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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 -
Neuro-Chirurgie Sep 2023Juvenile xanthogranuloma (JXG) is a rare type of non-Langerhans cell histiocytosis. Its systemic form affects 4% of patients. Lesions in the Central Nervous System (CNS)... (Review)
Review
Juvenile xanthogranuloma (JXG) is a rare type of non-Langerhans cell histiocytosis. Its systemic form affects 4% of patients. Lesions in the Central Nervous System (CNS) occur in 2% of systemic cases. Sellar JXG should be one of the differential diagnoses for sellar lesions in young. This is a 15-year-old patient with non-specific headache, progressive visual loss and magnetic resonance imaging showing sellar lesion with suprasellar extension. The patient underwent microsurgery by pterional craniotomy with partial resection of the tumor. Pathology evidenced JXG. It progressively evolved with impairment of neuroendocrine functions, new lesions in different CNS locations and death two years after diagnosis. Sellar JXG without cutaneous manifestations is rare. There are no specific findings of the disease. Diagnosis requires additional tests, being defined by pathological analysis. Total resection presents a greater potential control comparing to partial resection. Even so, some patients may have progressive disease with poor clinical outcome.
Topics: Adolescent; Humans; Diagnosis, Differential; Headache; Magnetic Resonance Imaging; Xanthogranuloma, Juvenile
PubMed: 37482184
DOI: 10.1016/j.neuchi.2023.101472 -
Canadian Journal of Ophthalmology.... Jun 1983Three infants with juvenile xanthogranuloma are described. Of the two with ocular involvement, one responded to topical corticosteroid and mydriatic therapy and the...
Three infants with juvenile xanthogranuloma are described. Of the two with ocular involvement, one responded to topical corticosteroid and mydriatic therapy and the other to irradiation. The third had skin lesions alone. In the first case new histologic findings were made: lipid vacuoles were observed, by light and electron microscopy, in smooth muscle cells of erector pili and in Schwann cells of small nerves. These findings, along with the detection of lipid vacuoles in mast cells, support the concept that the condition results from local tissue injury that evokes a histioxanthomatous response. Treatment of juvenile xanthogranuloma should be tailored to the individual case and ranges from no active intervention (when there are skin lesions alone or ocular involvement limited to the eyelid or the epibulbar tissue) to a combination of corticosteroid therapy, irradiation and surgery (when there are iris lesions, which rarely resolve spontaneously and may have serious complications). A trial of topical corticosteroid therapy alone in uncomplicated cases is suggested since it was curative in one of the cases presented here.
Topics: Conjunctiva; Glucocorticoids; Humans; Infant; Iris; Male; Microscopy, Electron; Skin; Uveal Diseases; Vacuoles; Xanthogranuloma, Juvenile
PubMed: 6192889
DOI: No ID Found -
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 -
Revista Paulista de Pediatria : Orgao... 2019To report a rate case of Juvenile xanthogranuloma in a newborn infant.
OBJECTIVE
To report a rate case of Juvenile xanthogranuloma in a newborn infant.
CASE DESCRIPTION
We present the case of a 31-week preterm newborn with multiple skin lesions whose clinical, histological and immunohistochemical findings allowed the diagnosis of juvenile xanthogranuloma. Currently, the patient has nine months-old, and there is no aggravation of the skin lesions or evidence of extra-cutaneous involvement, particularly ophthalmic.
COMMENTS
Juvenile xanthogranuloma is a rare and benign condition, included in the vast group of non-Langerhans histiocytosis. It typically occurs in the pediatric age and may have a neonatal presentation. It affects predominantly the skin, in the form of papules or yellow and/or erythematous nodules and could be asymptomatic, multiple or solitary. Extra-cutaneous involvement, is more common in toddlers and when multiple lesions are present. The eye is the most affected site. We highlight this clinical case by its presentation in the neonatal period and in the form of multiple lesions, which bestows an increased risk of extra-cutaneous involvement, although this has not yet been verified.
