Congenital isolated juvenile xanthogranuloma of the sole - a unique case report in a newborn.

Juvenile xanthogranuloma (JXG) is a rare, benign non-Langerhans cell histiocytosis that primarily affects the skin, with infrequent extracutaneous manifestations. Lesions typically emerge during early childhood and often resolve spontaneously, obviating the need for treatment. This paper details the case of a child diagnosed with a solitary JXG on the sole, necessitating surgical excision due to its functional impairment, specifically a delay in walking and weight bearing.

On the knowledge of solitary juvenile xanthogranuloma of the eyelid: a case series and literature review.

PURPOSE: Solitary eyelid juvenile xanthogranuloma (JXG) is extremely rare, and there is limited literature on its clinical features and treatment outcomes. Here, we present a case series and comprehensive review of the literature on patients with isolated eyelid JXG. METHODS: We systematically extracted data from our institution's records of isolated eyelid JXG cases and conducted a search for additional cases from the literature utilising the PubMed, Wanfang, and Chinese National Knowledge Infrastructure (CNKI) databases. Patients with JXG were analysed with respect to age, sex, clinical presentation, therapy, and outcome. Group comparisons were performed. RESULTS: Thirty-two patients (including 13 at our institution and 19 from prior publications) were identified. The median age at first presentation was higher in current patients than in the patients from the published cases (median 9 years, range 1.2 to 47.0 years; median 2 years, range 0.5 months to 46.0 years, respectively, P = 0.014). Of the patients who had known characteristics, no significant differences were observed between the two groups in terms of sex, affected eye, eyelid site, type of cutaneous involvement, or duration of symptoms (each P > 0.05). Seventeen (54.8%) patients were male. The most common lesion location was the upper eyelid (n = 10, 62.5%). Twenty-four (75.0%) cutaneous lesions had full-thickness skin involvement; 8 (25.0%) subcutaneous masses had a chalazion-like appearance. Histologically, the JXG masses were characterised by Touton giant cells with inflammatory cells. Additionally, there was no significant difference in treatment modalities between the two groups (P = 0.072), and 24 (75.0%) patients underwent surgical excision. The overall recurrence-free survival was 3.6 to 52.8 (median 27.0) months in the current patients. For published cases with available follow-up information, there was no recurrence in 10 cases and improvement in 1 case, with a median follow-up of 9.5 months. CONCLUSION: Solitary eyelid JXG is a rare clinical entity and should be included in the differential diagnosis of eyelid mass lesions in patients of all age groups. Surgical excision is often selected for efficient treatment and to obtain an excisional biopsy.

Solitary juvenile xanthogranuloma of temporal bone: a case report.

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.

Intracranial juvenile xanthogranuloma in an infant.

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.

Fatal Disseminated Multiple Intracranial Juvenile Xanthogranuloma without Cutaneous and Other Organ Involvement: A Rare Case Report.

INTRODUCTION: Juvenile xanthogranuloma (JXG) is a disorder of histiocytic proliferation that affects young children and usually presents as spontaneously regressing cutaneous lesions. JXG with systemic involvement is a rare entity associated with significant morbidity and mortality. Intracranial solitary lesions are uncommon, and when comorbid with multiple lesions of the central nervous system in young children, it has an extremely worse prognosis. CASE PRESENTATION: We have reported here an unusual case of a 6-year-old boy who initially presented with the complaints of headache, vomiting, seizure, and speech disorder without cutaneous and other organ involvement and a neurological tendency to sleep. Acute hydrocephalus was detected in his brain CT. As an emergency intervention, ventriculo-peritoneal shunt operation was performed on the patient. His postoperative MRI revealed a disseminated intracranial disease involving the extensive dural, sellar-suprasellar region, the orbit, and the brain parenchyma. The patient accordingly underwent a pterional approach for open biopsy and for the mass tissue diagnosis. Histopathology reports were consistent with JXG. Unfortunately, the patient succumbed to the disseminated disease within 2 months of the JXG diagnosis. CONCLUSION: JXG is a disorder that usually affects the skin. Intracranial lesion can be simple or have multiple involvement. This is a rare case of fatal disseminated multiple intracranial JXG without cutaneous and other organ manifestations. The presentation as a sellar-suprasellar, extensive dural, orbit, and parenchymal involvement at the time of diagnosis is unusual and rarely described in the literature.

Juvenile Xanthogranuloma of the Sellar Region with a 5-Year Medical History: Case Report and Literature 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.

Aggressive surgical management of recurrent intracranial juvenile xanthogranuloma: case report and review of the literature.

