RESUMEN

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.

Asunto(s)

Asunto(s)

Asunto(s)

RESUMEN

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.

Asunto(s)

RESUMEN

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.

Asunto(s)

Asunto(s)

RESUMEN

Juvenile xanthogranuloma (JXG) is the most common form of non-Langerhans cell histiocytosis and oral mucosal involvement is exceedingly rare. Histiocytic disorders harbor activating mutations in MAPK pathway, including the report of BRAF V600E in JXG of extracutaneous site. However, no information is available for oral JXG. Herein, the clinicopathological and immunohistochemical features of five new oral JXG were evaluated in conjunction with literature review. Also, we assessed the BRAF V600E in oral samples. Five oral JXG were retrieved from pathology archives. Morphological and immunohistochemical analyses were performed. The BRAF V600E status was determined with TaqMan allele-specific qPCR. The series comprised of three female and two male patients, most of them adults, with a median age of 39 years (range 13-68 years). Clinically, the lesions appeared as asymptomatic solitary nodules, measuring until 2.5 cm, with more incident to the buccal mucosa. Morphologically, most of the cases presented classical histological features of JXG, with histiocytic cells consistent with the non-Langerhans cell immunophenotype. BRAF V600E was not detected in the cases tested. This is the first and largest published series of oral JXG affecting adults and a Brazilian population. The molecular pathogenesis of oral JXG remains unknown. Clinicians and pathologists must recognize JXG to avoid misdiagnoses with oral benign or malignant lesions.

Asunto(s)

Asunto(s)

RESUMEN

O xantogranuloma juvenil (JXG) é a forma mais comum de histiocitose de células não Langerhans na infância. Embora as lesões cutâneas sejam comuns, o envolvimento da mucosa oral é extremamente raro. Alguns estudos investigaram a base genética do JXG cutâneo e extracutâneo. No entanto, não há dados disponíveis para o JXG oral. Distúrbios histiocíticos têm sido associados a mutações da via proteína quinase ativada por mitogênio (MAPK) de ativação, incluindo o relato de BRAF V600E em JXG de locais extracutâneos. No presente estudo, as características clinicopatológicas e imuno-histoquímicas de cinco novos casos de JXG oral foram avaliadas em conjunto com uma revisão da literatura. Além disso, investigamos a ocorrência da mutação BRAF V600E nas amostras. Cinco JXG orais foram recuperados em dois serviços de patologia oral no Brasil. Os dados clínicos e demográficos foram coletados dos prontuários médicos. Foram realizadas análises clinicopatológicas e imuno-histoquímicas. O status do BRAF V600E foi determinado com Reação em Cadeia da Polimerase (PCR) alelo-específico com uso de uma Sonda Taqman. A série foi composta por 2 homens (40,0%) e 3 mulheres (60,0%), com média de idade de 38,8 ± 22,9 anos (variação: 13­68 anos) e proporção de mulheres para homens de 1,5: 1. A mucosa jugal (n = 3, 40,0%) foi a localização mais comum. Clinicamente, as lesões apresentavam-se como nódulos normocrômicos ou amarelados assintomáticos medindo de 1,0 a 2,5 cm (1,7 ± 0,6). Nenhum caso apresentou lesões cutâneas. Todos os casos foram excisados cirurgicamente. Morfologicamente, a maioria dos casos (n = 4, 80,0%) apresentou características histológicas clássicas de JXG com células histiocíticas positivas para CD68, CD163 e fator XIIIa. Considerando o status do BRAF, o BRAF V600E não foi detectado nos casos testados. Esta é a primeira e maior série publicada afetando adultos e uma população brasileira. A patogênese molecular do JXG oral permanece desconhecida.

Juvenile xanthogranuloma (JXG) is the most common form of non-Langerhans cell histiocytosis in childhood. Although cutaneous lesions are common, oral mucosa involvement is exceedingly rare. Some studies investigated the genetic basis of cutaneous and extracutaneous JXG, however, no data is available for oral JXG. Histiocytic disorders have been associated with activating MAPK pathway mutations, including the report of BRAF V600E in JXG extracutaneous sites. Herein the clinicopathological and immunohistochemical features of five new cases of oral JXG were evaluated in conjunction with a literature review. Also, we assessed the BRAF V600E mutation in oral samples. Five oral JXG were retrieved from two oral pathology services in Brazil. Clinical and demographic data were collected from medical records. Clinicopathological and immunohistochemical analyses were performed. The BRAF V600E status was determined with TaqMan allele-specific qPCR. The series comprised of2 men (40.0%) and 3 women (60.0%), with a mean age of 38.8 ± 22.9 years (range: 13­68 years) and a 1.5:1 female-to-male ratio. The buccal mucosa (n = 3, 40.0%) was the most common location. Clinically, lesions appeared as a normochromic or yellowish asymptomatic nodules measuring from 1.0 to 2.5 cm (1.7 ± 0.6). No cases presented cutaneous lesions. All cases were surgically excised. Morphologically, most cases (n = 4, 80.0%) presented classical histological features of JXG with histiocytic cells positive for CD68, CD163, and factor XIIIa. Considering the BRAF status, BRAF V600E was not detected in the cases tested. This is the first and largest series published affecting adults and a Brazilian population. Molecular pathogenesis of oral JXG remains unknown.

