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Plastic and Reconstructive Surgery.... Jul 2021We treated a patient with juvenile xanthogranuloma on the upper lip. A yellow, elastic, hard tumor on the upper lip was evident from birth, which gradually increased in...
We treated a patient with juvenile xanthogranuloma on the upper lip. A yellow, elastic, hard tumor on the upper lip was evident from birth, which gradually increased in size. The patient was examined at our department at the age of 7 months, at which time the mass extended from the upper lip to the nasal cavity and measured approximately 1 cm. There was a risk that the mass might obstruct the nasal cavity, and an incisional biopsy was conducted to obtain a definitive diagnosis. In histopathological testing, the patient was diagnosed with a juvenile xanthogranuloma. Part of the mass still remains on the upper lip, but has not increased in size during postoperative monitoring. Juvenile xanthogranuloma on the upper lip is extremely rare, and to the best of our knowledge, this is only the fourth case to be reported in the plastic surgery literature in English. In most cases, juvenile xanthogranuloma regresses spontaneously, and unnecessary surgery is to be avoided. The possibility of juvenile xanthogranuloma should always be considered for masses that increase in size in infants and young children, and it is important to reach a definitive diagnosis by skin biopsy.
PubMed: 34290944
DOI: 10.1097/GOX.0000000000003712 -
Postepy Dermatologii I Alergologii Jun 2019
PubMed: 31333355
DOI: 10.5114/ada.2019.85643 -
Pediatric Dermatology Sep 2018Congenital juvenile xanthogranulomas are infrequently described in the medical literature. We report three previously unpublished cases and systematically review the... (Review)
Review
BACKGROUND/OBJECTIVES
Congenital juvenile xanthogranulomas are infrequently described in the medical literature. We report three previously unpublished cases and systematically review the literature to better characterize this variant.
METHODS
We surveyed English-language articles indexed in MEDLINE (1951-March 2017) and EMBASE (1974-March 2017) for cases of congenital-onset juvenile xanthogranulomas confirmed on histopathology. Cases were divided into two categories: cutaneous only or cutaneous with systemic involvement.
RESULTS
We identified 31 cases of congenital juvenile xanthogranulomas involving only the skin and 16 cases with systemic involvement. Congenital juvenile xanthogranulomas involving only the skin were large (> 3 cm), presented with various clinical morphologies, and showed signs of regression by 1 year of age. Atypical clinical presentations included exophytic tumors, infiltrative plaques, agminated plaques, and subcutaneous tumors. Complications included ulceration and anetodermic scarring. Infants with congenital cutaneous juvenile xanthogranulomas who also had systemic involvement typically had multiple cutaneous tumors and hepatic involvement and showed signs of spontaneous regression independent of treatment.
CONCLUSIONS
The medical literature supports that congenital juvenile xanthogranulomas behave in a fashion similar to that of juvenile xanthogranulomas of infancy or childhood. Congenital cutaneous juvenile xanthogranulomas with or without systemic involvement spontaneously regress. The varied clinical presentations in the skin may lead to misdiagnosis, inappropriate examination, and unnecessary treatments. Infants with multiple congenital cutaneous juvenile xanthogranulomas should be evaluated for systemic involvement, with a particular focus on the liver, because 72.2% of these children were found to have hepatic juvenile xanthogranulomas.
Topics: Female; Humans; Infant; Male; Skin; Xanthogranuloma, Juvenile
PubMed: 29999209
DOI: 10.1111/pde.13544 -
[Rinsho Ketsueki] the Japanese Journal... 2022Histiocytosis is a syndrome characterized by fever, pain, and other symptoms caused by the neoplastic proliferation of atypical cells of the macrophage-dendritic cell...
Histiocytosis is a syndrome characterized by fever, pain, and other symptoms caused by the neoplastic proliferation of atypical cells of the macrophage-dendritic cell lineage and surrounding inflammatory cell infiltration. The diagnosis is confirmed by the immune-histological features of biopsied specimens. From this viewpoint, histiocytosis is divided into Langerhans cell histiocytosis (LCH) (CD1a+/CD207+/CD14±/CD68±) and non-LCH, including Erdheim-Chester disease (ECD), juvenile xanthogranuloma, and Rosai-Dorfman disease (CD1a-/CD207-/CD14++/CD68++). Genetic alterations occur at the cellular level in hematopoietic progenitor cells, and environmental factors are assumed to influence tumor development. The genomic analysis of the lesions involved revealed driver mutations primarily in the MAPK pathway, including BRAF-V600E, and the PI3K pathway. This strongly suggests that abnormalities in these signaling pathways play a role in pathogenesis. Steroids, vinca alkaloids, cytarabine, and cladribine are commonly used to treat histiocytosis. However, efficacy has not been fully confirmed in any of them. In recent years, the efficacy of BRAF inhibitors and MEK inhibitors has been reported mainly in therapy-resistant and refractory cases of LCH and ECD.