INTRODUCTION: Juvenile xanthogranuloma (JXG) with the central nervous system (CNS) involvement is a rare disease entity that remains poorly understood, especially when the condition develops following treatment for Langerhans cell histiocytosis (LCH). CASE REPORT: A 21-year-old man who was diagnosed with LCH at age 2, several years following which he developed signs and symptoms of CNS involvement. Magnetic resonance imaging (MRI) of the brain revealed JXG with bilateral choroid plexus involvement. As radiation therapy for the intraventricular masses proved unsuccessful, he underwent two surgical resections. In the following years, he developed another large JXG in the meninges, which was managed conservatively until he required surgery due to symptom progression. Twelve years after the first surgery, the patient is in stable condition with no evidence of recurrence. CONCLUSION: Due to the rarity of JXG in the CNS, optimal treatment strategies and the precise duration of therapy remain to be determined. Future studies should aim to develop an appropriate treatment algorithm for such rare cases.

Isolated Forefoot Juvenile Xanthogranuloma: Unique Case Study and Treatment in a Pediatric Patient.

Juvenile xanthogranuloma is a benign histiocytic cell proliferative disorder that occurs in early childhood. The most common presentation occurs within the first 2 years of life with papular or nodular changes to the skin on the head, neck or upper trunk. This case study documents the findings and treatment of a single solitary soft tissue mass in the forefoot of a 17-year-old patient. Unique to this case, the initial diagnosis of tuberous xanthoma was made and, with referral to an outside hospital, changed to a juvenile xanthogranuloma. In addition, unlike most juvenile xanthogranulomas in the literature, there was no superficial dermatological abnormality seen clinically. This change was not a dramatically different diagnosis, but further immunohistochemical staining was necessary for ultimate diagnosis. The soft tissue mass was self-contained to the deeper tissue layers and not the epidermis. The patient was followed for 12 months for possible recurrence and medical workup, without postoperative complications. The purpose of this study was to report on a unique finding and presentation of a xanthogranulomatous soft tissue mass in the forefoot of a pediatric patient.

Multimodel MRI features of an intracranial juvenile Xanthogranuloma.

Juvenile xanthogranuloma (JXG) is a benign, self-limiting histiocytic disorder of infancy and early childhood, usually presented as a single or multiple cutaneous lesions. The central nervous system is rarely affected by JXG. There were only a few reports of intracranial JXG cases which described its features on MR spectroscopy (MRS) and diffusion-weighted imaging (DWI), but its features on susceptibility-weighted imaging (SWI) and perfusion-weighted imaging (PWI) have not been reported yet. Here, we reported an intracranial JXG case which underwent multimodal MRI examinations including DWI, SWI, and PWI. The multimodal MRI provided a thorough insight into this disease and we found that intense enhancement and high perfusion may be important clues for the diagnosis.

A novel fixation technique using anterior C1 screw in a pediatric solitary cervical spinal juvenile xanthogranuloma.

PURPOSE: Juvenile xanthogranuloma (JXG) presenting as solitary vertebral body lesion is infrequently seen and usually limited to one or two levels. We report a case of an isolated JXG with extensive cervical spinal (bony and extradural) involvement in a 6-year-old child. There was a diagnostic dilemma as the radiologic and intraoperative picture resembled tuberculosis. The spinal reconstruction was also challenging due to involvement of multiple vertebral levels and necessitated an anterior C1 screw. METHODS: The lytic lesion was multicompartmental, involving the craniovertebral junction and the subaxial spine (till C6 vertebral body) and extending into the retropharyngeal space. Noticeably, an associated thoracic syringomyelia was also present. Near-total excision of the lesion and 360° spinal fixation was performed using fibular strut graft. The graft was cranially anchored to the C1 anterior arch, thereby sharing the load with the posterior occipito-cervical instrumentation in order to avoid a construct failure due to cantilever effect. RESULTS: At 12-month follow-up, the patient had good clinico-radiologic outcome with evidence of bony fusion and resolution of syrinx. CONCLUSION: The report highlights the diagnostic dilemma of JXG lesion on both the radiology and surgery and discusses the challenges in the management and the relevant literature. The described technique can be a viable option in pediatric tumors with extensive C2 vertebral body involvement. Occasionally, extradural compression can have associated syrinx formation and the primary treatment per se could tackle the underlying syringomyelia.

[A Pediatric Case of Xanthogranuloma in the Suprasellar Region Detected by a Severe Short Stature after 6 Years Growth Failure].

Here we report a case of a 12-year-old girl who was referred to our department because of marked short stature of more than -5 SD below the median. Although her growth failure began suddenly at 6 years of age, she never had an examination because she had no other symptoms. Brain MRI examination suggested a tumor in the suprasellar region, and endocrine examination revealed combined pituitery hormone deficiency due to the tumor. Before surgery, the supplementation with hydrocortisone and levothyroxine was initiated. The pathological diagnosis of the surgically removed tumor was xanthogranuloma. The pattern of her growth curve showed a growth failure with sudden onset, which is a typical pattern of short stature secondary to pituitary disfunction including growth hormone deficiency associated with brain tumors. This case suggests that growth failure could be the only symptom in pediatric cases with brain tumors. Improved awareness regarding the association of growth failure with brain tumors is needed for earlier diagnosis and treatment. Furthermore, the growth curves should be carefully evaluated in regular health examinations at school.

