Alectinib In the Treatment of Systemic Juvenile Xanthogranuloma of Infancy With ALK Translocation.

This observational case series examines the diagnosis and treatment of 2 patients with systemic juvenile xanthogranuloma treated with alectinib.

Intralesional glucocorticoid treatment of an isolated intracranial juvenile xanthogranuloma: a case report.

Juvenile xanthogranuloma is a type of non-Langerhans cell histiocytic process that appears primarily in children and is described as a benign lesion. Although they typically present as a cutaneous lesion, it can also present in other areas including within the central nervous system. We report a 6-month-old infant who presented with seizure-like activity who was found to have a single intracranial mass within the right temporal area on magnetic resonance imaging of the head. The mass was biopsied and pathologically identified as a juvenile xanthogranuloma. In order to avoid the morbidity associated with a gross total resection, an intralesional steroid injection was utilized for treatment which our patient tolerated well. Intralesional steroid injection for the treatment of a symptomatic isolated intracranial juvenile xanthogranuloma has not been described but was successful for our patient.

Role of FDG PET/CT in the Evaluation of Therapy Response in Systemic Juvenile Xanthogranuloma.

ABSTRACT: Juvenile xanthogranuloma, a rare type of non-Langerhans cell histiocytosis, is mostly seen in childhood and adolescence and generally manifests as widespread skin lesions. It rarely shows systemic involvement. Although the cutaneous form is often self-limited, systemic form is quite aggressive. Here we report the findings of FDG PET/CT scans during the course of cladribine therapy in a 6-year-old girl with systemic juvenile xanthogranuloma.

Refractory Extracutaneous Juvenile Xanthogranuloma With Multiple Intracranial Nodular Lesions Successfully Treated With 2-Chlorodeoxyadenosine.

Juvenile xanthogranulomatosis (JXG) is a rare histiocytic disease that is usually limited to the skin, but some JXG cases involve other organs. JXG involving the central nervous system (CNS) is rare and its treatment is inadequate. The optimum treatment for refractory JXG involving the CNS remains unknown. We report here a case of refractory pediatric extracutaneous JXG (extra-JXG) involving the CNS with multiple intracranial masses treated with 2-chlorodeoxyadenosine resulting in achievement of long-term complete remission. 2-Chlorodeoxyadenosine, with favorable CNS penetration in the cerebrospinal fluid, is apparently an effective treatment for extra-JXG and systemic JXG (sJXG) with CNS involvement.

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.

Successful treatment of congenital systemic juvenile xanthogranulomatosis with pulmonary involvement.

Juvenile xanthogranuloma (JXG) is a common form of non-Langerhans cell histiocytosis, which usually presents with spontaneously regressing skin lesions. Systemic involvement is rare and mostly seen in patients with multiple skin nodules. It can spontaneously regress, but sometimes systemic involvement can cause life-threatening symptoms and can be fatal. Herein, we report a case of congenital systemic JXG with multiple skin nodules, soft tissue and pulmonary involvement. She was successfully treated with chemotherapy according to Langerhans cell histiocytosis treatment protocol IV of the Histiocyte Society (LCH-IV).

Histiocytic Diseases of Neonates: Langerhans Cell Histiocytosis, Rosai-Dorfman Disease, and Juvenile Xanthogranuloma.

Langerhans cell histiocytosis, Rosai-Dorfman disease, and juvenile xanthogranuloma may present at birth or any time afterward. Some patients have minimal skin or lymph node involvement, but others present with life-threatening pulmonary, hepatic, bone marrow, or central nervous system lesions. There is often a delay in diagnosis because of confusing overlap with more common neonatal diseases. Many treatment regimens have been applied to these diseases, but those directed at myeloid cells, such as cytarabine and clofarabine or mutation-targeting inhibitors, are gaining favor. This article provides information on the pathophysiology, clinical presentation, evaluation guidelines, and treatment of these uncommon tumors of neonates.

Extensive "stalagmite" epi-iridic juvenile xanthogranuloma simulating diffuse melanoma in a 16-year-old girl.