Topics: Erdheim-Chester Disease; Histiocytosis, Langerhans-Cell; Humans; Mutation; Phosphatidylinositol 3-Kinases; Protein Kinase Inhibitors; Proto-Oncogene Proteins B-raf; Xanthogranuloma, Juvenile
PubMed: 35662158
DOI: 10.11406/rinketsu.63.363 -
Current Opinion in Pediatrics Aug 2015Common genetic disorders such as neurofibromatosis type I (NF1), tuberous sclerosis, basal cell nevus syndrome (BCNS), incontinentia pigmenti, and X-linked ichthyosis... (Review)
Review
PURPOSE OF REVIEW
Common genetic disorders such as neurofibromatosis type I (NF1), tuberous sclerosis, basal cell nevus syndrome (BCNS), incontinentia pigmenti, and X-linked ichthyosis have recognizable, cutaneous features. In children, cases often present without a prior diagnosis. This review highlights new information about diagnostic signs and care of affected patients.
RECENT FINDINGS
Disruption of key regulatory pathways causes disorders such as BCNS, NF1, and tuberous sclerosis. The discovery of associated mutations in these pathways has led to molecular targeted therapies. For example, use of drugs such as vismodegib in BCNS and rapamycin in tuberous sclerosis complex is being studied. Also, patient review has refined the diagnostic criteria for tuberous sclerosis and incontinentia pigmenti and expanded the phenotype of X-linked ichthyosis. Preimplantation genetic diagnosis for disorders such as NF1 and incontinentia pigmenti is available.
SUMMARY
Identification of nevus anemicus or juvenile xanthogranuloma in a young child may lead to an early diagnosis of NF1. Rapamycin offers noninvasive treatment for problematic skin lesions in pediatric patients with tuberous sclerosis. Providers can give early advice to affected families that reproductive technologies such as preimplantation genetic diagnosis are a consideration for future pregnancies.
Topics: Child; Child, Preschool; Early Diagnosis; Humans; Incontinentia Pigmenti; Infant; Neurofibromatosis 1; Skin Neoplasms; Tuberous Sclerosis
PubMed: 26164153
DOI: 10.1097/MOP.0000000000000245 -
AJNR. American Journal of Neuroradiology May 2016Juvenile xanthogranuloma is a non-Langerhans cell histiocytosis primarily affecting children. The purpose of this study was to characterize the imaging features of...
BACKGROUND AND PURPOSE
Juvenile xanthogranuloma is a non-Langerhans cell histiocytosis primarily affecting children. The purpose of this study was to characterize the imaging features of histologically confirmed pediatric head and neck juvenile xanthogranuloma.
MATERIALS AND METHODS
A retrospective review was performed of medical records and imaging of histologically confirmed head and neck juvenile xanthogranuloma.
RESULTS
Ten patients (6 girls, 4 boys) 1 month to 12 years of age were imaged with ultrasound only (n = 1), CT only (n = 2), CT and ultrasound (n = 1), MR imaging only (n = 3), or MR imaging and CT (n = 3). Masses were solitary in 9 patients and multiple in 1. Solitary masses were located in the external auditory canal, infra-auricular region, infratemporal fossa with intracranial extension, frontal scalp, and subperiosteal space eroding the calvaria and along the dura. One patient with disseminated disease had scalp-, calvarial-, and dural-based masses. Clinical presentation included a mass or alteration in function. On sonography, juvenile xanthogranuloma appeared hypoechoic. On contrast-enhanced CT, masses appeared homogeneous and isoattenuating with muscle and sometimes eroded bone. On MR imaging, compared with the cerebral cortex, the masses appeared hyper- or isointense on T1 and hypo- or isointense on T2, had decreased diffusivity, and enhanced homogeneously. Juvenile xanthogranuloma was not included in the differential diagnosis in any case.
CONCLUSIONS
Head and neck juvenile xanthogranuloma has varied manifestations. Mild hyperintensity on T1, hypointensity on T2 compared with the cerebral cortex, decreased diffusivity, and homogeneous enhancement are characteristic. Awareness of these features should prompt radiologists to include juvenile xanthogranuloma in the differential diagnosis of pediatric head and neck masses.