Topics: Biopsy; Diagnosis, Differential; Gestational Age; Humans; Immunohistochemistry; Infant; Male; Patient Care; Xanthogranuloma, Juvenile
PubMed: 30810696
DOI: 10.1590/1984-0462/;2019;37;2;00013 -
European Journal of Dermatology : EJD 2008
Review
Topics: Cheek; Child, Preschool; Diagnosis, Differential; Humans; Male; Xanthogranuloma, Juvenile
PubMed: 18424382
DOI: 10.1684/ejd.2008.0360 -
BMC Research Notes Mar 2014Juvenile xanthogranuloma is a rare disorder which may be present at birth, or appears in infancy. It can also occur in adults of all ages; appears with lesions that may... (Review)
Review
BACKGROUND
Juvenile xanthogranuloma is a rare disorder which may be present at birth, or appears in infancy. It can also occur in adults of all ages; appears with lesions that may be solitary or multiple nodules several millimeters in diameter. The predilection sites are head and neck, but it may occur on the extremities and trunk also. There can also be involved internal organs such as lung, kidney, gastrointestinal tract, etc. The most frequent extracutaneous location is the eye.
CASE PRESENTATION
We report a case of juvenile xanthogranuloma in a male child with onset in the fourth month of life. He presented with a nodule 8 millimeters in diameter, tan-orange in color, ulcerated in the centre, located on the left corner of the left eye. A biopsy without total excision was performed. After the biopsy, the nodule enlarged to 1.5 cm in diameter and became haemorrhagic. The histologic evaluation and immunohistochemistry analysis resulted in the diagnosis of juvenile xanthogranuloma. For aesthetic reasons the nodule was removed by surgical resection.
CONCLUSION
Juvenile xanthogranuloma is on a spectrum of histiocytic disorders, which is necessary to differentiate from maligniances in childhood by biopsy.
Topics: Antigens, CD; Antigens, Differentiation, Myelomonocytic; Biopsy; Diagnosis, Differential; Humans; Immunohistochemistry; Infant; Male; S100 Proteins; Skin; Xanthogranuloma, Juvenile
PubMed: 24666806
DOI: 10.1186/1756-0500-7-174 -
Archives of Ophthalmology (Chicago,... Mar 1998Juvenile xanthogranuloma is a self-limited skin disorder of young children that uncommonly affects the eye. Juvenile xanthogranuloma has been described in adults, but... (Review)
Review
Juvenile xanthogranuloma is a self-limited skin disorder of young children that uncommonly affects the eye. Juvenile xanthogranuloma has been described in adults, but reported intraocular involvement is extremely rare. We report a case of juvenile xanthogranuloma diagnosed in a 25-year-old man who was seen with nontraumatic hyphema and iridocyclitis. Diagnosis was made from a biopsy specimen obtained from a suspicious skin lesion. Topical and systemic steroids, radiation therapy, and finally immunosupression were required to eliminate the iris tumor clinically and resolve the patient's recurrent symptoms.
Topics: Adult; Combined Modality Therapy; Humans; Hyphema; Immunosuppressive Agents; Iridocyclitis; Iris Diseases; Male; Methotrexate; Xanthogranuloma, Juvenile
PubMed: 9514494
DOI: 10.1001/archopht.116.3.377 -
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 -
Head and Neck Pathology Jun 2022Juvenile xanthogranuloma (JXG) is the most common form of non-Langerhans cell histiocytosis and oral mucosal involvement is exceedingly rare. Histiocytic disorders... (Review)
Review
Juvenile xanthogranuloma (JXG) is the most common form of non-Langerhans cell histiocytosis and oral mucosal involvement is exceedingly rare. Histiocytic disorders harbor activating mutations in MAPK pathway, including the report of BRAF V600E in JXG of extracutaneous site. However, no information is available for oral JXG. Herein, the clinicopathological and immunohistochemical features of five new oral JXG were evaluated in conjunction with literature review. Also, we assessed the BRAF V600E in oral samples. Five oral JXG were retrieved from pathology archives. Morphological and immunohistochemical analyses were performed. The BRAF V600E status was determined with TaqMan allele-specific qPCR. The series comprised of three female and two male patients, most of them adults, with a median age of 39 years (range 13-68 years). Clinically, the lesions appeared as asymptomatic solitary nodules, measuring until 2.5 cm, with more incident to the buccal mucosa. Morphologically, most of the cases presented classical histological features of JXG, with histiocytic cells consistent with the non-Langerhans cell immunophenotype. BRAF V600E was not detected in the cases tested. This is the first and largest published series of oral JXG affecting adults and a Brazilian population. The molecular pathogenesis of oral JXG remains unknown. Clinicians and pathologists must recognize JXG to avoid misdiagnoses with oral benign or malignant lesions.
Topics: Adolescent; Adult; Aged; Brazil; Female; Humans; Male; Middle Aged; Mutation; Proto-Oncogene Proteins B-raf; Xanthogranuloma, Juvenile; Young Adult
PubMed: 34414559
DOI: 10.1007/s12105-021-01373-x