Search

Juvenile xanthogranuloma (JXG) is the most common form of non-Langerhans cell histiocytosis in childhood. It often presents with cutaneous involvement and exhibits a predilection for the head and neck region. This article illustrates a case of congenital JXG in a 5-month-old boy, characterized by a solitary, well-circumscribed nodule above the left upper lip. Histopathologically, the lesion exhibited histiocytes with eosinophilic cytoplasm and Touton giant cells. Immunohistochemistry revealed histiocytes positive for CD68 and Factor XIIIa, while negative for S-100 protein. Clinicians should become familiar with the broad clinical spectrum of cutaneous JXG, particularly its congenital presentation, in order to ensure timely and accurate management., (© 2024. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)

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.

Congenital juvenile xanthogranuloma (JXG) is an uncommon diagnosis and even more rarely presents with ulceration. We report such a case in a two-week-old girl. Biopsy was performed to rule out any concerning entities. Adequate treatment was provided with topical petrolatum and occasional miconozole or zinc oxide; the mass spontaneously regressed. Because congenital JXG has an excellent prognosis, insight into unique presentations such as this may provide useful information and avoid unnecessary surgical interventions.

Juvenile xanthogranuloma is a bening pathology and it represents the most common form of non-Langerhans cell histiocytosis. It is characterized by the presence of papules or firm nodules of a pinkish or yellow-brownish nature, which mainly compromise the skin and, exceptionally, other organs. It is a self-limited entity having a spontaneous regression during the first five years of life. We report the case of a one-month-old patient who presented a congenital tumor in the abdomen, whose histopathology showed the presence of multinucleated giant Touton cells, which are typical of this pathology. We emphasize the rare occurrence of this type of lesion and the importance of the multiple differential diagnosis to be taken into account due to the age of the patient and the characteristics of the lesion., (Sociedad Argentina de Pediatría.)

We present a 2-day-old boy with a deep-seated giant juvenile xanthogranuloma infiltrating the skeletal muscles on his right lower limb. Unlike typical juvenile xanthogranuloma, the lesion has shown only partial spontaneous regression with large atrophic scar. However, despite the involvement multiple muscle on the right thigh, the patient has no evidence of orthopaedic sequelae., (© 2014 Wiley Periodicals, Inc.)

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., (© 2012 Wiley Periodicals, Inc.)

Juvenile xanthogranuloma (JXG) is a rare benign disorder of unknown pathogenesis, usually a self-limited condition. Extracutaneous systematic involvement is infrequent. We report one of the few documented cases of congenital systemic JXG, presenting with fever, jaundice, hepatosplenomegaly, ascites, pancytopenia, and delayed skin involvement. Liver biopsy established the diagnosis and JXG was not demonstrated in the bone marrow. Rapid deterioration of liver disease and pancytopenia, prompted us to administer immunosuppressive treatment (Langerhans cell histiocytosis-II Protocol). The patient's clinical condition improved and visceral and skin lesions showed gradual involution. The patient is still free of disease 4 years after the initial presentation.

Primitive myxoid mesenchymal tumor of infancy is a recently recognized entity that has been added to the differential diagnosis of myxoid tumors of the soft tissue. Few cases have been reported of this entity in the literature, but none presenting in a preterm infant. We present the case and clinical course of a preterm boy with a primitive myxoid mesenchymal tumor of infancy that occurred following excision of a congenital juvenile xanthogranuloma., (© 2010 Wiley Periodicals, Inc.)

Juvenile xanthogranuloma, a histiocyte disorder, usually presents with a solitary cutaneous lesion. Juvenile xanthogranuloma with extracutaneous involvement is a rare disease in which significant morbidity and occasional deaths may occur. Monozygotic twins with congenital systemic juvenile xanthogranuloma who presented with multiple skin lesions, hepatosplenomegaly, liver failure, and bone marrow involvement were reported. The diagnosis of systemic juvenile xanthogranuloma was confirmed by histology and immunohistochemical stains of the skin with liver biopsies revealing dense infiltration of lymphohistiocytes with typical Touton giant cells staining positive for CD68 and negative for CD1a and S-100 protein. Both of them received systemic prednisolone 1 mg/kg/day which was gradually tapered off with time according to clinical and investigative responses. At the 17-month follow-up period, both patients showed remarkable regression in all symptoms and laboratory studies.

We report the case of an infant affected with congenital systemic juvenile xanthogranuloma scheduled for central venous access system implantation (Port-a-Cath) and a liver and bone marrow biopsy. The patient had impaired liver function, thrombocytopenia, and coagulopathy which was refractory to daily fresh-frozen plasma and platelet infusions: 80 microg x kg(-1) dose(-1) of recombinant factor VIIa (rFVIIa) was administered i.v. every 2 h starting 30 min before the procedure and ending 6 h afterwards. Very minor bleeding was observed during the procedure. In conclusion, rFVIIa therapy was effective as prophylaxis for both invasive procedures in this patient with a coagulopathy which was refractory to other different therapies.

