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Survey of Ophthalmology 2004Juvenile xanthogranuloma is a benign histiocytic cutaneous disorder mainly occurring in infants which may affect the eye. Ocular manifestations usually present in the... (Review)
Review
Juvenile xanthogranuloma is a benign histiocytic cutaneous disorder mainly occurring in infants which may affect the eye. Ocular manifestations usually present in the form of iris lesions with secondary hyphema and glaucoma, but juvenile xanthogranuloma may also present as a corneoscleral limbal mass. We present the case of an 18-month-old female infant with ocular juvenile xanthogranuloma occurring as a corneoscleral limbal mass without associated cutaneous or systemic findings. The limbal mass lesion was excised by lamellar dissection and histopathological studies revealed histiocytes admixed with lymphocytes, plasma cells, and eosinophils; foreign body and Touton giant cells present throughout the specimen confirmed the diagnosis of juvenile xanthogranuloma. At 14-month follow-up, there was no recurrence of the limbal mass. The natural history of this uncommon ocular condition is discussed and the relevant literature reviewed. Juvenile xanthogranuloma should be considered in the differential diagnosis of any corneoscleral limbal mass lesion, particularly in children.
Topics: Corneal Diseases; Diagnosis, Differential; Female; Humans; Infant; Limbus Corneae; Scleral Diseases; Xanthogranuloma, Juvenile
PubMed: 15530947
DOI: 10.1016/j.survophthal.2004.08.004 -
Pediatric Dermatology 2013Clustered or agminated juvenile xanthogranuloma (JXG) is an unusual form of JXG characterized by multiple reddish-brown or yellowish papules and nodules in a coalescent...
Clustered or agminated juvenile xanthogranuloma (JXG) is an unusual form of JXG characterized by multiple reddish-brown or yellowish papules and nodules in a coalescent pattern. We report a case of clustered JXG involving the left lower back of a 5-month-old boy.
Topics: Back; Biopsy; Diagnosis, Differential; Humans; Infant; Male; Skin; Xanthogranuloma, Juvenile
PubMed: 22957538
DOI: 10.1111/j.1525-1470.2012.01851.x -
Seminars in Ophthalmology 2006Juvenile xanthogranuloma (JXG) is a benign histiocytic skin disorder mainly encountered during infancy. Approximately 10% of cases exhibit ocular manifestations leading... (Review)
Review
Juvenile xanthogranuloma (JXG) is a benign histiocytic skin disorder mainly encountered during infancy. Approximately 10% of cases exhibit ocular manifestations leading to serious complications. Specifically, secondary glaucoma can result in severe and blinding eye disease. We present a case of a two-month-old female with JXG related glaucoma in order to demonstrate the classic presentation and the problems commonly encountered in treating this disease. The natural history, pathogenesis, and treatment of the condition are then discussed and the pertinent literature reviewed. JXG should be considered in any case of unilateral glaucoma that presents in infancy.
Topics: Betamethasone; Dexamethasone; Drug Therapy, Combination; Female; Glaucoma; Glucocorticoids; Gonioscopy; Humans; Infant; Injections; Intraocular Pressure; Xanthogranuloma, Juvenile
PubMed: 16912017
DOI: 10.1080/08820530500351769 -
Journal of Cutaneous Pathology Jul 2018Juvenile xanthogranuloma (JXG) is a non-Langerhans cell histiocytosis (non-LCH) affecting normolipemic infants and children most frequently in the first year of life,... (Review)
Review
Juvenile xanthogranuloma (JXG) is a non-Langerhans cell histiocytosis (non-LCH) affecting normolipemic infants and children most frequently in the first year of life, often showing spontaneous regression within 3 to 6 years. Classic JXG is characterized by a yellowish asymptomatic papule or nodule, often located in the skin of the head, neck and upper trunk. Oral JXG has been reported, but is rare. Histologically, JXG is composed mainly of an infiltrate of macrophages with a variable degree of lipidization (foamy macrophages), and (most of the time) scattered Touton-type giant cells. Because of the rarity of oral lesions and possible variations in the clinical and histological presentation, the correct diagnosis can be challenging, requiring a careful clinical and histopathological evaluation with adjuvant immunohistochemical studies. Our review of the English-language literature disclosed 33 cases of oral JXG, including this case report. The purpose of this study is to present a new case of this uncommon entity as well as to review and discuss its main clinicopathologic features and immunohistochemical findings.
