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Journal of the European Academy of... Dec 2023
Topics: Humans; Neurofibromatosis 1; Xanthogranuloma, Juvenile; Leukemia
PubMed: 37422708
DOI: 10.1111/jdv.19321 -
Pediatric Blood & Cancer May 2023To perform a systematic review to investigate the available literature regarding systemic juvenile xanthogranuloma (SJXG) and report the population characteristics,... (Review)
Review
OBJECTIVE
To perform a systematic review to investigate the available literature regarding systemic juvenile xanthogranuloma (SJXG) and report the population characteristics, clinical manifestation, therapy, and outcome.
REVIEW METHODS
A search of PubMed, Embase, and Cochrane Library for all articles published between 1981 and 2022 was performed with variations and combinations of the following search terms: extracutaneous, visceral, systemic, and juvenile xanthogranuloma (JXG). Data extracted included demographics, organ involvement, treatment, outcome, and permanent sequelae.
RESULTS
A total of 103 articles encompassing 159 patients met the inclusion criteria. The median onset age was 9 months, with a male predominance (61%). The distribution of major involved organs varied by age, and younger onset age was associated with more organ involvement. The most commonly involved site was the central nervous system (CNS) (40.9%), followed by the liver (31.4%), the lung (18.9%), and the eye (18.2%). At the termination of follow-up, 93 patients (58.5%) were alive with no disease, 56 (35.2%) were alive with disease, and 10 (6.3%) were dead of disease. There was a significant difference in outcome between patients with and without spleen involvement (p = .0003), and patients with spleen involvement suffered a higher risk of death. Permanent sequelae mainly comprised CNS symptoms and ocular manifestations.
CONCLUSIONS
SJXG can involve varying numbers and combinations of extracutaneous sites. There is no standard therapy for SJXG and clinicians should choose individualized therapy modalities.
Topics: Humans; Male; Infant; Female; Xanthogranuloma, Juvenile; Eye; Central Nervous System; Disease Progression; Liver
PubMed: 36779547
DOI: 10.1002/pbc.30232 -
Oral Surgery, Oral Medicine, Oral... Jan 2022The purpose of this study was to describe an unusual case of intraoral juvenile xanthogranuloma (JXG) and to perform a systematic review to investigate the available... (Review)
Review
OBJECTIVE
The purpose of this study was to describe an unusual case of intraoral juvenile xanthogranuloma (JXG) and to perform a systematic review to investigate the available literature regarding oral JXGs.
STUDY DESIGN
We present a new case of oral JXG arising in a 36-year-old Italian woman and conducted a systematic literature review in PubMed, Web of Science, and Scopus, according to the PRISMA guidelines.
RESULTS
Our review of the English-language literature yielded 34 cases of oral JXG, which included our case report.
CONCLUSIONS
JXG is a non-Langerhans cell histiocytosis. Oral JXG has been reported, but it is a rare manifestation. Because of the rarity of oral lesions and possible variations in the clinical and histologic presentation, the correct diagnosis can be challenging, requiring a careful clinical and histopathologic evaluation with adjuvant immunohistochemical studies.
Topics: Adult; Female; Humans; Mouth Diseases; Xanthogranuloma, Juvenile
PubMed: 34736900
DOI: 10.1016/j.oooo.2021.09.015 -
Pediatric Dermatology Mar 2020Neurothekeoma is a rare, benign, cutaneous neoplasm consisting of Schwann cells and perineural cells in myxoid stroma. Cellular neurothekeoma (CNT) was previously...
BACKGROUND/OBJECTIVES
Neurothekeoma is a rare, benign, cutaneous neoplasm consisting of Schwann cells and perineural cells in myxoid stroma. Cellular neurothekeoma (CNT) was previously thought to represent a morphologic variant of neurothekeoma, but recent studies have shown that CNTs are unrelated to neurothekeomas and are more likely of histiocytic lineage.
METHODS
Herein, we describe seven cases of CNT in pediatric patients. A comprehensive search of PubMed was performed, and 71 cases of cellular neurothekeoma in pediatric patients were reviewed.
RESULTS
The clinical differential diagnosis for these lesions included Spitz nevi, keloid, juvenile xanthogranuloma, cutaneous lymphoid hyperplasia, and lymphomatoid papulosis. All cases were treated by excision or excisional biopsy. Histopathologically, all demonstrated multilobular, primarily intradermal neoplasms composed of plump spindled or epithelioid mononuclear cells with abundant eosinophilic pale-staining cytoplasm. Immunophenotypic findings included CD68 and NKI/C3 positivity, and negative staining with cytokeratin, S-100, Melan-A, and SOX-10.
CONCLUSION
Cellular neurothekeoma is distinguished from conventional neurothekeoma by increased cellularity, a lack of myxoid stroma, and a lack of neural expression with immunohistochemical stains. These uncommon neoplasms should be included in the differential diagnosis of dermal nodules in children. Accurate diagnosis of these lesions is essential, as they can be mistaken for malignancy leading to unnecessary treatment.
Topics: Adolescent; Child; Child, Preschool; Cohort Studies; Female; Humans; Infant; Male; Neurothekeoma; Skin Neoplasms
PubMed: 31930561
DOI: 10.1111/pde.14043 -
Archives of Dermatology Aug 1995The concurrent finding of neurofibromatosis type 1 (NF), juvenile chronic myelogenous leukemia (JCML), and juvenile xanthogranuloma (JXG) has been repeatedly reported.... (Review)
Review
BACKGROUND AND DESIGN
The concurrent finding of neurofibromatosis type 1 (NF), juvenile chronic myelogenous leukemia (JCML), and juvenile xanthogranuloma (JXG) has been repeatedly reported. Juvenile chronic myelogenous leukemia has been found more frequently in patients with NF and may present with various cutaneous manifestations, including JXG. To our knowledge, the relationship among these three entities has never been explored. The purpose of the present study is to explore this relationship by using a systematic review of the literature. We present five demonstrative cases of various associations among NF, JCML, and JXG.
RESULTS
A family history of NF was found in 85% to 95% of children with NF and JCML (with or without JXG), as compared with that found in 47% of children with NF and JXG. The observed frequency of the triple association is 30-fold to 40-fold higher than that expected. It is estimated that children with NF and JXG have a 20-fold to 32-fold higher risk for JCML than do patients with NF who do not have JXG.
CONCLUSIONS
A concomitant finding of JCML and JXG in children with NF represents a true association, rather than a coincidence. A finding of JXG in an infant with NF should alert a physician to a possible development of JCML.
Topics: Child, Preschool; Female; Humans; Infant; Infant, Newborn; Leukemia, Myelogenous, Chronic, BCR-ABL Positive; Male; Neurofibromatosis 1; Xanthogranuloma, Juvenile
PubMed: 7632061
DOI: No ID Found