Juvenile xanthogranuloma is a frequent childhood tumor and the only common non-Langerhans' cell histiocytosis. We present an unusual case of juvenile xanthogranuloma (JXG) of clitoral connective tissue in a 6-week-old girl.

Juvenile xanthogranuloma (JXG), one of the most common forms of non-Langerhans cell histiocytosis (LCH), usually presents in young children as spontaneously regressing cutaneous lesions. However, the systemic type of JXG is difficult to treat in newborn infants, and fatal cases have been reported. In the patient described here, solid masses were discovered by fetal sonography during the 38th gestational week. At birth she had multiple tumors on the back, cheek, and hip as well as marked hepatosplenomegaly accompanied by respiratory failure. Laboratory results indicated pancytopenia, obstructive liver dysfunction, and coagulopathy. Brain magnetic resonance imaging revealed a tumor at the left pontine angle, and dysmorphic histiocytes were present in her spinal fluid. She was diagnosed with systemic JXG by histopathologic findings of the hip mass. The LCH-based multiagent chemotherapy including cytarabine, vincristine, methotrexate, and prednisolone ameliorated the symptoms rapidly. She was treated for 12 months and is currently doing well as a normally developing 2-year-old.

Juvenile xanthogranuloma is the most common non-Langerhans cell histiocytosis of infancy and childhood. It is a benign disorder that usually regresses spontaneously, more often without or with limited skin changes. The clinical features are very pleomorphic and recognition of the atypical presentations should facilitate the diagnosis. We report a 9-month-old boy who had an extensive, atrophic lesion on the proximal thigh that followed the course of the congenital giant form. The large size of the lesion does not alter the clinical course or result in extracutaneous involvement, which remains rare. However, uncommon clinical presentations raise the problem of differential diagnosis, requiring biopsy to eliminate other tumors with a less favorable prognosis.

This is the second reported patient with systemic juvenile xanthogranuloma (JXG) to die with liver failure. The infant was born with multiple skin lesions and mild hepatomegaly. Direct hyperbilirubinemia was noted on the 2nd day of life, followed by progressive hepatomegaly, cholestasis, and death at 29 days of age. At autopsy, nodular tumor infiltrates of JXG were present throughout the liver, as well as in skin, abdominal lymph nodes, spleen, and pancreas.

An infant girl presented at birth with multiple, large nodular xanthogranulomas. Her monozygotic twin sister was not affected. The congenital tumors were up to 1.5 cm in diameter, done-shaped and mainly located on the head and the upper half of the body. Histologically the cells were characterized as CD68+ non-Langerhans histiocytes. Follow-up for 18 months showed no new tumors and regression of the existing ones. No extra-cutaneous manifestations were observed. Knowledge of the differential diagnosis, especially the group of Langerhans cell histiocytosis, is essential for prognosis estimation.

Background: Juvenile xanthogranulomas are rare benign tumors of histiocytic origin with cutaneous manifestation predominantly in the head and neck. A case of a 12-month-old girl is presented., Case Report: A tumor of the inferior crus of the left auricle had been noticed three weeks after birth. It was of yellowish color, bosselated and firm, and not mobile. During operation the tumor seemed lipomatoid and affected both cutis and subcutis. Histologically cutaneous structures were regular. Subcutaneously, cell-rich connective tissue with foamy histiocytes and Touton giant cells were observed as characteristic features of a juvenile xanthogranuloma., Discussion: The pathogenesis of this tumor is unclear. The definite diagnosis is established by histological examination. Histological differentiation should include malignant tumors of histiocytic origin (dermatofibro-sarcoma protuberans, histiocytoma, atypical fibrous histiocytoma, fibro-xanthosarcoma) and malignant melanoma. Surgery is the treatment of choice only in cases in which the clinical diagnosis is doubtful, since juvenile xanthogranulomas usually heal spontaneously.

We report on a patient with multicentric juvenile xanthogranuloma, whose unusual clinical and histological pattern initially obscured the diagnosis. Spontaneous remission of the tumour, which has now been maintained for over 2 years, the change from the primary monomorphological fibrocytic appearance to a polymorphological histiocytic picture with multiple fat-storing giant cells, and the lacking dermonstration of specific cell organelles finally allowed the nature of the disease to the definitely diagnosed.