Firm, hyperpigmented subcutaneous nodule in the inguinal fold of an infant.

Subcutaneous juvenile xanthogranuloma (JXG) of the inguinal fold, an unusual location, was diagnosed in an infant. Subcutaneous JXG should be included in the differential diagnosis of subcutaneous nodules of the lower body, despite the absence of the characteristic yellowish hue usually associated with JXG.

Atypical Fibroxanthoma in a 13-Year-Old Guatemalan Girl with Xeroderma Pigmentosum.

Xeroderma pigmentosum (XP) is a rare, autosomal recessive disease involving a defect in DNA repair leading to the premature development of numerous aggressive cutaneous malignancies. Although atypical fibroxanthoma (AFX) is a neoplasm typically found in the setting of extensive sun exposure or therapeutic radiation, AFXs are rarely associated with children with XP. We report the case of a 13-year-old Guatemalan girl with the XP type C variant who developed one of the largest AFXs reported on a child's finger.

The clinical diagnosis and management options for intracranial juvenile xanthogranuloma in children: based on four cases and another 39 patients in the literature.

BACKGROUND: Juvenile xanthogranulomas (JXGs) are uncommon non-Langerhans cell histiocytic proliferations which occur most often in children. Rare cases of intracranial JXGs in children have been reported. The precise treatment strategy for intracranial JXG with high fatality is still unclear. METHOD: We present four cases of intracranial JXG with 2-6 years of follow-up. Review of the previous literature since 1980 revealed another 39 pediatric intracranial JXGs. RESULTS: Their clinical characteristics varied significantly. Most intracranial JXGs presented in young children (88 %). Males (72 %) were affected more often than females. The differential diagnosis included two important components: the magnetic resonance imaging (MRI) characteristics and the pathohistiocytic markers. Statistical analysis suggested that there were no significant association between resection of intracranial lesions, multiple intracranial lesions, systematic lesions and clinic outcome (p = 0.12, p = 0.13, p = 0.60 respectively). Also, the manifestation with multiple intracranial lesions did not have a significant association with systematic JXG (p = 0.26). CONCLUSIONS: We found no significant associations between clinic characteristics, surgical resection and outcome. When feasible, total surgical resection of intracranial lesion may be curative.

Ocular juvenile xanthogranuloma.

PURPOSE: To report the clinical and histopathologic characteristics and prognoses of three ocular juvenile xanthogranuloma (JXG) cases. CASE REPORTS: Three cases were included in this study. The first case involved a 5-year-old girl with an enlarging yellowish mass at the limbus with corneal involvement. Ultrasound biomicroscopy showed a poorly demarcated mass involving the underlying cornea and sclera. The mass was excised in combination with a lamellar keratoplasty procedure. No recurrence was seen at the 2-year follow-up. The second case involved a 2-year-old boy with an enlarging yellowish mass on the conjunctiva, without limbal involvement. The mass was excised with no recurrence noted 1 year later. The third case involved a 7-month-old girl with unilateral eye redness and photophobia combined with multiple orange-red, raised nodular lesions on the skin. Examination under general anesthesia revealed a gray-yellow mass in the inferior and temporal iridocorneal angles. The intraocular pressure and corneal diameter were normal. Examination using ultrasound biomicroscopy showed a high-level echo lump in the inferior and temporal angles. There was no treatment for this case. At the 1-year follow up, the eye symptoms had resolved and the skin lesions were flat. Histopathologic examinations were completed on all three cases. The presence of Touton giant cells in hematoxylin-eosin staining, positive CD68 staining, and negative S-100 and CD1a staining confirmed the diagnosis of JXG. CONCLUSIONS: We report three histopathologically confirmed ocular JXG cases involving the corneoscleral limbus, conjunctiva, and iris with angle involvement, respectively. Ultrasound biomicroscopy performed on two cases demonstrated no obvious division between the mass and the surrounding structures. The cases with ocular surface involvement were successfully treated by excision and the case with iris involvement spontaneously regressed without any treatment. Early excision may be the better choice for ocular surface lesions, especially when corneal involvement is a possibility.

Fatal juvenile xanthogranuloma presenting as a sellar lesion: case report and literature review.

