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.

[Giant and ulcerated juvenile xanthogranuloma: an atypical presentation in infants]. / Xantogranuloma juvenil gigante y ulcerado: una presentación atípica en lactantes.

Giant Juvenile Xanthogranuloma (GJXG) corresponds to an infrequent variant of Juvenile Xantho- granuloma (JXG) and is characterized by a lesion larger than 2 cm in diameter. It usually presents as a plaque but infrequently, presents as an ulcerated nodule. OBJECTIVE: To report two cases of atypical presentation of GJXG, highlighting the importance of considering them in the differential diagnosis of large, ulcerated tumors in infants. CLINICAL CASES: Case 1: A 4-month-old healthy male infant presented with a rapid and progressive growing left inguinal nodule, present since 2 months of age. At physical examination he presented with a 2.6 cm indurated erythematous nodule with central ulceration. Histological study of an incisional biopsy was compatible with JXG. Ophthalmologic involvement was ruled out. Because of functional impairment and parents worry complete surgical removal was performed. The patient had favorable evolution without local recurrence at 4 years of follow-up. Case 2: A 6-month-old healthy male infant presented with a 2.4 cm scapular crusted nodule of rapid and progressive growth, present since birth. Histological study of an incisional biopsy confirmed JXG. Ophthalmologic involvement was ruled out. After 18 months of periodic clinical follow-up, there was a progressive reduction in size of the lesion. CONCLUSIONS: The cases presented highlight the importance of considering JXG in the differential diagnosis of large, ulcerated tumors in infants. When encountered to atypical JXG presentations, histologic studies help to confirm the diagnosis. Given the favorable prognosis of this diagnosis, periodic clinical follow-up is advised; in exceptional cases, surgical or ablative treatments may be considered.

Juvenile xanthogranuloma as a differential diagnosis for sellar and suprasellar lesions in child: Case report and review of literature.

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.

Giant Juvenile Xanthogranuloma of face in an adult: A rare complexity.

Juvenile xanthogranuloma, a form of non-Langerhans cell histiocytosis can be defined as the proliferation of cells with macrophage like characteristics. It has been described as a benign, asymptomatic and common self-healing disorder of non-Langerhans cell histiocytosis (LCH), affecting mostly infants, children and rarely adults. We have documented a case of a 40 year old male who presented to us with extensive insidious papulonodulous growth over the face. The facial disfigurement caused was catastrophic. An extensive surgical excision and reconstruction was performed followed by histopathological evaluation. Microscopic study and immune histochemistry revaled Juvenile Xanthogranuloma of adult. The article highlights the presentation, diagnosis and management of this mammoth, rare disease.

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.

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.

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.

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.

Solitary Intracranial Juvenile Xanthogranuloma Masquerading as Low-Grade Glioma - A Rare Case Report.

Juvenile xanthogranuloma (JXG) is a rare, benign histiocytic disorder of young children. It is most often present with cutaneous involvement of the head, neck and trunk region. Systemic JXG causes cutaneous lesions with extracutaneous involvements frequently seen in the orbit, liver, spleen, lung, kidney and bones. Central nervous system (CNS) involvement is uncommon and is usually seen as a component of systemic disease. Isolated JXG of CNS is very rare and only few cases have been reported till date. Here we report a case of isolated solitary intracranial JXG mimicking clinically and radiologically as a low-grade glioma with no signs of cutaneous or other systemic involvement. Gross total excision of the tumour was done and final diagnosis was made by histopathological and immunohistochemical examination. CNS involvement of JXG can cause significant morbidity and mortality. These cases are usually misdiagnosed on radiology as glioma or meningioma and the diagnosis is usually made by histopathology. Surgery is the mainstay of treatment and these patients should be on long-term follow-up since the natural history of the disease is still unknown. The case is presented here for its rarity and for its clinical significance.

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.

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.

Xantogranuloma juvenil gigante: acometimento palpebral difuso e simultâneo / Giant Juvenile Xanthogranuloma: diffuse and simultaneous palpebral involvement

O xantogranuloma juvenil (XGJ) é um tumor benigno e o mais comum do grupo das doenças histiocitárias proliferativas nãoLangerhans. Lesões; 2cm são consideradas XGJ gigantes, com relatos de lesões de até 18cm. Lesões oculopalpebrais podem necessitar de tratamento cirúrgico para controle de sintomas. Esse trabalho relata o caso de um menino de 8 anos que teve as 4 pálpebras acometidas por XGJ gigantes, além do terço médio. Ele foi submetido a 3 ressecções, sendo uma bastante profunda, necessitando enxerto de pele de espessura total diretamente sobre o músculo levantador da pálpebra superior. Posteriormente, 3 procedimentos de lipoenxertia foram realizados, atingindo resultado funcional e estético adequado, sem recorrência lesional.

Juvenile xanthogranuloma (JXG) is the most common benign tumor of the group of non-Langerhans histiocytic proliferative diseases. Lesions >2 cm are considered giant JXG, with reports of lesions of up to 18 cm. Oculopalpebral lesions may require surgical treatment to control symptoms. This study reports a case of an 8-year-old boy who had four eyelids and the middle third of the face affected by giant JXG. He underwent three resections, one of which was of great depth that required a full-thickness skin graft directly on the levator palpebrae superioris muscle. Subsequently, four fat-grafting procedures were performed and adequate functional and

[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.

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.

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.