Topics: Child, Preschool; Humans; Macrophages; Male; Mouth Diseases; Xanthogranuloma, Juvenile
PubMed: 29624716
DOI: 10.1111/cup.13152 -
Annals of Diagnostic Pathology Jun 2022Juvenile xanthogranuloma (JXG) is the most common type of non-Langerhans cell histiocytosis whose cell of origin, etiology and pathogenesis are not fully understood. We...
BACKGROUND
Juvenile xanthogranuloma (JXG) is the most common type of non-Langerhans cell histiocytosis whose cell of origin, etiology and pathogenesis are not fully understood. We aimed to provide an update on histopathologic and immunophenotypic profile of this well-characterized entity whose relationship to the other histiocytoses has received renewed attention in light of recent molecular genetic studies.
MATERIALS AND METHODS
A retrospective review of all the cases with the pathologic diagnosis of "xanthogranuloma" was performed on our archives from 1989 to 2019.
RESULTS
A total of 525 patients with 547 lesions diagnosed as JXG were identified with the median age of 4.5 years, a male predominance (M:F ratio 1.3:1) and a predilection for the head and neck region (40.8%). Cutaneous lesions comprised 76.8% cases and another 15.7% presented within soft tissues. The most common non-soft tissue, extracutaneous lesions included the brain (2.6%), and lungs (1.8%). Three basic histopathologic patterns were identified: early classic (EJXG) (14.2%), classic (CJXG) (45.3%), and transitional JXG (TJXG) (40.5%). Multinucleated giant cells, either Touton or non-Touton, were most frequently present in CJXG followed by TJXG. Mitosis was rare (<1/10 high-power field) among different patterns. There was an association among the patterns and lymphocytic infiltrates (P = 0.036), and presence of Touton or non-Touton giant cells (P < 0.001 for both) but not for mitotic count (P = 0.105) or eosinophilic infiltrates (P = 0.465). Additionally, there was a correlation between age groups and presence of non-Touton giant cells (P = 0.012) but not for Touton cells (P = 0.127). We have demonstrated that immunophenotypic expression of the lesion was not associated with age at diagnosis nor morphologic pattern: factor XIIIa 192/204 (94.1%), CD11c 75/77 (97.4%), CD4 82/84 (97.6%), CD68 200/201 (99.5%), CD163 15/15 (100%), CD1a 1/110 (0.9%), S-100 48/152 (31.6%), CD31 15/21 (71.4%), and vimentin 104/105 (99.0%).
CONCLUSION
We have documented in a substantial series of cases of JXG that there is a correlation between one of the three basic histopathologic patterns with age at diagnosis, but with a consistent immunophenotype among the three patterns. Considering sensitivity and specificity rates, we suggest that a combination of CD11c, CD4, CD1a and either CD163 (preferred) or CD68 stains provides more specific diagnostic yield in the differentiation of JXG from other histiocytic disorders. JXG is also discussed in terms of its relationship and distinction from other similar histiocytic disorders in the context of MAPK/ERK pathway mutations.
Topics: Adult; Child, Preschool; Female; Hematologic Neoplasms; Histiocytes; Humans; Male; Retrospective Studies; S100 Proteins; Skin Neoplasms; Xanthogranuloma, Juvenile
PubMed: 35378409
DOI: 10.1016/j.anndiagpath.2022.151940 -
Dermatologic Therapy Jan 2022
Topics: Adult; Humans; Methotrexate; Neoadjuvant Therapy; Xanthogranuloma, Juvenile
PubMed: 34761843
DOI: 10.1111/dth.15200 -
BMC Pediatrics Feb 2022Juvenile xanthogranuloma (JXG) is a kind of non-Langerhans cell histiocytosis, usually with skin lesions as the main manifestation. It rarely occurs in other tissues or...
BACKGROUND
Juvenile xanthogranuloma (JXG) is a kind of non-Langerhans cell histiocytosis, usually with skin lesions as the main manifestation. It rarely occurs in other tissues or organs and even more rarely is it found in the skull. Here, we report a case of xanthogranuloma derived from the temporal bone that was not present in any other parts of the body.
CASE PRESENTATION
A 15-year-old boy had an unaccountable right migraine for 7 months. A mass with tenderness was located behind his right ear. The mass gradually increased in size, and his headache continued. Eventually, he came to our hospital for treatment. A computed tomography (CT) scan and magnetic resonance imaging (MRI) revealed a cystic solid mass in the right temporo-occipital region with skull destruction. The clinical diagnosis was haemangiopericytoma and skull-derived tumour. Haematological and biochemical results were as follows: alanine aminotransferase (ALT) 7 U/L; aspartate aminotransferase (AST) 12 U/L; basophil percentage (BASO%) 1.2%; normal coagulation. The patient was successfully treated with total surgical resection of the tumour. Postoperative histopathology examination showed xanthogranuloma, and his prognosis after surgery was good.
