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Child's Nervous System : ChNS :... Oct 2021Juvenile xanthogranuloma (JXG) is a type of non-Langerhans cell histiocytosis that most commonly manifests as a solitary cutaneous lesion of the head and neck in...
Juvenile xanthogranuloma (JXG) is a type of non-Langerhans cell histiocytosis that most commonly manifests as a solitary cutaneous lesion of the head and neck in children. Intracranial JXG is extremely rare. Although it is widely known that JXG skin lesions gradually disappear over time without treatment, treatment guidelines for intracranial JXG have not been established. It is very difficult to predict whether an intracranial lesion is JXG with only a pre-operative imaging work-up without pathologic confirmation. We report a case of the youngest, a 3-month-old male infant with an intracranial extra-axial mass with rapid growth for 2 months. Additionally, we suggest characteristic MRI findings for intracranial extra-axial JXG of a low T2 signal and a kidney bean shape.
Topics: Head; Humans; Infant; Magnetic Resonance Imaging; Male; Xanthogranuloma, Juvenile
PubMed: 33660104
DOI: 10.1007/s00381-021-05088-w -
Ophthalmic Plastic and Reconstructive... Apr 2024Juvenile xanthogranuloma (JXG) is a subtype of histiocytosis characterised histologically by foamy non-Langerhan cells with Touton giant cells. It typically manifests as...
PURPOSE
Juvenile xanthogranuloma (JXG) is a subtype of histiocytosis characterised histologically by foamy non-Langerhan cells with Touton giant cells. It typically manifests as a single self-limiting cutaneous nodule in the paediatric population. Orbital JXG is extremely rare, and its clinical course and management are not well understood or defined. Herein we present 3 cases of orbital JXG and provide a detailed literature review.
METHODS
Review of 3 cases with orbital JXG and literature review of all published cases.
RESULTS
Three presented cases demonstrate the heterogeneous clinical course of orbital JXG. Although centred around the use of steroids, there is neither robust evidence nor consensus on its management. The wider JXG literature is currently concentrated around the classification of JXG with respect to histiocytosis, especially the exclusion of extracutaneous JXG as separate diseases. This separation is based on clinical, histopathological, and molecular findings. It is unclear where orbital JXG best fits in this emerging classification of JXG.
CONCLUSION
Our review of the cases and literature on orbital JXG show that it may manifest with variable clinical course and its molecular pathogenic mechanism may be different to that of the cutaneous JXG.
PubMed: 38687290
DOI: 10.1097/IOP.0000000000002696 -
Radiology Case Reports May 2023Juvenile xanthogranuloma (JX) is a non-Langerhans cell histiocytosis. Although precipitating factors remain unclear, it has been described mainly in infancy and early...
Juvenile xanthogranuloma (JX) is a non-Langerhans cell histiocytosis. Although precipitating factors remain unclear, it has been described mainly in infancy and early childhood. The giant variant of JX is a rare form that presents in infancy, measures over 2 cm and tends to involute only partly. Herein, we report a very rare localization of a giant JX in the parotid gland, discovered at age 1 month in an infant of a twin pregnancy and studied with ultrasound and magnetic resonance imaging.
PubMed: 36923389
DOI: 10.1016/j.radcr.2023.01.103 -
BMC Pediatrics Apr 2021Systemic juvenile xanthogranuloma is a very rare disease typically presents as skin lesions with yellow papules or nodules and is sometimes fatal. We report a case of... (Review)
Review
BACKGROUND
Systemic juvenile xanthogranuloma is a very rare disease typically presents as skin lesions with yellow papules or nodules and is sometimes fatal. We report a case of congenital neonatal systemic juvenile xanthogranuloma with atypical skin appearance that made the diagnosis difficult.
CASE PRESENTATION
A preterm Japanese female neonate with prenatally diagnosed fetal hydrops in-utero was born with purpuric lesions involving the trunk and face. Since birth, she had hypoxemic respiratory failure, splenomegaly, anemia, thrombocytopenia, coagulopathy, and was transfusion dependent for red blood cells, fresh frozen plasma, and platelets. Multiple cystic lesions in her liver, part of them with vascular, were detected by ultrasound. A liver biopsy was inconclusive. A skin lesion on her face similar to purpura gradually changed to a firm and solid enlarged non-yellow nodule. Technically, the typical finding on skin biopsy would have been histiocytic infiltration (without Touton Giant cells) and immunohistochemistry results which then would be consistent with a diagnosis of systemic juvenile xanthogranuloma, and chemotherapy improved her general condition.
CONCLUSIONS
This case report shows that skin biopsies are necessary to detect neonatal systemic juvenile xanthogranuloma when there are organ symptoms and skin eruption, even if the skin lesion does not have a typical appearance of yellow papules or nodules.
Topics: Biopsy; Edema; Female; Humans; Infant, Newborn; Purpura; Skin; Xanthogranuloma, Juvenile
PubMed: 33823829
DOI: 10.1186/s12887-021-02632-0 -
Case Reports in Dermatology 2021Juvenile xanthogranuloma (JXG) is the most common type of non-Langerhans cell histiocytosis. JXG is a rare benign tumor, which may be present at birth or develop later....
