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Journal of Clinical and Experimental... Mar 2022Histiocytic neoplasms, such as Langerhans cell histiocytosis (LCH) and disseminated juvenile xanthogranuloma (JXG), can involve the liver and sometimes cause liver...
Histiocytic neoplasms, such as Langerhans cell histiocytosis (LCH) and disseminated juvenile xanthogranuloma (JXG), can involve the liver and sometimes cause liver failure. We aimed to classify non-LCH histiocytic proliferating disorders that do not exhibit typical disseminated JXG histology. We examined four pediatric patients who presented with liver failure and splenomegaly. Two patients with liver cirrhosis without cholestasis underwent liver transplantation (LT). The other two patients presented with giant cell hepatitis causing neonatal/infantile acute liver failure (ALF). The infantile ALF patient also underwent LT. Liver dysfunction developed after LT in all three transplant cases and the grafts exhibited massive sinusoidal infiltration of histiocytes with hemophagocytosis, similar to the native liver. The neonatal ALF patient was treated with an LCH-type chemotherapy regimen, and is alive and well at 18 months. Infiltrating histiocytes were positive for CD68 and CD163, and negative for CD1a, CD207, and S-100 protein. The BRAF V600E mutation was not present. Liver histological findings were not consistent with conventional disseminated JXG or LCH, although the histological findings in other organs overlapped those of well-known histiocytic neoplasms. The histological and immunohistochemical findings of infiltrating histiocytes suggest that these four cases constituted a disseminated JXG-like systemic disease.
Topics: Child; Histiocytes; Histiocytosis, Langerhans-Cell; Humans; Liver Failure; Xanthogranuloma, Juvenile
PubMed: 34840207
DOI: 10.3960/jslrt.21022 -
Indian Pediatrics Sep 2005
Topics: Back; Buttocks; Humans; Infant; Male; Remission, Spontaneous; Xanthogranuloma, Juvenile
PubMed: 16208059
DOI: No ID Found -
Postepy Dermatologii I Alergologii Feb 2021
PubMed: 34408584
DOI: 10.5114/ada.2021.104292 -
The Journal of International Medical... Sep 2020Juvenile xanthogranuloma (JXG) is the most common non-Langerhans cell histiocytic disorder in children. This report describes the case of a 28-day-old boy that presented... (Review)
Review
Juvenile xanthogranuloma (JXG) is the most common non-Langerhans cell histiocytic disorder in children. This report describes the case of a 28-day-old boy that presented with multiple subcutaneous nodular lesions on the trunk and extremities, and multiple red nodular lesions on the scrotum. Magnetic resonance imaging (MRI) of the brain showed a well-demarcated extra-axial dura-based mass that appeared isointense or slightly hyperintense on T1-weighted images, hypointense on T2-weighted images and had intense enhancement on gadolinium-enhanced T1-weighted images. Computed tomography (CT) or MRI scans of the chest and abdomen revealed multiple scattered nodular or patchy lesions of varying sizes in the lungs, liver and left kidney. Histological analysis of a subcutaneous mass suggested JXG. The patient was diagnosed with neonatal systemic JXG with involvement of the central nervous system, lungs, liver, kidneys, subcutaneous soft tissue and skin. CT and MRI after 3 months of treatment with methylprednisolone sodium succinate demonstrated that the lesions were obviously diminished. This report discusses the imaging findings in this current case of multi-organ JXG and reviews the imaging literature on this condition to improve awareness of the lesions in order to help radiologists establish an accurate differential diagnosis when confronted with similar cases.
Topics: Brain; Child; Diagnosis, Differential; Humans; Infant, Newborn; Magnetic Resonance Imaging; Male; Tomography, X-Ray Computed; Xanthogranuloma, Juvenile
PubMed: 32981400
DOI: 10.1177/0300060520956416 -
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 -
Frontiers in Oncology 2020The association between acute lymphoblastic leukemia (ALL), non-Langerhans cell histiocytosis (non-LCH), and hemophagocytic lymphohistiocytosis (HLH), to the best of our...
The association between acute lymphoblastic leukemia (ALL), non-Langerhans cell histiocytosis (non-LCH), and hemophagocytic lymphohistiocytosis (HLH), to the best of our knowledge, has not been published to date. Juvenile xanthogranuloma (JXG), as a type of non-LCH, is usually a benign disease limited to the skin. Systemic involvement is rarely reported. The present case report describes a 15-year-old boy diagnosed with disseminated JXG involving skin and bone marrow concurrent with severe symptoms of HLH during ALL therapy. Examination of immunoglobulin heavy chain genes in B-cell precursor leukemic blasts and histiocytes in the skin and bone marrow revealed identical rearrangements, confirming clonal relationship between both diseases. Implementation of corticosteroids, vinblastine, etoposide, cyclosporine, and tocilizumab resulted in partial skin lesion resolution with no improvement of bone marrow function; therefore, hematopoietic stem cell transplantation (HSCT) was eventually performed. The patient's hematological and general status has improved gradually; however, remarkable recovery of skin lesions was observed after empirical antitubercular therapy. spp. infection should be considered as a possible secondary HLH trigger. Triple association of ALL, non-LCH, and HLH highlights heterogeneity of histiocytic disorders and possible common origin of dendritic and lymphoid cells.
PubMed: 32719740
DOI: 10.3389/fonc.2020.00921 -
HCA Healthcare Journal of Medicine 2022Description Juvenile xanthogranuloma (JXG) is a rare type of non-Langerhans cell histiocytosis. JXGs are benign and have a self-limiting course generally lasting 6...