CONCLUSIONS
Because JXG rarely occurs in the skull and lacks typical imaging findings, an accurate diagnosis is difficult. The diagnosis of this disease mainly depends on pathological examination and immunohistochemistry. If feasible, many intracranial lesions can be cured through complete resection.
Topics: Adolescent; Head; Humans; Magnetic Resonance Imaging; Male; Temporal Bone; Tomography, X-Ray Computed; Xanthogranuloma, Juvenile
PubMed: 35151291
DOI: 10.1186/s12887-022-03150-3 -
Pediatric Blood & Cancer Oct 2010Juvenile xanthogranuloma was diagnosed in two infants aged 8 and 2 months with skin lesions, hepatosplenomegaly, and pancytopenia. Disease control was not achieved with... (Review)
Review
Juvenile xanthogranuloma was diagnosed in two infants aged 8 and 2 months with skin lesions, hepatosplenomegaly, and pancytopenia. Disease control was not achieved with first-line vinblastine-steroid-VP16 combination therapy. Two courses of 2-chlorodeoxyadenosine (2CDA) (0.3 mg/kg) and cytosine arabinoside (AraC) (1 g/m(2)) were then administered for 5 days and were followed, after hematological recovery, by maintenance therapy. Both patients had normal complete blood cell counts and no signs of JXG, respectively, 31 and 24 months after diagnosis.
Topics: Cladribine; Cytarabine; Drug Therapy, Combination; Female; Hematologic Diseases; Humans; Infant; Male; Xanthogranuloma, Juvenile
PubMed: 20589639
DOI: 10.1002/pbc.22629 -
Pediatric Dermatology 2014A 5-month-old boy had erythematous nodules over the left side of his trunk with a segmental arrangement since birth. Histopathologic examination revealed sheets of foamy...
A 5-month-old boy had erythematous nodules over the left side of his trunk with a segmental arrangement since birth. Histopathologic examination revealed sheets of foamy histiocytes infiltrating the dermis and subcutaneous fat, admixed with multinucleated giant cells and lymphocytes, making this an unusual case of juvenile xanthogranuloma appearing in a segmental distribution.
Topics: Biopsy; Diagnosis, Differential; Humans; Infant; Male; Xanthogranuloma, Juvenile
PubMed: 23889163
DOI: 10.1111/pde.12199 -
World Neurosurgery Nov 2018Juvenile xanthogranuloma (JXG) is a rare, non-Langerhans cell histiocytic disorder that primarily presents as multiple cutaneous lesions in young males. Solitary lesions... (Review)
Review
BACKGROUND
Juvenile xanthogranuloma (JXG) is a rare, non-Langerhans cell histiocytic disorder that primarily presents as multiple cutaneous lesions in young males. Solitary lesions in the spinal column are an especially rare presentation of this disease, and central nervous system involvement can portend a poor prognosis. We report an unusual case of an adult woman with an unresectable JXG of the lumbar spine. A review of the reported cases of thoracolumbar JXG and the current data regarding diagnosis and treatment are presented.
CASE DESCRIPTION
A 28-year-old woman presented with back pain and worsening lower extremity pain, numbness, and weakness. Magnetic resonance imaging demonstrated an enhancing lumbar mass. However, at surgery, no discrete mass was identified. Multiple roots were grossly enlarged, and electrical stimulation identified the L4 root with the most abnormal findings. Despite an attempt at debulking, most of the mass could not be safely removed. The patient experienced incomplete improvement of the symptoms postoperatively but elected to forgo chemotherapy. The 3-month follow-up imaging study showed active lumbar spinal disease, and imaging and follow-up examinations at 27 months revealed no changes. Her symptoms were satisfactorily controlled with conservative therapy.
CONCLUSIONS
JXG of the spine is a rare disease with nonspecific clinical and radiographic findings that can make it difficult to diagnose and dictates the use of immunohistochemical staining. If possible, total surgical resection will offer the best outcomes; however, other modalities such as chemotherapy can be viable alternatives or adjuvant modalities.
Topics: Adult; Diagnosis, Differential; Female; Humans; Lumbar Vertebrae; Peripheral Nervous System Diseases; Spinal Diseases; Spinal Nerve Roots; Xanthogranuloma, Juvenile
PubMed: 30096507
DOI: 10.1016/j.wneu.2018.07.273