INTRODUCTION: Juvenile xanthogranuloma (JXG) is a histiocytic condition in the spectrum of non-Langerhans histiocytosis that preferentially affects children. Rarely this condition can involve the central nervous system (CNS) with devastating consequences. METHODS: The authors report the unique case of an 11-year-old child who initially presented with a sellar lesion without evidence of the cutaneous stigmata typical of JXG. She was later discovered to have JXG following initial diagnosis of granulomatous hypophysitis, with development of widespread intracranial disease and subsequent neurological deterioration. She underwent subtotal resection of her sellar lesion followed by whole brain radiation and systemic chemotherapy; however, she succumbed to her disseminated disease within 1 month of the JXG diagnosis. CONCLUSIONS: This is a rare case of fatal disseminated intracranial JXG without cutaneous manifestations. Additionally, the initial presentation as a sellar lesion is particularly unusual and seldom described in the literature.

Juvenile xanthogranuloma: diverse presentations of noncutaneous disease.

Juvenile xanthogranulomas (JXGs) are benign cutaneous lesions of childhood that often spontaneously involute. They rarely present as a noncutaneous tumors. However, JXG tumors have been described in numerous noncutaneous anatomic sites, presenting with a variety of symptoms. The severity of symptoms and accurate preoperative diagnosis of JXG should determine operative and nonoperative treatment options of these uncommon, benign, and self-limiting tumors. We report 3 cases of symptomatic, noncutaneous JXG from disparate anatomic sites all treated with aggressive surgical resection.

Juvenile xanthogranulomas of the nervous system: A report of two cases and review of the literature.

Juvenile xanthogranulomas (JXG) are uncommon non-Langerhans cell histiocytic proliferations which arise most often in children. While most cases present as solitary cutaneous lesions, occasional cases involve extracutaneous sites. Rare examples of JXGs have been reported involving all levels of the neuroaxis. We present two cases of JXGs involving the nervous system, and review the literature. The first patient was a 14-year-old female with headaches and a mass involving the left trigeminal nerve; pathologic examination showed a JXG. At 11 months follow-up, after administration of systemic chemotherapy, the patient remained stable with residual tumor. The second patient was a 15-year-old female with leg weakness and numbness, who underwent complete surgical resection of a dural JXG. At eight months follow-up, she showed no evidence of tumor, and was able to walk without difficulty. Review of the literature revealed 38 previously published reports of JXGs involving the nervous system. The CNS was involved in the majority (75%) of cases. The clinical characteristics of JXGs arising in the CNS varied significantly from cases in the peripheral nervous system (PNS); CNS tumors occurred in younger patients, more often males, and were more likely to be associated with concurrent cutaneous and extra-nervous systemic lesions. The clinical outcomes were similar for CNS and PNS lesions, with the caveat that all three lethal JXGs occurred in the CNS. The clinical and radiologic presentation of JXGs is nonspecific, thus necessitating biopsy and pathologic examination to arrive at the diagnosis. The pathologic differential diagnosis includes a heterogeneous group of histiocytic proliferations; immunostaining for histiocytic markers CD68, factor XIIIa, and Fascin, and the absence of Birbeck granules and CD1a immunoexpression suggests the diagnosis of JXG. In many cases, total surgical resection is curative. However, some cases will require additional chemotherapy and/or radiotherapy.

Isolated juvenile xanthogranuloma in the larynx of a three-year-old child.

Juvenile xanthogranuloma (JXG) is a benign manifestation of non-Langerhans cell histiocytosis characterized by yellowish cutaneous nodules. Its occurrence in the larynx is very rare, but laryngeal JXG may cause severe respiratory distress. We report a patient with isolated laryngeal JXG treated by laryngomicrosurgery, and this is the first report of JXG extending to vocal fold. A 3-year-old girl presented with hoarseness and inspiration stridor. A bulky tumor was found in right glottic to subglottic region. Subtotal resection of the tumor was carried out by laryngomicrosurgery, and airway distress was diminished after the operation. In pathological examination, the resected specimen showed proliferation of histiocytic cells and spindle cells with Touton giant cells that are characterized by polynuclei or wreath nuclei and are known to appear in JXG but not in LCH. Immunohistochemistry of histiocytic cell markers demonstrated positivity for CD68, lysozyme, alpha1-anti-chymotrypsin, factor XIIIa and vimentin, and negativity for CD1a and S-100, leading to diagnosis of JXG, but not LCH. The patient was thus expected with benign prognosis, and additional resection of the tumor including vocal fold was not indicated in the initial treatment. Six weeks later, the JXG recurred and a second procedure using CO2 laser was needed. The tumor did not re-grow thereafter, and there was no residual voice handicap. Because of its favorable prognosis and tendency for spontaneous regression, JXG in the larynx needs to be considered carefully with regard to whether reduction surgery and/or tracheotomy are necessary, and thus precise diagnosis is required.