Description Juvenile xanthogranuloma (JXG) is a rare type of non-Langerhans cell histiocytosis. JXGs are benign and have a self-limiting course generally lasting 6 months to 3 years, with some reported durations longer than 6 years. We present a rarer congenital giant variant, defined as lesions with a diameter larger than 2 cm. It is uncertain if the natural history of giant xanthogranulomas is similar to the usual JXG. We followed a 5-month-old patient with a 3.5 cm in diameter, histopathologically-confirmed, congenital, giant JXG located on the right side of her upper back. The patient was seen every 6 months for 2.5 years. At 1 year of age, the lesion had decreased in size, lightened in color, and was less firm. At 1.5 years old, the lesion had flattened. By 3 years old, the lesion had resolved but left a hyperpigmented patch with a scar at the punch biopsy site. Our case represents a congenital giant JXG that was biopsied to confirm the diagnosis and then monitored until resolution. This case supports the clinical course of giant JXG not being affected by the larger lesion size and that aggressive treatments or procedures are not warranted.
PubMed: 37427313
DOI: 10.36518/2689-0216.1333 -
Ocular Oncology and Pathology Apr 2018To report a case of juvenile xanthogranuloma that simulated a chalazion and to discuss the association between juvenile xanthogranuloma and Langerhans cell histiocytosis.
PURPOSE
To report a case of juvenile xanthogranuloma that simulated a chalazion and to discuss the association between juvenile xanthogranuloma and Langerhans cell histiocytosis.
METHOD
Case report and review of literature.
RESULTS
A 13-year-old boy with a prior history of Langerhans cell histiocytosis was referred to our clinic for a possible chalazion. The patient had undergone treatment for Langerhans cell histiocytosis 10 years prior. The patient underwent an excisional biopsy. Histopathology revealed a proliferation of histiocytes and lymphocytes with Touton giant cells, consistent with a diagnosis of juvenile xanthogranuloma.
CONCLUSIONS
Though the relationship between Langerhans cell histiocytosis and juvenile xanthogranuloma has yet to be fully elucidated, juvenile xanthogranuloma should be included in the differential diagnosis for any former Langerhans cell histiocytosis patient presenting with a new cutaneous lesion.
PubMed: 29765943
DOI: 10.1159/000479524 -
Haematologica Apr 2024The standard treatment for Langerhans cell histiocytosis (LCH) is chemotherapy, although the failure rates are high. Since MAP-kinase activating mutations are found in...
The standard treatment for Langerhans cell histiocytosis (LCH) is chemotherapy, although the failure rates are high. Since MAP-kinase activating mutations are found in most cases, BRAF- and MEK-inhibitors have been used successfully to treat patients with refractory or relapsed disease. However, data on long-term responses in children are limited and there are no data on the use of these inhibitors as first-line therapy. We treated 34 patients (26 with LCH, 2 with juvenile xanthogranuloma, 2 with Rosai-Dorfman disease, and 4 with presumed single site-central nervous system histiocytosis) with dabrafenib and/or trametinib, either as first line or after relapse or failure of chemotherapy. Sixteen patients, aged 1.3-21 years, had disease that was recurrent or refractory to chemotherapy, nine of whom had multisystem LCH with risk-organ involvement. With a median treatment duration of 4.3 years, 15 (94%) patients have sustained favorable responses. Eighteen patients, aged 0.2-45 years, received an inhibitor as first-line treatment. All of these have had sustained favorable responses, with a median treatment duration of 2.5 years. Three patients with presumed isolated central nervous system/pituitary stalk histiocytosis had stabilization or improvement of their disease. Overall, inhibitors were well tolerated. Five patients with single-system LCH discontinued therapy and remain off therapy without recurrence. In contrast, all four patients with multisystem disease who discontinued therapy had to restart treatment. Our data suggest that children suffering from histiocytoses can be treated safely and effectively with dabrafenib or trametinib. Additional studies are, however, needed to determine the long-term safety and optimal duration of therapy.
Topics: Child; Humans; Histiocytosis, Langerhans-Cell; Imidazoles; Oximes; Mutation; Proto-Oncogene Proteins B-raf; Pyridones; Pyrimidinones
PubMed: 37731389
DOI: 10.3324/haematol.2023.283295 -
BMC Pediatrics Apr 2019Juvenile xanthogranuloma (JXG) belongs to the heterogeneous group of non-Langerhans cell histiocytosis and is caused by an accumulation and proliferation of macrophages.... (Review)
Review
BACKGROUND
Juvenile xanthogranuloma (JXG) belongs to the heterogeneous group of non-Langerhans cell histiocytosis and is caused by an accumulation and proliferation of macrophages. In the majority of cases JXG is a disorder of early childhood presenting during the first 2 years of life. The typical presentation is a solitary reddish or yellowish skin papule or nodule with spontaneous regression and no need for treatment.
CASE PRESENTATION
Two infants with an atypical presentation of JXG, one with multiple blueberry muffin rash-like skin lesions and the other with severe multi-systemic involvement, are reported. Diagnosis was established by skin biopsy including histological work-up and immunostaining, where markers for macrophages (CD68 and CD163) exhibited significant reactivity.
CONCLUSION
JXG is the most common of the non-Langerhans cell histiocytosis. The typical presentation is a solitary skin lesion. The purpose of this report is to familiarize paediatricians with an unusual variant of this entity in order to facilitate early diagnosis and raise awareness for possible visceral complications and associated medical conditions.
Topics: Antineoplastic Combined Chemotherapy Protocols; Biopsy, Needle; Female; Follow-Up Studies; Humans; Immunohistochemistry; Infant; Magnetic Resonance Imaging; Male; Risk Assessment; Time Factors; Treatment Outcome; Watchful Waiting; Xanthogranuloma, Juvenile
PubMed: 31018833
DOI: 10.1186/s12887-019-1490-y