Asunto(s)

RESUMEN

ABSTRACT Juvenile xanthogranuloma is a rare benign non-Langerhans cell histiocytosis. Clinical manifestation usually occurs up to the age of 2 years, with yellowish papules and variable clinical progression. Approximately 0.75% of patients had systemic involvement and 0.25%, ocular alterations. The purpose of this report is to describe a case of a preschool 2-year-old female patient, with nodules in the upper right eyelid, 0.5-cm wide, with well-defined edges, an uncertain date of onset, a stable growth for 6 months, with no inflammatory signs, pruritus, pain, bleeding, or other similar lesions in the body. No further changes were observed in the physical examination. Histopathological examination of the specimen showed a skin lesion with histiocytoid, spindle-shaped cells and xanthomized cells, inflammatory infiltrate and numerous Touton giant cells. The result was compatible with diagnosis of juvenile xanthogranuloma. Therefore, the importance of including juvenile xanthogranuloma in the differential diagnosis of eyelid lesions is emphasized, especially in children.

RESUMO O xantogranuloma juvenil é uma patologia histiocítica benigna rara. A manifestação clínica ocorre geralmente até os 2 anos de idade com pápulas amareladas e evolução clínica variável. Cerca de 0,75% dos pacientes apresentaram comprometimento sistêmico e 0,25%, comprometimento ocular. O objetivo deste relato é descrever o caso de uma pré-escolar de 2 anos do sexo feminino, com nodulação em pálpebra superior direita, 0,5cm de base e bordos bem definidos, data de início não estimada, mas crescimento estável há 6 meses, sem sinais flogísticos, prurido, dor, sangramentos ou outras lesões similares no corpo. Sem mais alterações ao exame físico. A análise histopatológica da peça evidenciou lesão cutânea com células histiocitoides, fusiformes e outras xantomizadas; infiltrado inflamatório de permeio e numerosas células gigantes do tipo Touton, resultado compatível com o diagnóstico de xantogranuloma juvenil. Assim, ressalta-se a importância da inclusão do xantogranuloma juvenil no diagnóstico diferencial de lesões palpebrais, especialmente em crianças.

Asunto(s)

RESUMEN

La xantogranulomatosis juvenil es una patología infrecuente que se presenta predominantemente en la primera infancia, ya que los adultos pueden verse afectados con poca frecuencia. La manifestación cutánea se da en la mayoría de los casos como un nódulo rojo-amarillo indurado y solitario, que con frecuencia se presenta a nivel de cabeza y cuello, seguido del tronco, extremidades inferiores y superiores. Aunque infrecuentes, las manifestaciones extracutáneas pueden presentarse con principal compromiso oftalmológico (1). En el artículo se presenta el caso de un hombre de 42 años que consultó por la aparición de una lesión en el conducto auditivo externo derecho, con un aumento progresivo del tamaño asociado con otorrea serohemática intermitente e hipoacusia. El diagnóstico se realizó por medio de hallazgos clínicos, histopatológicos e inmunohistoquímicos. Se realizó escisión total de la lesión; posteriormente, el paciente presentó una evolución adecuada y mejoría de la sintomatología. Se presenta este caso por lo infrecuente de la entidad y por lo inusual de su localización.

Juvenile xanthogranulomatosis, an unusual pathology that occurs predominantly in early childhood, adults can be affected infrequently, the skin manifestation occurs in most cases, as a solitary, indurated red-yellow papule or nodule, with a highest frequency occurs at head and neck level, followed by the trunk and the lower and upper extremities. Extracutaneous manifestations are uncommon, however they can be present with principal ocular level involvement (1). We present the case of a 42-year-old man who consulted due to an appearance of a lesion in the right external auditory canal with a progressive increase in size associated with intermittent otorrhea and hearing loss. The diagnosis was made by clinical, histopathological and immunohistochemical findings. Excision of the entire lesion was performed, after which the patient presented adequate evolution and improvement of symptoms. This case is presented due to the infrequency of the entity and the unusual localization

Asunto(s)

RESUMEN

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.

