the clinical and histopathologic characteristics and prognoses of three ocular juvenile xanthogranuloma (JXG) cases.
PURPOSE
To report the clinical and histopathologic characteristics and prognoses of three ocular juvenile xanthogranuloma (JXG) cases.
CASE REPORTS
Three cases were included in this study. The first case involved a 5-year-old girl with an enlarging yellowish mass at the limbus with corneal involvement. Ultrasound biomicroscopy showed a poorly demarcated mass involving the underlying cornea and sclera. The mass was excised in combination with a lamellar keratoplasty procedure. No recurrence was seen at the 2-year follow-up. The second case involved a 2-year-old boy with an enlarging yellowish mass on the conjunctiva, without limbal involvement. The mass was excised with no recurrence noted 1 year later. The third case involved a 7-month-old girl with unilateral eye redness and photophobia combined with multiple orange-red, raised nodular lesions on the skin. Examination under general anesthesia revealed a gray-yellow mass in the inferior and temporal iridocorneal angles. The intraocular pressure and corneal diameter were normal. Examination using ultrasound biomicroscopy showed a high-level echo lump in the inferior and temporal angles. There was no treatment for this case. At the 1-year follow up, the eye symptoms had resolved and the skin lesions were flat. Histopathologic examinations were completed on all three cases. The presence of Touton giant cells in hematoxylin-eosin staining, positive CD68 staining, and negative S-100 and CD1a staining confirmed the diagnosis of JXG.
CONCLUSIONS
We report three histopathologically confirmed ocular JXG cases involving the corneoscleral limbus, conjunctiva, and iris with angle involvement, respectively. Ultrasound biomicroscopy performed on two cases demonstrated no obvious division between the mass and the surrounding structures. The cases with ocular surface involvement were successfully treated by excision and the case with iris involvement spontaneously regressed without any treatment. Early excision may be the better choice for ocular surface lesions, especially when corneal involvement is a possibility.
Topics: Anterior Eye Segment; Child, Preschool; Eye Diseases; Female; Humans; Infant; Male; Microscopy, Acoustic; Xanthogranuloma, Juvenile
PubMed: 25969381
DOI: 10.1097/OPX.0000000000000609