Upper eyelid juvenile xanthogranuloma: a case report / Xantogranuloma juvenil em pálpebra superior: relato de caso

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.

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.

Juvenile xanthogranuloma: a case report / Xantogranuloma juvenil: um caso clínico

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.

Juvenile Xanthogranuloma: A Case Report and Review of the Literature / Xantogranuloma Juvenil: Informe de un Caso y Revisión de la Literatura

SUMMARY: Juvenile xanthogranuloma (JXG), is a benign histiocytic proliferation of uncertain histiogenesis which was first described by Adamson in 1905. It is a regressing disorder which occurs in children usually within first year of life. A child of ten months age reported to the Azeezia College of Dental Sciences and Research with a nodular swelling on the right side of the cheek and gave a history of swelling since the age of 5 months with gradual increase in size which was not associated with pain or itching. A provisional diagnosis of Haemangioma was made and excision biopsy of the lesion was done under general anaesthetia. Depending on the histopathologic and immunohistochemical findings a diagnosis of Juvenile Xanthogranuloma was made. The excisional biopsy site healed uneventfully with minimal scar formation. JXG is a benign fibrohistiocytic lesion and a type of granulomatous process. Pathogenesis of the lesion is unknown. It is generally considered to be a reactive lesion. Most common presentation is as solitary cutaneous lesion. Children are affected at a median age of 2 years with a male female ratio of 1.5:1. Classic histopathologic findings include Nodular to diffuse collection of histiocytes with finely vacuolated foamy cytoplasm and round to oval nuclei, Touton giant cells which are the cells with a central wreath of nuclei and peripheral rim of eosinophilic to vacuolated cytoplasm loaded with fat and Inflammatory infiltrate such as lymphocytes and eosinophils. JXG has to be clinically differentiated from Xanthoma, Molluscum contagiosum, Haemangioma and Neurofibroma. Mostly a self-limiting disease which spontaneously resolves. Conservative management is the treatment of choice. Excision may be done due to esthetic and diagnostic reasons. Recurrence is uncommon. JXG is a disease predominantly of early childhood, benign and self-healing.

RESUMEN: El xantogranuloma juvenil (JXG) es una proliferación histiocítica benigna de histiogénesis incierta que fue descrita por primera vez por Adamson en 1905. Es un trastorno regresivo que ocurre en los niños generalmente durante el primer año de vida. Un niño de diez meses de edad consultó al Colegio de Ciencias e Investigación Dental Azeezia por la presencia de hinchazón nodular en el lado derecho de la mejilla y un historial de hinchazón desde la edad de 5 meses con un aumento gradual en el tamaño que no estaba asociado con dolor o comezón. Se realizó un diagnóstico provisional de hemangioma y se realizó una biopsia de escisión de la lesión con GA. A partir de los hallazgos histopatológicos e inmunohistoquímicos, se realizó un diagnóstico de Xantogranuloma Juvenil. El sitio de la biopsia por escisión se curó sin incidentes con una formación de cicatriz mínima. JXG es una lesión fibrohistiocítica benigna y un tipo de proceso granulomatoso. La patogenia de la lesión es desconocida. Generalmente se considera que es una lesión reactiva. La presentación más común es como una lesión cutánea solitaria. Los niños se ven afectados a una edad media de 2 años con una proporción de hombres y mujeres de 1,5:1. Los hallazgos histopatológicos clásicos incluyen colección nodular a difusa de histiocitos con citoplasma espumoso finamente vacuolado y núcleos redondos a ovalados, células gigantes de Touton que son las células con una corona central de núcleos y margen periférico de citoplasma eosinófilo a vacuolado cargado con grasa e infiltrado inflamatorio como linfocitos y eosinófilos. JXG tiene que ser clínicamente diferenciado de Xanthoma, Molluscum contagiosum, Hemangioma y Neurofibroma. Es una enfermedad principalmente autolimitante que se resuelve espontáneamente. El tratamiento conservador es el tratamiento de elección. La escisión puede realizarse por razones estéticas y diagnósticas. La recurrencia es poco común. JXG es una enfermedad predominantemente de la primera infancia, benigna y autocurable.

