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Asian Journal of Surgery Jun 2023
Topics: Humans; Xanthogranuloma, Juvenile; Magnetic Resonance Imaging
PubMed: 36473813
DOI: 10.1016/j.asjsur.2022.11.121 -
European Journal of Dermatology : EJD Sep 2022
Topics: Humans; Xanthogranuloma, Juvenile
PubMed: 36468726
DOI: 10.1684/ejd.2022.4327 -
Case Reports in Ophthalmology 2022Xanthogranuloma is a benign histiocytic disorder that generally appears in infants and children and often called juvenile xanthogranuloma (JXG). Typical reddish-yellow...
Xanthogranuloma is a benign histiocytic disorder that generally appears in infants and children and often called juvenile xanthogranuloma (JXG). Typical reddish-yellow cutaneous papules or nodules are the most common presentation of JXG. Extracutaneous JXG affects eyes, brain, lungs, liver, spleen, and other sites. Isolated ocular manifestation without skin lesion is rare, especially in adult patients. Here, we report a case of a 27-year-old man who presented with gradually growing yellowish mass at the corneoscleral area of the left eye for 5 months. The patient had worn soft contact lenses for more than 10 years. With atypical age of onset and the absence of skin lesion, total mass excision with lamellar corneoscleral graft and amniotic membrane transplantation was done, and the diagnosis of adult-onset limbal xanthogranuloma was made by histopathological and immunohistochemical examinations. Postoperatively, the patient had good vision with corrected distant visual acuity of 20/30, and the graft was clear. There was no evidence of recurrence at 4-year follow-up. We found that excision with lamellar corneoscleral graft in limbal xanthogranuloma shows good result with no recurrence. The same result occurred to other previous cases reported, so complete excision with graft could be an effective treatment of choice in patient with limbal xanthogranuloma.
PubMed: 36466058
DOI: 10.1159/000526711 -
Radiology Case Reports Feb 2023Juvenile xanthogranuloma (JXG) is a type of non-Langerhans cell histiocytosis that rarely involves other than the skin. Here, we present detailed ultrasound (US)...
Juvenile xanthogranuloma (JXG) is a type of non-Langerhans cell histiocytosis that rarely involves other than the skin. Here, we present detailed ultrasound (US) findings, including a contrast study, of a rare JXD renal lesion. A 42-year-old woman with JXG had chronic kidney disease. Ultrasound showed multiple cystic masses with fine internal septa in both kidneys. Contrast-enhanced US revealed early staining and late washout consistent with the internal septa inside the masses and led us to suspect cystic renal cell carcinomas in both kidneys. Left nephrectomy was performed for diagnostic purposes. Microscopic examination revealed a foamy component with Touton-type giant cells by histiocytosis; CD68 and S100 were positive, and CD1a was negative, leading the diagnosis of JXD. The US findings of extracutaneous lesions on JXA are variable and can be cystic, and when arising in the kidney may resemble cystic renal cell carcinoma.
PubMed: 36439921
DOI: 10.1016/j.radcr.2022.10.101 -
Actas Dermo-sifiliograficas Mar 2023The neurofibromatosis 1 (NF1) diagnosis is challenging in young children without a family history of NF1. The aims of this study were to estimate diagnostic delays in... (Observational Study)
Observational Study
BACKGROUND AND OBJECTIVES
The neurofibromatosis 1 (NF1) diagnosis is challenging in young children without a family history of NF1. The aims of this study were to estimate diagnostic delays in children without a family history of NF1 and to examine the effects of using café au lait macules and skin fold freckling as a single diagnostic criterion.
PATIENTS AND METHODS
Retrospective, descriptive, observational study of all patients diagnosed with NF1 before the age of 18 years who were seen at our hospital. The medical records of those included were reviewed to identify the date on which the diagnostic criteria of NF1 were objectified. The patients were categorized into 2 groups: those with a known parental history of NF1 and those without. Café au lait macules and skin fold freckling were assessed as a single diagnostic criterion, and genetic evidence was considered to confirm highly suspicious cases.
RESULTS
We studied 108 patients younger than the age of 18 years with a diagnosis of NF1. Mean (SD) age at diagnosis was 3.94 (±3.8) years for the overall group, 1 year for patients with a parental history of NF1, and 4 years and 8 months for those without. Diagnosis was therefore delayed by 3 years and 8 months in patients without a family history.
CONCLUSION
Skin lesions were the first clinical manifestation of NF1 in most patients. We believe that the National Institutes of Health's diagnostic criteria for NF1 should be updated to aid diagnosis in young children.
Topics: Humans; Child; Child, Preschool; Adolescent; Neurofibromatosis 1; Retrospective Studies; Cafe-au-Lait Spots; Skin Diseases; Melanosis
PubMed: 36370836
DOI: 10.1016/j.ad.2022.10.036 -
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 -
Zhonghua Yi Xue Yi Chuan Xue Za Zhi =... Nov 2022To explore the genetic basis for a child with café-au-lait macules and juvenile xanthogranuloma.
OBJECTIVE
To explore the genetic basis for a child with café-au-lait macules and juvenile xanthogranuloma.
METHODS
Clinical data and peripheral blood samples of the patient and her family members were collected and subjected to targeted capture and high-throughput sequencing. Candidate variant was verified by Sanger sequencing.
RESULTS
A deletional variant in exon 23 of the NF1 gene was detected in the proband. Sanger sequencing has verified it as a de novo variant, which was highly correlated with the clinical manifestations of the patient and her mother. The diagnosis of neurofibromatosis 1 (NF1) was established. The variant was unreported previously.
CONCLUSION
Targeted capture and next-generation sequencing combined with Sanger sequencing can facilitate early diagnosis of NF1 and provide a basis for the clinical treatment, genetic counseling and prenatal diagnosis.
Topics: Child; Female; Humans; Cafe-au-Lait Spots; Genes, Neurofibromatosis 1; Neurofibromatosis 1; Xanthogranuloma, Juvenile
PubMed: 36317216
DOI: 10.3760/cma.j.cn511374-20211104-00880 -
JAAD Case Reports Nov 2022
PubMed: 36275874
DOI: 10.1016/j.jdcr.2022.09.007 -
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 -
[Zhonghua Yan Ke Za Zhi] Chinese... Oct 2022A 4-month-old boy was admitted to the hospital after his parents noticed fog in his right eye for 27 days. Physical examination revealed multiple light brown macules on...
A 4-month-old boy was admitted to the hospital after his parents noticed fog in his right eye for 27 days. Physical examination revealed multiple light brown macules on the skin. The intraocular pressure (IOP) of the right eye was 34.4 mmHg (1 mmHg=0.133kPa) and the corneal was enlarged and edema while the aqueous humor was cloudy with blood in the right eye. Yellow peripheral anterior synechia was seen on the temporal and inferior iris. Ultrasound biomicroscopy (UBM) showed extensive adhesion closure of the anterior chamber angle and the local thicken iris with the nodule. No obvious abnormality was observed in the left eye. It was confirmed as juvenile xanthogranuloma by skin lesion biopsy. IOP was normal after systemic and local therapy with corticosteroids and local IOP lowering medication. Follow up 35 months, IOP is normal without medication.
Topics: Child; Glaucoma; Glaucoma, Angle-Closure; Humans; Infant; Intraocular Pressure; Iris; Male; Tonometry, Ocular; Xanthogranuloma, Juvenile
PubMed: 36220652
DOI: 10.3760/cma.j.cn112142-20211011-00475