Introduction: Juvenile giant xanthogranuloma (JGX) is usually a benign skin disease which regresses spontaneously in the new-born or infant. Characteristic firm yellow-orange papulonodules lead to diagnosis. The nodules vary in size from a few millimetres to 1 to 2 centimetres. We observed an exceptional case presenting as a congenital giant form., Case Report: A new-born girl had a bright red lesion of the right inguinal region measuring 4 x 2.5 cm. Inguinal node enlargement was found homolaterally. Histological examination of a biopsy specimen gave the diagnosis of JGX. There was no extension. The lesion and node involvement regressed spontaneously leaving a xanthomization of the skin., Discussion: Clinical forms of JGX are rarely described. The large size of these lesions does not apparently affect the clinical course nor associated visceral involvement which remains exceptional. This type of lesion increases in size more rapidly and raises the problem of differential diagnosis requiring biopsy to eliminate other neonatal tumours with a less favourable prognosis. Spontaneous regression of JGX is the rule allowing simple regular surveillance.

Juvenile xanthogranuloma (JXG) is a rare affliction of early childhood comprising cutaneous and deep-seated lesions. Accurate diagnosis is important as the condition is self-limiting with spontaneous regression over a period of months. A case of congenital JXG is reported and the literature briefly reviewed.

Congenital giant juvenile xanthogranuloma is an uncommon lesion that apparently has benign biologic behavior in most reported patients. In one of our three patients it was necessary to perform histochemical reactions with CD 1 (-), MAC 387, and electron microscopy to rule out Langerhans cell histiocytosis. The other patients had a typical histologic picture, with foamy histiocytes and Touton cells in association with lymphocytes and eosinophils. Comments about treatment are also made.

A 7-month-old female infant presented with a heterochromia and an anisocoria. A spontaneous hyphema and a secondary glaucoma had developed. Under topical and systemic steroid therapy the eye improved continuously. At the time of the last ocular examination the hyphema had resorbed, and the intraocular pressure was normal. Heterochromia had almost completely vanished, and dilation of the pupil was much better. Since even a massive juvenile xanthogranuloma of the iris responds well to steroids, operative and radiation treatment should be limited to cases refractory to antiinflammatory drug therapy.

Two patients with different patterns of soft tissue and bone involvement demonstrate the variability of extracutaneous manifestations of juvenile xanthogranuloma, a non-X histiocytosis, better known to dermatologists than to radiologists.

The purpose of this article is to present a case of juvenile xanthogranuloma with pulmonary, retroperitoneal and splenic involvement. The similar echographic pattern of the cutaneous and visceral lesions was very helpful in order to suggest the correct diagnosis.

A large congenital eyelid mass prevented an infant from elevating his eyelid successfully. A small punch biopsy was initially interpreted as "consistent with a dermatofibrosarcoma protuberans." On the basis of this diagnosis, radical surgery was advised. Dermatofibrosarcoma protuberans, however, rarely affects children and seldom appears in the head and neck area. Because of the discrepancy between clinical and pathologic diagnoses, additional biopsies were performed, which disclosed the lesion to be a juvenile xanthogranuloma. The mass regressed after intralesional injections of corticosteroids. This is the first clinicopathologic description of congenital macronodular juvenile xanthogranuloma affecting the eyelids. The variability in the histologic composition of this large lesion may lead to a mistaken diagnosis of an aggressive condition that may provoke unnecessary radical surgery.

Three cases of congenital histiocytic disorders--generalized Langerhans cell histiocytosis, generalized juvenile xanthogranuloma and so-called congenital self-healing histiocytosis are compared using histiochemical, immunohistochemical and ultrastructural methods. The results showed a typical morphological pattern of Langerhans cell histiocytosis (S 100+, CD 1+, alpha-mannosidase +) with an unusual self-healing cutaneous phenomenon. The congenital self-healing histiocytosis showed a non-Langerhans cell immunophenotype (CD 14+, CD 1-, S 100-) and morphological appearance resembling the evolutive "early" stage of juvenile xanthogranuloma. A diffuse cellular positivity of alpha-mannosidase in juvenile xanthogranuloma and congenital self-healing histiocytosis differed from a typical perinuclear globular positivity of this enzyme in Langerhans cell histiocytosis. It is concluded that congenital self-healing histiocytosis may in some cases be of non-Langerhans cell type and under this term a clinically characteristic syndrome of histiocytic proliferation of Langerhans cells or tissue histiocytes may be included.

A case of juvenile xanthogranuloma in the hand is reported. The lesion was atypical clinically, being sited in the hand and the tumour was so large that it extended from the palmar to the dorsal surface. Curettage was performed at seven weeks after birth and histological examination established a diagnosis of juvenile xanthogranuloma. The post-operative course was uneventful, and the residual lesion had disappeared spontaneously four years after operation.