Dermoscopy in the diagnosis of juvenile xanthogranuloma

Abstract: Juvenile xanthogranuloma is the most common form of non-Langerhans cell histiocytosis. It manifests clinically as a red-yellow papule, usually showing spontaneous remission. The diagnosis is based on clinical and histological findings. We report the use of dermoscopy ("setting sun" pattern) as an adjuvant tool in the diagnosis of juvenile xanthogranuloma in a female patient presenting with a 2-month history of a pre-auricular papule.

Histiocitosis eruptiva generalizada-xantogranuloma juvenil: espectro clínico en un paciente pediátrico / Generalized eruptive histiocytosis-Juvenile xanthogranuloma: clinical spectrum in a pediatric patient

La histiocitosis eruptiva generalizada, conjuntamente con el xantogranuloma juvenil, constituyen desórdenes histiocíticos de origen dendrítico (también denominados histiocitosis no Langerhans), que comparten características clínico-patológicas e inmunohistoquímicas. Presentamos a una paciente de 3 años de edad con lesiones en la piel clínicamente compatibles con histiocitosis eruptiva generalizada y confirmadas mediante histología e inmunohistoquímica. Luego presentó compromiso en el sistema nervioso central, por lo que fue intervenida quirúrgicamente. En la histopatología de esta lesión, se encontraron células de Touton, compatibles con el diagnóstico de xantogranuloma juvenil. Este caso clínico demuestra la necesidad de considerar estas enfermedades como espectro de una misma entidad.

Both, generalized eruptive histiocytosis and juvenile xanthogranuloma are dendritic histiocytic disorders (also known as non-Langerhans cells histiocytosis) that share clinicopathological and immunohistiochemical characteristics. We present a 3-year-old female patient with skin lesions that were clinically compatible with generalized eruptive histiocytosis, confirmed by histopathological and immunohistochemical studies. During her development the disorder compromised the central nervous system, and surgical intervention of one symptomatic lesion was needed. The histopathological exam of the central nervous system lesion showed Touton cells, compatible with a diagnosis of juvenile xanthogranuloma. This case demonstrates the need to consider these diseases as a spectrum of the same entity.

Xantogranuloma juvenil múltiple: variante inusual en un lactante / Multiple juvenile xanthogranuloma: unusual variant in an infant

El Xantogranuloma Juvenil (XJ) es un tumor benigno de la infancia, constituido por histiocitos progresivamente lipidizados, en ausencia de anomalías metabólicas. Se reporta un caso de XJ múltiple en un lactante. Paciente masculino de 1 año y 11 meses de edad, sin antecedentes mórbidos. Consultó por lesiones de 15 meses de evolución en cuero cabelludo. Al examen físico destacaban dos pápulas amarillentas y tres máculas anaranjadas en cuero cabelludo. A la dermatoscopía se apreciaba un color amarillonaranja homogéneo. La biopsia incisional demostró infiltrado de histiocitos en dermis y células de Touton. A la inmunohistoquímica, los histiocitos fueron CD68 positivo, S100 negativo y CD1a negativo. Los exámenes de laboratorio y la evaluación por oftalmología no evidenciaron anormalidades. El XJ es un tumor benigno, siendo la forma más común de Histiocitosis no Langerhans. El 90% de las veces ocurre en etapas tempranas de la vida. Se caracteriza por una pápula o nódulo asintomático, amarillo-anaranjado, que compromete cabeza, cuello y/o tronco superior. Hasta el 82% de los casos se manifiesta de manera única. El ojo es el sitio extracutáneo más frecuentemente comprometido. La dermatoscopía describe un patrón de "puesta de sol". Su pronóstico es bueno y tiende a involucionar a los 3-6 años desde su aparición. Se presenta este caso dado que el XJ múltiple es menos frecuente de observar que su forma única y para recordar que su asociación con neurofibromatosis tipo 1 predispone a un mayor riesgo de desarrollar una leucemia mieloide crónica infantil.

