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ABSTRACT Langerhans cell histiocytosis comprises a heterogeneous range of clinical manifestations secondary to clonal proliferation of histiocytes, characterized by the accumulation of these cells in various organs and tissues. The ophthalmological component commonly involved is the orbit. Herein, we report a rare case of Langerhans cell histiocytosis with eyelid involvement, which resulted in severe ocular surface complications, which subsequently significantly impacted the patient's quality of life. This case report highlights the fact that despite being rare, Langerhans cell histiocytosis should be included in the differential diagnosis of eyelid lesions. Furthermore, a multidisciplinary approach with a systemic overview is crucial for managing the ocular complications.

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ABSTRACT Langerhans cell histiocytosis (LCH) is a disease with unknown etiology. It presents as single-system (affecting a single organ or tissue) or as multisystem (with or without risk organ involvement). The oral cavity may be involved or be the site of the first manifestation Aim To describe, group, and determine the frequency of oral lesions in pediatric patients with LCH, and to relate these lesions to age and the different disease subtypes Materials and Method Clinical and radiographic examinations were used to evaluate 95 patients diagnosed with LCH, aged 0 to 16 years, who were referred to the Department of Comprehensive Pediatric Dentistry at the School of Dentistry, University of Buenos Aires. Clinical histories were prepared and informed consents obtained. Lesions were diagnosed by observation, palpation and biopsies, and grouped according to affected tissues into bone, mucosal, and bone-mucosal Results 42.1% presented oral lesions, and in 14.73%, these lesions were the first manifestation of LCH. Ninety percent presented only bone lesions, while the remaining 10% presented bone-mucosal and mucosal lesions. In the single-system subtype, 52.5% presented bone lesions. In the multisystem subtypes (with or without risk organs), all three types of lesions were found. The association between age at which LCH was diagnosed and oral tissue involvement showed that bone-mucosal lesions occur in young children (average age 1.4 years) diagnosed with multisystem LCH. Oral mucosa was only affected in reactivations of the disease Conclusions A high frequency of oral lesions was observed, which were sometimes the first manifestation of the disease, most often affecting bone tissue. Dentists can play an active role in the initial diagnosis of the disease.

RESUMEN La Histiocitosis de células de Langerhans (LCH) (Langerhans cell histiocytosis) es una enfermedad de etiología aún desconocida. Se presenta en forma unisistémica (afecta un solo órgano o tejido) o multisistémica (con o sin órganos de riesgo afectados). La cavidad bucal puede estar comprometida o ser el sitio de la primera manifestación Objetivo describir, agrupar y determinar la frecuencia de las lesiones bucales de pacientes pediátricos con LCH, relacionarlas con la edad y los diferentes subtipos de la enfermedad Materiales y Método se evaluaron mediante exámenes clínicos y radiográficos 95 pacientes entre 0 y 16 años con diagnóstico de LCH, derivados a la Cátedra de Odontología Integral Niños, Facultad de Odontología, Universidad de Buenos Aires. Se confeccionaron historias clínicas y se obtuvieron los consentimientos informados. Las lesiones fueron diagnosticadas a través de observación, palpación y biopsias, y se agruparon según los tejidos afectados en óseo, mucoso y óseo-mucoso Resultados el 42.1% presentó lesiones bucales y en el 14.73% estas fueron la primera manifestación de LCH. El 90% mostró solo lesiones óseas, mientras que en el 10 % restante se observaron lesiones óseo-mucosas y mucosas. En el subtipo unisistémico el 52.5% presentó lesiones óseas. En los subtipos multisistémicos, "con" o "sin" órganos de riesgo, se hallaron los tres tipos de lesiones. La relación entre la edad de diagnóstico de LCH y el compromiso de tejidos bucales evidenció que las lesiones óseo-mucosas ocurren en niños pequeños (edad promedio 1.4 años) con diagnóstico de LCH multisistémica. La mucosa bucal solo se vio afectada en las reactivaciones de la enfermedad Conclusiones Se observó una alta frecuencia de lesiones bucales, siendo en ocasiones la primera manifestación de la enfermedad, afectando con mayor frecuencia al tejido óseo. El odontólogo puede desempeñar un rol activo en el diagnóstico inicial de la enfermedad.