Juvenile xanthogranuloma (JXG) is the most common type of non-Langerhans cell histiocytosis. JXG is a rare benign tumor, which may be present at birth or develop later. The classical form of JXG is characterized by a red-yellowish benign papule or nodule with predilection sites on the head, neck, and trunk, although lesions can appear on extremities or extracutaneous sites. In most cases there is only one lesion, whereas numerous papules or nodules may occur. Special forms of JXG such as mixed, giant, subcutaneous, eruptive, clustered, and plaque-like have been reported and associations between JXG and systemic diseases have been made. Diagnosis mainly relies on the clinical appearance, and histology usually can confirm the disease. Here we present a very rare case of symmetrical giant facial plaque-type juvenile xanthogranuloma (SGFP-JXG) and compare it with classical JXG, variations of JXG, and discuss the differential diagnosis. A 4-year-old Caucasian female presented with plaque-like lesions composed of yellowish confluent papules on both the cheeks. The histological evaluation revealed a histiocytic lesion with a formation of Touton giant cells and immunohistochemistry results confirmed the diagnosis of the SGFP-JXG. In comparison to classical JXG, the onset of SGFP-JXG sometimes occurs later and the spontaneous resolution period may be prolonged. No associated diseases and no systemic involvements were observed. Histopathology is required to differentiate this form of JXG from other histiocytosis. To the best of our knowledge, only four cases of SGFP-JXG have been reported in the literature so far.
PubMed: 34413740
DOI: 10.1159/000515151 -
American Journal of Ophthalmology Case... Mar 2018To report a case of juvenile xanthogranuloma involving the iris and skin that clincally was diagnosed with an obvious cutaneous lesion.
PURPOSE
To report a case of juvenile xanthogranuloma involving the iris and skin that clincally was diagnosed with an obvious cutaneous lesion.
OBSERVATIONS
A four month-old girl with hyphema and increased intraocular pressure of the left eye persisting for 2 weeks. A suspicious yellow-brown mass with nodular surface and traversed by irregular vascularization was noted on the inferior iris surface. Ultrasound biomicroscopy (UBM; 35 MHz) of the mass revealed multiple nodular irregular hyperreflective lesions in the peripheral iris. Using a biopsy of an obvious cutaneous abdominal skin lesion a diagnosis was made based on histopathological analyses. The biopsy showed dense dermal infiltrate consisting of foamy histiocytes. Additional stains revealed CD68 positivity and CD1a and S100 negativity. This mass revealed histopathologic features identical to juvenile xanthogranuloma and was concurrent with the iris lesion. Next-generation sequencing using Ion AmpliSeqTM Cancer Hotspot Panel revealed a missense mutation of (p.F386L).
CONCLUSION AND IMPORTANCE
The diagnosis of a xanthogranuloma of the iris with hyphema can be made easier in patients with obvious cutaneous lesions as described in our case. The significance of mutation in association with JXG is unknown and should be further investigated.
PubMed: 29468209
DOI: 10.1016/j.ajoc.2017.09.004 -
Cancer Control : Journal of the Moffitt... Oct 2014Dendritic and histiocytic cell neoplasms are rare malignancies that make up less than 1% of all neoplasms arising in lymph nodes or soft tissues. These disorders have... (Review)
Review
BACKGROUND
Dendritic and histiocytic cell neoplasms are rare malignancies that make up less than 1% of all neoplasms arising in lymph nodes or soft tissues. These disorders have distinctive disease biology, clinical presentations, pathology, and unique treatment options. Morphology and immunohistochemistry evaluation by a hematopathologist remains key for differentiating between these neoplasms. In this review, we describe tumor biology, clinical features, pathology, and treatment of follicular dendritic cell sarcoma, interdigitating dendritic cell sarcoma, indeterminate dendritic cell sarcoma, histiocytic sarcoma, fibroblastic reticular cell tumors, and disseminated juvenile xanthogranuloma.
METHODS
A literature search for articles published between 1990 and 2013 was undertaken. Articles are reviewed and salient findings are systematically described.
RESULTS
Patients with dendritic cell and histiocytic neoplasms have distinct but variable clinical presentations; however, because many tumors have recently been recognized, their true incidence is uncertain. Although the clinical features can present in many organs, most occur in the lymph nodes or skin. Most cases are unifocal and solitary presentations have good prognoses with surgical resection. The role of adjuvant therapy in these disorders remains unclear. In cases with disseminated disease, prognosis is poor and data on treatment options are limited, although chemotherapy and referral to a tertiary care center should be considered. Excisional biopsy is the preferred method of specimen collection for tissue diagnosis, and immunohistochemistry is the most important diagnostic method for differentiating these disorders from other entities.
CONCLUSIONS
Dendritic cell and histiocytic cell neoplasms are rare hematological disorders with variable clinical presentations and prognoses. Immunohistochemistry remains important for diagnosis. Larger pooled analyses or clinical trials are needed to better understand optimal treatment options in these rare disorders. Whenever possible, patients should be referred to a tertiary care center for disease management.