The Juvenile Xanthogranuloma (JX) is a benign tumor of childhood, composed of progressively lipidized histiocytes in the absence of metabolic abnormalities. A case of multiple JX is reported in an infant. Male patient of 1 year and 11 months, without morbid history. Checking injuries in scalp of 15 months of evolution. At physical examination highlights two yellow papules and three orange macules in the scalp. Dermatoscopy shown a homogeneous yellow-orange color. The incisional biopsy showed infiltration of histiocytes in the dermis and Touton cells. At immunohistochemistry, histiocytes were CD68 positive, S100 negative and CD1a negative. Laboratory tests and evaluation by Ophthalmology showed no abnormalities. The JX is a benign tumor, been the most common form non- Langerhans histiocytosis. This taking place 90% of the time in early life, and characterized by yellow-orange asymptomatic papule or nodule, which undertake head, neck and / or upper body. Up to 82% of cases appears uniquely. The eye is the most frequently committed extracutaneous site. The dermoscopy describes a pattern of "setting sun". His prognosis is good and tends to return to the 3-6 years since their appearance. We present this case because the multiple JX is less common to observe that this singular form, and to remember that their association with neurofibromatosis type 1 predisposes to increased risk of developing childhood chronic myeloid leukemia.

Xantogranuloma multiple del adulto: reto diagnostico y terapeutico / Multiple adult xanthogranuloma: a diagnostic and therapeutic challenge

El xantogranuloma m£ltiple del adulto (XMA) es una variante muy pocofrecuente y de inicio tard¡o del xantogranuloma juvenil. A diferencia del xantogranuloma juvenil que se presenta en ni¤os peque¤os y se localiza preferentemente en cabeza y cuello, el XMA se presenta en personas de 20 a 30 a¤os, sin mostrar predilecci¢n por sexo. Las lesiones del xantogranuloma tienden a ser £nicas en un 87% de casos, sin embargo, el paciente que se presenta manifest¢ lesiones m£ltiples y diseminadas en diferentes estadios evolutivos. Se presenta el caso de una paciente mujer de 20 a¤os con un tiempo de enfermedad de cuatro meses que presenta m£ltiples lesiones papulares al inicio eritematosas con superficie brillante, el sticas, no dolorosas que con el tiempo van torn ndose amarillentas a nivel central; las lesiones se diseminan a nivel de extremidades, t¢rax, abdomen y cara, caus ndole gran molestia est‚tica.

Multiple adult xanthogranuloma (XMA) is a rare variant oflate onset of the juvenile xanthogranuloma. Unlike Juvenile xanthogranuloma occurs in young children and is preferentially located in head and neck, the XMA occurs in people 20 to 30 years, showing no sex predilection. Xanthogranuloma lesions tend to be unique in 87% of cases, but our patient showed multiple lesions and scattered in dijferent developmental stages. We report the case of a woman in her 20s who presents for 4 months multiples erythematous papular witli shiny surface, elastic, painless that eventually go at turning yellowisli central lesions spread to the extremities, chest, abdomen and face, causing great discomfort aesthetic.

Xantogranuloma juvenil diseminado con buftalmos, hipema, aumento de presión ocular, en una niña de 4 meses de edad / Disseminated juvenile xanthogranuloma with buphthalmos, hyphema, high intraocular pressure, on a tour month-old infant girl

El xantogranuloma juvenil es un tumor benigno secundario a una proliferación de células histiocíticas que se presenta en lactantes y niños; su aparición en adultos es ocasional. Se inicia en forma repentina por la aparición de lesiones cutáneas papulonodulares rojizo anaranjadas, redondeadas, de 2 a 6 mm, que se localizan preferentemente en cara y parte superior del cuerpo. Se resuelve en forma espontánea en un período variable. Las lesiones suelen estar limitadas a la piel pero pueden tener otra localización. La ocular es una de las que puede presentar severas complicaciones que incluyen glaucoma, hipema, proptosis y amaurosis como en la paciente de 4 meses que presentamos.