Topics: Child; Child, Preschool; Diagnosis, Differential; Female; Head; Humans; Infant; Infant, Newborn; Magnetic Resonance Imaging; Male; Multimodal Imaging; Neck; Retrospective Studies; Tomography, X-Ray Computed; Ultrasonography; Xanthogranuloma, Juvenile
PubMed: 26744443
DOI: 10.3174/ajnr.A4644 -
Journal of Pediatric Hematology/oncology Jun 2024Juvenile Xanthogranuloma (JXG) is a non-Langerhans cell histiocytosis, occurring mainly in infancy. With an extracutaneous lesion, its diagnosis is difficult, because of...
BACKGROUND
Juvenile Xanthogranuloma (JXG) is a non-Langerhans cell histiocytosis, occurring mainly in infancy. With an extracutaneous lesion, its diagnosis is difficult, because of a wide clinical spectrum. Here we demonstrate and characterize imaging features of 11 patients with JXG of the head and neck in various locations.
MATERIAL AND METHODS
We recorded clinical data and reviewed all imaging studies of 11 patients with JXG of the head and neck. Ultrasonography (US) alone was performed in 1 patient; MRI alone in 6 patients; US and MRI in 1 patient; and US, CT, and MRI in 3 patients. We evaluated the following characteristics in all studies: location and number of lesions, echogenicity and vascularization on US, density on CT, signal intensity on T1- and T2-weighted images, ADC and enhancement on MRI, and tumor boundaries and bone involvement.
RESULTS
Lesions were well-defined in 9 cases, and bone erosion was present in 2. On US, lesions were hypoechoic or hyperechoic and with or without vascularization. On CT, lesions were hyper-dense, with no calcification. On MRI, lesions were mildly hyper-intense or iso-intense on T1-weighted images in 8 of 9 patients, hypo-intense on T2-weighted images in 7 of 10, low ADC in 7 of 9, and enhancement in 7 of 7.
CONCLUSIONS
The diagnosis of extra cutaneous JXG may be proposed, with the following suggestive criteria: age < 1 year, well-defined lesion, mild hyper-intensity on T1-weighted images, hypo-intensity on T2-weighted images, low ADC, enhancement, and possible adjacent bone involvement.
PubMed: 38832444
DOI: 10.1097/MPH.0000000000002872 -
Hematology/oncology Clinics of North... Oct 2015The classification of the histiocytoses has evolved based on new understanding of the cell of origin as a bone marrow precursor. Although the pathologic features of the... (Review)
Review
The classification of the histiocytoses has evolved based on new understanding of the cell of origin as a bone marrow precursor. Although the pathologic features of the histiocytoses have not changed per se, molecular genetic information now needs to be integrated into the diagnosis. The basic lesions of the most common histiocytoses, their patterns in different sites, and ancillary diagnostics are now just one part of the classification. As more is understood about the cell of origin and molecular biology of the histiocytoses, future classifications will be refined.
Topics: Histiocytosis, Langerhans-Cell; Humans
PubMed: 26461144
DOI: 10.1016/j.hoc.2015.06.001 -
Actas Dermo-sifiliograficas Dec 2019
Topics: Child, Preschool; Fingers; Hand Dermatoses; Humans; Male; Skin Diseases, Papulosquamous; Xanthogranuloma, Juvenile
PubMed: 31130243
DOI: 10.1016/j.ad.2018.05.014 -
Ocular Immunology and Inflammation 2022To report a case an iris juvenile xanthogranuloma presenting with hypopyon.
PURPOSE
To report a case an iris juvenile xanthogranuloma presenting with hypopyon.
CASE REPORT
A 45-day-old infant was referred to our clinic for unilateral hypopyon. Slit-lamp examination revealed a 2 mm hypopyon in the left eye while visible areas of the iris were normal. Fundus examination was normal. Topical corticosteroids and antibiotics were initiated. The hypopyon regressed to 0.5 mm after 2 weeks of treatment. The now visible peripheral iris revealed an inferotemporal yellow-brown iris mass. Clinical findings were consistent with juvenile xanthogranuloma of the iris. The patient was referred to the pediatrics department which revealed no systemic involvement. Two months after total regression of hypopyon, the baby presented with a 3 mm spontaneous hyphema causing 50 mmHg intraocular pressure. The patient was followed with topical corticosteroids and antiglaucomatous drops until the hyphema was resolved.
CONCLUSION
ocular involvement, which is the most common extracutaneous 15 manifestation of juvenile xanthogranuloma, should be considered in the differential diagnosis of hypopyon and/or hyphema in young children.
Topics: Child; Humans; Child, Preschool; Xanthogranuloma, Juvenile; Iris
PubMed: 34228593
DOI: 10.1080/09273948.2021.1936077