A 16-year-old girl noted worsening redness and photophobia of the right eye that had previously been treated unsuccessfully with sequential courses of topical antibiotics and topical corticosteroids. Clinical examination revealed diffuse flakelike thickening of the iris surface, pupillary margin, and anterior chamber angle, suggesting diffuse iris melanoma. Anterior segment optical coherence tomography depicted the mass as an epi-iridic deposit with "stalagmite" surface appearance. Fine-needle aspiration biopsy confirmed an atypical histiocytic proliferative disorder consistent with juvenile xanthogranuloma. Aggressive topical corticosteroid treatment was started. There were no systemic findings. Following therapy, the lesion resolved completely.

Corneoscleral xanthogranuloma treated with chemotherapy: The room for nonsurgical management.

PURPOSE: To describe a clinical case of corneoscleral xanthogranuloma, a rare manifestation of juvenile xanthogranuloma, and xanthoma disseminatum, which responded well to chemotherapy. METHODS: Interventional case report and literature search. RESULTS: A 9-year-old female patient with a disseminated disease showed complete regression of her corneoscleral xanthogranuloma with methotrexate and azathioprine therapy. CONCLUSION: Since they are potentially blinding, corneoscleral xanthogranulomas are commonly surgically excised. While surgical resection has been widely advocated in the literature, immunosuppressive therapy alone may be a pertinent management line of corneoscleral xanthogranuloma, especially with systemic involvement.

Early severe coronary heart disease and ischemic heart failure in homozygous familial hypercholesterolemia: A case report.

RATIONALE: Familial hypercholesterolemia (FH) is a common inherited cause of coronary heart disease (CHD) and premature death in an early age. Nevertheless, an ischemic heart failure (IHF) associated with FH seems to be rare, and an early diagnosis and therapy could influence the prognosis. PATIENT CONCERNS: In this 13-year-old girl, multiple xanthomas began to develop from the first day of birth. Until June, 2017, she was admitted to our center due to edema, oliguria, and dyspnea during exertion, which was attributed to a recent respiratory infection. DIAGNOSIS: Homozygous FH (HoFH), CHD, and IHF. INTERVENTIONS: The patient has been treated with statin, ezetimibe, aspirin, and traditional heart failure (HF) medications. In addition, the beta-blocker was simultaneously administered. OUTCOMES: Genotypes of this proband indicated homozygous mutations of low-density lipoprotein receptor (LDLR) and some co-segregated mutations, such as von Willebrand factor (VWF) and fibroblast growth factor receptors. At 6-month follow-up, we found a decreased level of plasma lipid profile, in addition to a significant improvement in 6-minute walk distance and functional class. Echocardiography indicated nonsignificant improvements in the structure and function of the heart. LESSONS: This case report indicates that HoFH can lead to dramatically progressive endothelial damages and ventricular remodeling, severe atherosclerosis, even IHF. Genetic outcomes indicate IHF with HoFH could possibly result from LDLR mutations and some co-segregated mutations influencing endothelial function and cardiovascular remodeling. In a short-term follow-up, a combination of statins, ezetimibe, aspirin, and traditional HF agents is safe and effective for IHF with HoFH, and there is a need for further identification of drugs to ameliorate endothelial function and cardiovascular remodeling which may play an important role in long-term treatment.

Successful treatment of systemic juvenile xanthogranulomatosis with cytarabine and 2-chlorodeoxyadenosine: case report and review of the literature.

The non-Langerhans cell histiocytosis (LCH) juvenile xanthogranulomatosis (JXG) is usually a benign disease limited to the skin. Only a few cases of systemic disease with at least two affected organs and lethal outcomes have been reported to date. Treatment is controversial and no standard protocol is available. We report the rare case of a 22-month-old boy presenting multiple erythematous brownish papules of the head, trunk and legs, which had developed starting from his 6th month of life. Additional symptoms were delayed psychomotor development, hydrocephalus and hepatosplenomegaly. Further diagnostics revealed a systemic JXG with involvement of the skin, central nervous system, liver and spleen. The patient did not respond to initial therapy with prednisone and vinblastine according to protocol III for LCH. However, further therapy with cytarabine and 2-chlorodeoxyadenosine followed by a consolidation phase with 2-chlorodeoxyadenosine alone was successful and the patient is in his 4th year of remission. We provide a comprehensive review of the reported cases of systemic JXG to date.