Juvenile xantogranuloma (JXG) is a benign tumor due to the prolifera-tion of histiocytic cells, which appears in infants and children and occasionanlly in adults. It has a sudden onset which consists of erythematous or yellowish, papulonodular, slightly raised lesions, with a diameter varying from 2 to 6 mm. It is usually located on the face and upper part of the body, and has a spontaneous remission in a variable period of time. Although lesions are usually limited to the skin, other organs may be involved. Ocular involvement may lead to severe complications including glaucoma, hyphema, proptosis and blindness, as the four months-old patient we report.

Xantogranuloma juvenil: experiencia en un hospital pediátrico / Juvenile xanthogranuloma: experience in a children´hospital

Introducción: El xantogranuloma juvenil (XGJ) es una histiocitosis de células no Langerhans, de curso benigno y autolimitado, que afecta principalmente a lactantes y niños. Los pacientes pueden presentar compromiso extracutáneo, y las localizaciones más frecuentes son ojos, hígado, pulmón y SNC. Objetivos. 1) Conocer las características clínicas de los pacientes con XGJ evaluados en el Servicio de Dermatología del Hospital de Pediatría “Prof. Dr. Juan P Garrahan”. 2) Describir las enfermedades asociadas y las posibles complicaciones. 3) Conocer la evolución de los pacientes. Materiales y métodos. Se realizó un trabajo retrospectivo, observacional y longitudinal, en el que se estudiaron todos los pacientes con diagnóstico clínico e histopatologíco de XGJ desde agosto de 1988 hasta diciembre de 2006. Resultados. Presentaron diagnóstico clínico de XGJ 86 pacientes, se obtuvo la confirmación histológica en 45 de ellos y se excluyó a los 41 pacientes restantes. En el 67% la enfermedad comenzó dentro del primer año de vida. En el 44% las lesiones eran únicas y en el 56% múltiples. La localización más frecuente fue el tronco 41 %, seguido por la extremidad cefálica 33% y miembros 26 %. El compromiso extracutáneo se presentó clínicamente en 4 pacientes (9%): hipema y glaucoma en 3, y compromiso multisistémico en 1. Conclusión: El XGJ es una enfermedad de curso benigno y autorresolutivo, limitada en la mayoría de los casos a la piel, y no requiere tratamiento alguno. Sim embargo debe realizarse un seguimiento clínico multidisciplinario de los pacientes, con el fin de identificar compromiso extracutáneo y sus posibles complicaciones.

Xantogranuloma juvenil: presentación de un caso clínico Hospital Militar "Cap. (Av) Guillermo Hernández Jacobsen": Departamento de Pediatria / Youth xantogranulome: a case report: Hospital Militar Capital (Av) Guillermo Hernández Jacobsen: Department of Pediatrics

Los histiocitos son células móviles que se encuentran en el tejido conectivo y que tienen una gran capacidad de fagocitosis, tanto para ingerir células muertas como bacterias invasoras. Por último se encargan de procesar y presentar los antígenos a los linfocitos para que estos elaboren los anticuerpos protectores. La histiocitosis es una agrupación de enfermedades que tiene como característica principal la proliferación anormal de histiocitos en los tejidos, que puede se de varios tipos, cada uno con sus manifestaciones clínicas específicas. El xantogranuloma juvenil es una enfermedad benigna clasificada como una Histiocitosis no X, que afecta principalmente a niños menores de 1 año, en mayor proporción al género masculino. Se trata de una patología tumoral de células histiocíticas que compromete la piel, y en los casos mas graves puede llagar a tener compromiso en otros órganos, siendo el ocular el mas frecuente. Suele ser autorresolutiva en el transcurso del crecimiento del niño.