Asunto(s)

RESUMEN

Juvenile xanthogranulomas (JXGs) are rare, benign lesions that belong to the large group of non-Langerhans cell histiocytoses. JXG presents with 1 or more erythematous or yellowish nodules that are usually located on the head or neck. Most JXG lesions are congenital or appear during the first year of life. Extracutaneous involvement is rare, but the literature traditionally suggests investigating the possibility of ocular compromise. JXG is mainly a clinical diagnosis, but a skin biopsy may sometimes be needed for confirmation. JXGs on the skin are self-limiting and usually do not require treatment. This review describes the clinical and therapeutic aspects of JXG, emphasizing available evidence and the diagnosis of extracutaneous involvement.

Asunto(s)

Asunto(s)

Asunto(s)

RESUMEN

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

Asunto(s)

RESUMEN

ABSTRACT Objective: To report a rate case of Juvenile xanthogranuloma in a newborn infant. Case description: We present the case of a 31-week preterm newborn with multiple skin lesions whose clinical, histological and immunohistochemical findings allowed the diagnosis of juvenile xanthogranuloma. Currently, the patient has nine months-old, and there is no aggravation of the skin lesions or evidence of extra-cutaneous involvement, particularly ophthalmic. Comments: Juvenile xanthogranuloma is a rare and benign condition, included in the vast group of non-Langerhans histiocytosis. It typically occurs in the pediatric age and may have a neonatal presentation. It affects predominantly the skin, in the form of papules or yellow and/or erythematous nodules and could be asymptomatic, multiple or solitary. Extra-cutaneous involvement, is more common in toddlers and when multiple lesions are present. The eye is the most affected site. We highlight this clinical case by its presentation in the neonatal period and in the form of multiple lesions, which bestows an increased risk of extra-cutaneous involvement, although this has not yet been verified.

RESUMO Objetivo: Descrever um caso raro de xantogranuloma juvenil em recém-nascido. Descrição do caso: Apresentamos o caso de um recém-nascido pré-termo de 31 semanas com múltiplas lesões cutâneas cuja clínica, histologia e imuno-histoquímica permitiram o diagnóstico de xantogranuloma juvenil. Atualmente, com nove meses de idade, não apresenta agravamento das lesões nem evidência de envolvimento extracutâneo, nomeadamente oftálmico. Comentários: O xantogranuloma juvenil é uma patologia rara e benigna, pertencente ao vasto grupo das histiocitoses não Langerhans. Surge tipicamente em idade pediátrica, podendo ter apresentação neonatal. O envolvimento é predominantemente cutâneo sob a forma de pápulas ou nódulos de coloração amarela e/ou eritematosos, assintomáticos, solitários ou múltiplos. O envolvimento extracutâneo é mais frequente em crianças com menos de dois anos e com múltiplas lesões, sendo o olho o local mais afetado. Destacamos este caso clínico pela apresentação no período neonatal e sob a forma de múltiplas lesões, o que lhe confere risco acrescido de envolvimento extracutâneo, sem que, no entanto, tal se tenha verificado.

Asunto(s)

RESUMEN

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.

Asunto(s)

RESUMEN

OBJECTIVE: To report a rate case of Juvenile xanthogranuloma in a newborn infant. CASE DESCRIPTION: We present the case of a 31-week preterm newborn with multiple skin lesions whose clinical, histological and immunohistochemical findings allowed the diagnosis of juvenile xanthogranuloma. Currently, the patient has nine months-old, and there is no aggravation of the skin lesions or evidence of extra-cutaneous involvement, particularly ophthalmic. COMMENTS: Juvenile xanthogranuloma is a rare and benign condition, included in the vast group of non-Langerhans histiocytosis. It typically occurs in the pediatric age and may have a neonatal presentation. It affects predominantly the skin, in the form of papules or yellow and/or erythematous nodules and could be asymptomatic, multiple or solitary. Extra-cutaneous involvement, is more common in toddlers and when multiple lesions are present. The eye is the most affected site. We highlight this clinical case by its presentation in the neonatal period and in the form of multiple lesions, which bestows an increased risk of extra-cutaneous involvement, although this has not yet been verified.

Asunto(s)

RESUMEN

Abstract Herein we report a case of juvenile xantogranuloma, an inflammatory disease more commonly diagnosed during childhood and is characterized by cutaneous and ocular manifestations. Iris is the main target, presenting as local or diffuse yellowish lesions. Iris involvement may precipitate not only glaucoma but also amblyopia. Treatment is based on corticosteroids therapy, either local or systemic aiming disease control.

Resumo É relatado um caso raro de xantogranuloma juvenil, doença de natureza inflamatória diagnosticada mais frequentemente na infância, com manifestações cutâneas e oculares. A íris é o principal sítio extracutâneo da doença, apresentando-se como lesão amarelada, difusa ou localizada. O acometimento iriano pode acarretar surgimento de glaucoma, além de ambliopia. O manejo clínico da lesão ocular no presente caso foi baseado no necessidade no uso contínuo de corticoide tópico e sistêmico para estabilização da doença.

Asunto(s)