Congenital Juvenile Xanthogranuloma in the Perioral Region: A Case Image.

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.

Infantile systemic juvenile xanthogranuloma case with massive liver infiltration

Infantile systemic juvenile xanthogranuloma (ISJXG) is an uncommon form of juvenile xanthogranuloma, a non-Langerhans cell proliferation of infancy and early childhood. In a small percentage of patients, the visceral involvement­most commonly to the central nervous system, liver, spleen, or lungs­may be associated with severe morbidity, and eventually fatal outcome. Here we describe the clinical and pathological findings of a 28-day-old girl with ISJXG who died with respiratory distress syndrome. She had few cutaneous lesions but massive liver and spleen infiltration; other affected organs were multiple lymph nodes, thoracic parasympathetic nodule, pleura, pancreas, and kidneys. Additional findings were mild pulmonary hypoplasia and bacteremia. Immunohistochemistry on fixed tissues is the standard for diagnosis. Immunophenotype cells express CD14, CD68, CD163, Factor XIIIa, Stabilin-1, and fascin; S100 was positive in less than 20% of the cases; CD1a and langerin were negative. No consistent cytogenetic or molecular genetic defect has been identified. This case demonstrates that the autopsy is a handy tool, because hepatic infiltration, which was not considered clinically, determined a restrictive respiratory impairment. In our opinion, this was the direct cause of death.

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.

Glaucoma neonatal secundario a xantogranuloma juvenil: caso clínico / Neonatal glaucoma associated with juvenile xanthogranuloma: Case report

Caso clínico: Varón de 22 días con xantogranulomatosis juvenil (XGJ) que comenzó con glaucoma unilateral y exudado fibrinohemorrágico que invadía ángulo en su ojo derecho. Pese a un alto nivel de sospecha, el diagnóstico definitivo no pudo realizarse hasta los 10 meses de vida tras la aparición y estudio anatomopatológico de las típicas lesiones cutáneas. Conclusión: La XGJ es una enfermedad poco frecuente caracterizada por lesiones cutáneas amarillentas en tronco, cuello o cabeza. Hasta el 10% de casos pueden presentar afectación ocular siendo la manifestación extracutánea más frecuente de la enfermedad (AU)

Case Report: The case concerns a 22 day-old male child with juvenile xanthogranuloma (JXG), which manifested as a unilateral glaucoma and with fibrinous haemorrhagic exudate in the anterior chamber affecting the angle of the right eye. Despite a high level of suspicion, the definitive diagnosis was not possible until the infant reached the age of 10 months, after the appearance of the skin lesions typical of this condition and histopathological study of them.Conclusion: JXG is a rare disease, characterised by yellowish skin lesions on the trunk, neck, or head. Up to 10% of cases will have ocular involvement, which is the most common extracutaneous manifestation of the disease (AU)

Xantogranuloma juvenil solitario congénito: Caso clínico / Solitary and congenital juvenile xanthogranuloma: Case report

El xantogranulomajuvenil es una patología benigna y representa la forma más común de histiocitosis de células no Langerhans. Está caracterizado por la presencia de pápulas o nodulos firmes de coloración rosada o amarillo amarronada, que comprometen, principalmente, la piel y, de forma excepcional, otros órganos. Es una entidad autolimitada con una involución espontánea en los primeros 5 años de vida. Presentamos a una paciente de 1 mes de vida con una lesión congénita en el abdomen, cuya histopatología mostró la presencia de células gigantes multinucleadas de Touton, características de esta patología. Destacamos la presentación infrecuente de este tipo de lesión y la importancia de los múltiples diagnósticos diferenciales que se deben tener en cuenta debido a la edad de la paciente y a sus características.

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.

[Solitary and congenital juvenile xanthogranuloma: case report]. / Xantogranuloma juvenil solitario congénito: caso clínico.

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.

El xantogranuloma juvenil es una patología benigna y representa la forma más común de histiocitosis de células no Langerhans. Está caracterizado por la presencia de pápulas o nódulos firmes de coloración rosada o amarillo amarronada, que comprometen, principalmente, la piel y, de forma excepcional, otros órganos. Es una entidad autolimitada con una involución espontánea en los primeros 5 años de vida. Presentamos a una paciente de 1 mes de vida con una lesión congénita en el abdomen, cuya histopatología mostró la presencia de células gigantes multinucleadas de Touton, características de esta patología. Destacamos la presentación infrecuente de este tipo de lesión y la importancia de los múltiples diagnósticos diferenciales que se deben tener en cuenta debido a la edad de la paciente y a sus características.

Congenital juvenile xanthogranuloma with ulceration: a pediatric case report.

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.

Superficial and deep infiltrating congenital juvenile xanthogranuloma involving multiple skeletal muscles and associated with ulceration and generalized postinvolution atrophy.

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.

Clustered juvenile xanthogranuloma.

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.

A rare case of neonatal systemic xanthogranulomatosis with severe hepatic disease and metachronous skin involvement.

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 in a preterm infant.

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.