Histiocitose cutânea não-Langerhans como causa de diabetes insípido central / Cutaneous non-Langerhans cells histiocytoses as cause of central diabetes inspidus

As histiocitoses são doenças raras, resultantes de alterações na linhagem monocítica-histiocítica, com manifestações clínicas diversas. Entre as síndromes cutâneas de células não-Langerhans, o xantoma disseminado é a única entidade desse grupo classicamente associada ao diabetes insípido central (DIC). O caso clínico relatado refere-se a um paciente de 30 anos de idade que, dois anos após o diagnóstico de DIC, evoluiu com lesões cutâneas papulosas, eritêmato-acastanhadas, difusas, discretas e não confluentes. Os achados histológicos, imuno-histoquímicos e a microscopia eletrônica mostraram resultados compatíveis com a histiocitose de células não-Langerhans e sugestivos do xantogranuloma juvenil. A avaliação endócrino-metabólica não mostrou alterações durante o seguimento por 10 anos, com exceção do DIC. A ressonância magnética da hipófise demonstrou ausência do sinal hiperintenso (mancha brilhante) correspondente à neuro-hipófise. As radiografias e a cintilografia dos ossos não mostraram lesões osteolíticas. Este caso desperta a atenção para a importância do exame da pele nos casos de DIC e de sua associação com a histiocitose de células não-Langerhans de maneira mais ampla, e não restrita aos casos de xantoma disseminado.

The histiocytoses are rare diseases caused by alterations in the monocyte-histiocytic series with several clinical findings. Among the cutaneous syndromes of non-Langerhans cells, xanthoma disseminatum is the only disease of this group that has been classically associated to the central diabetes insipidus (CDI). The case reported describes a 30-year-old man that two years after presenting with CDI developed non confluent disseminated cutaneous brown papular lesions throughout the body. The histopathology, immunohistochemistry, and electronic microscopy were compatible with the diagnosis of non-Langerhans histiocytoses, suggesting the diagnosis of juvenile xanthogranuloma. The endocrine-metabolic evaluation did not show other alterations besides CDI in a 10-year follow up. The magnetic resonance of hypophysis showed absence of the pituitary hyperintense sign (bright spot). The radiologic and scinthigraphic evaluation of the bones did not show the presence of osteolytic lesions. This case prints out the importance of skin examination in cases of CDI and its association with cutaneous non-Langerhans histiocytoses in a broader spectrum, rather then restricted to the cases of xanthoma disseminatum.

FNA of cutaneous juvenile xanthogranuloma--a case report.

A case of cutaneous juvenile xanthogranuloma of the left shoulder in a three years old female which was diagnosed by FNA is presented here. Juvenile xanthogranuloma is a benign lesion of fibrohistiocytic proliferation, often regresses spontaneously, is a self-limiting lesion and should be treated conservatively.

Juvenile Xanthogranuloma as an Isolated Corneoscleral Limbal Mass: a Case Report

A case of a juvenile xanthogranuloma of the corneoscleral limbus was encountered in a 5-year-old oriental boy, who presented with a 5-month history of a lump in the right eye. The lesion extended from the inferior limbus. This yellow-orange mass was vascular and firmly fixed to the underlying tissue. The lesion was diagnosed preoperatively as an atypical dermolipoma and an uneventful excisional biopsy was performed. The pathologic diagnosis showed the characteristic picture of a juvenile xanthogranuloma with numerous Touton giant cells. Dermoid and lipodermoid tumors, as a corneoscleral limbal mass, are the most frequently encountered in childhood. A juvenile xanthogranuloma is a rare and usually benign skin disease with an unknown cause, which occurs in infants and young children. However, it can occur also as a corneoscleral limbal mass in young children.