Topics: Dendritic Cells; Hematologic Neoplasms; Histiocytic Disorders, Malignant; Humans
PubMed: 25310210
DOI: 10.1177/107327481402100405 -
Graefe's Archive For Clinical and... Mar 2016Adult-onset xanthogranuloma (AOX) of the corneoscleral limbus is a rare inflammatory condition of unknown aetiology. Similar to limbal juvenile xanthogranuloma (JXG), it...
PURPOSE
Adult-onset xanthogranuloma (AOX) of the corneoscleral limbus is a rare inflammatory condition of unknown aetiology. Similar to limbal juvenile xanthogranuloma (JXG), it presents as a growing mass at the corneoscleral junction. Limbal AOX and JXG can lead to sight-threatening complications if not managed in a timely manner. This systematic review summarises the main clinical and histopathological features of limbal AOX/JXG and discusses the management of this uncommon disease.
METHODS
We performed a literature search in the MEDLINE database for all historical entries, using the search terms "limbus", "limbal" and "xanthogranuloma", and retrieved all articles reporting on limbal xanthogranuloma. After refining the search to articles relevant to limbal AOX, we were able to identify ten adult cases of limbal AOX and compare those with all reported cases of limbal JXG.
RESULTS
Clinically, AOX usually presents as an isolated smooth, yellowish, dome-shaped nodule at the corneoscleral junction, similar to an ocular presentation of JXG, with which it also shares similar histopathological features.
CONCLUSION
Limbal JXG and AOX may represent the same disease entity. Diagnosis relies on the clinical presentation, pathology and immunohistochemical profile. Spontaneous regression is unlikely, and thus prompt surgical intervention should be considered to prevent sight-threatening complications. Xanthogranuloma should be included in the differential diagnosis of corneoscleral limbal masses in patients of all age groups.
Topics: Adolescent; Adult; Aged; Child, Preschool; Corneal Diseases; Female; Granuloma; Humans; Limbus Corneae; Male; Middle Aged; Xanthogranuloma, Juvenile; Xanthomatosis; Young Adult
PubMed: 26794218
DOI: 10.1007/s00417-015-3261-2 -
Dermatologic Clinics Oct 2018The use of dermatoscopy to assist in the diagnosis of a variety of proliferative, pigmentary, inflammatory, infectious, congenital, and genetic cutaneous and skin... (Review)
Review
The use of dermatoscopy to assist in the diagnosis of a variety of proliferative, pigmentary, inflammatory, infectious, congenital, and genetic cutaneous and skin appendage disorders is constantly increasing, as it is effective, affordable, noninvasive, and quick to perform.
Topics: Adolescent; Child; Child, Preschool; Dermoscopy; Ectodermal Dysplasia; Histiocytosis, Langerhans-Cell; Humans; Infant; Infant, Newborn; Limb Deformities, Congenital; Mastocytosis, Cutaneous; Nevus, Sebaceous of Jadassohn; Pigmentation Disorders; Pseudoxanthoma Elasticum; Scalp Dermatoses; Skin Diseases; Xanthogranuloma, Juvenile
PubMed: 30201155
DOI: 10.1016/j.det.2018.05.012 -
Pediatric Neurosurgery 2021Xanthogranuloma of the sellar region is a rare benign lesion, and there are few cases reported in children. Its histogenesis is controversial, and it is difficult to... (Review)
Review
INTRODUCTION
Xanthogranuloma of the sellar region is a rare benign lesion, and there are few cases reported in children. Its histogenesis is controversial, and it is difficult to strictly differentiate it from craniopharyngioma (CP), Rathke's cleft cyst, or pituitary adenoma.
CASE PRESENTATION
A 16-year-old boy presented with a rare xanthogranuloma of the sellar region after complaining of retardation of growth 5 years previously. The ophthalmologic evaluation revealed no visual field disturbance. Endocrinological examination revealed hypopituitarism. Magnetic resonance imaging showed an intrasellar mass extending into the suprasellar region and compressing the optic chiasma, which appeared mixed signals on T1-weighted images. Endonasal transsphenoidal resection of the tumor was performed. Histological analysis of the tumor sections demonstrated granulomatous tissue with cholesterol clefts, hemosiderin deposits, fibrous tissues, multinucleated giant cells, and lymphocyte. Thus, the tumor was pathologically diagnosed as xanthogranuloma of the sellar region, which is different from adamantinomatous CP. There was no epithelial tissue in any part of the tumor including tumor capsule but have focal necrosis and calcification. His endocrinological dysfunction did not recover, so a hormonal replacement was continuously required.
CONCLUSION
Xanthogranuloma of the sellar region is a rare entity but must be considered in the differential diagnosis of lesions of the sellar region, even in pediatric population. We should think about this disease when dealing with children with stunted growth accompanied by a long medical history. Our case demonstrates the natural progression of the disease, suggesting that xanthogranuloma of the sellar region without epithelial components may be an independent disease.
Topics: Adolescent; Child; Craniopharyngioma; Humans; Hypopituitarism; Magnetic Resonance Imaging; Male; Pituitary Neoplasms; Sella Turcica; Xanthogranuloma, Juvenile
PubMed: 34192694
DOI: 10.1159/000515517