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Langerhans cell histiocytosis (LCH) is a disease with unknown etiology. It presents as single-system (affecting a single organ or tissue) or as multisystem (with or without risk organ involvement). The oral cavity may be involved or be the site of the first manifestation. Aim: To describe, group, and determine the frequency of oral lesions in pediatric patients with LCH, and to relate these lesions to age and the different disease subtypes. Materials and Method: Clinical and radiographic examinations were used to evaluate 95 patients diagnosed with LCH, aged 0 to 16 years, who were referred to the Department of Comprehensive Pediatric Dentistry at the School of Dentistry, University of Buenos Aires. Clinical histories were prepared and informed consents obtained. Lesions were diagnosed by observation, palpation and biopsies, and grouped according to affected tissues into bone, mucosal, and bone-mucosal. Results: 42.1% presented oral lesions, and in 14.73%, these lesions were the first manifestation of LCH. Ninety percent presented only bone lesions, while the remaining 10% presented bone-mucosal and mucosal lesions. In the single-system subtype, 52.5% presented bone lesions. In the multisystem subtypes (with or without risk organs), all three types of lesions were found. The association between age at which LCH was diagnosed and oral tissue involvement showed that bone-mucosal lesions occur in young children (average age 1.4 years) diagnosed with multisystem LCH. Oral mucosa was only affected in reactivations of the disease. Conclusions: A high frequency of oral lesions was observed, which were sometimes the first manifestation of the disease, most often affecting bone tissue. Dentists can play an active role in the initial diagnosis of the disease.

La Histiocitosis de células de Langerhans (LCH) (Langerhans cell histiocytosis) es una enfermedad de etiología aún desconocida. Se presenta en forma unisistémica (afecta un solo órgano o tejido) o multisistémica (con o sin órganos de riesgo afectados). La cavidad bucal puede estar comprometida o ser el sitio de la primera manifestación. Objetivo: describir, agrupar y determinar la frecuencia de las lesiones bucales de pacientes pediátricos con LCH, relacionarlas con la edad y los diferentes subtipos de la enfermedad. Materiales y Método: se evaluaron mediante exámenes clínicos y radiográficos 95 pacientes entre 0 y 16 años con diagnóstico de LCH, derivados a la Cátedra de Odontología Integral Niños, Facultad de Odontología, Universidad de Buenos Aires. Se confeccionaron historias clínicas y se obtuvieron los consentimientos informados. Las lesiones fueron diagnosticadas a través de observación, palpación y biopsias, y se agruparon según los tejidos afectados en óseo, mucoso y óseo-mucoso. Resultados: el 42.1% presentó lesiones bucales y en el 14.73% estas fueron la primera manifestación de LCH. El 90% mostró solo lesiones óseas, mientras que en el 10 % restante se observaron lesiones óseo-mucosas y mucosas. En el subtipo unisistémico el 52.5% presentó lesiones óseas. En los subtipos multisistémicos, "con" o "sin" órganos de riesgo, se hallaron los tres tipos de lesiones. La relación entre la edad de diagnóstico de LCH y el compromiso de tejidos bucales evidenció que las lesiones óseo-mucosas ocurren en niños pequeños (edad promedio 1.4 años) con diagnóstico de LCH multisistémica. La mucosa bucal solo se vio afectada en las reactivaciones de la enfermedad. Conclusiones: Se observó una alta frecuencia de lesiones bucales, siendo en ocasiones la primera manifestación de la enfermedad, afectando con mayor frecuencia al tejido óseo. El odontólogo puede desempeñar un rol activo en el diagnóstico inicial de la enfermedad.

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Introducción: Las histiocitosis son enfermedades raras, caracterizadas por la infiltración tisular de histiocitos anormales. Se dividen en cinco grupos. Son frecuentes en la población pediátrica. La combinación de la histiocitosis de células de Langerhans e histiocitosis de células no-Langerhans es fortuita. Reporte de caso: Se reporta el caso de una paciente de 66 años que debutó con un cuadro de compromiso sistémico, del que llamó la atención la presencia de masas tumorales en la cara anterior de las piernas, dolor óseo generalizado y alteraciones endocrinológicas. Se planteó el diagnóstico de histiocitosis mixta. Se sugirió tratamiento con: anticuerpos monoclonales anti BRAF V600E, interferón alfa y/o quimioterapia. Conclusión: Es posible realizar el diagnóstico de histiocitosis a partir de los antecedentes personales patológicos del paciente y los hallazgos clínicos manifiestos con el apoyo de estudios radiológicos, histológicos e inmunohistoquímicos. Finalmente, este es el primer caso de histiocitosis mixta publicado en Ecuador.

Introduction: Histiocytoses are rare diseases characterized by tissue infiltration by abnormal histiocytes. They are divided into five groups. They are frequent in the pediatric population. The combination of Langerhans cell histiocytosis and non-Langerhans cell histiocytosis is fortuitous. Case report: We report the case of a 66-year-old female patient who debuted with a history of systemic involvement, in which the presence of tumor masses on the anterior aspect of the legs, generalized bone pain and endocrinological alterations attracted our attention. The diagnosis of mixed histiocytosis was suggested. Treatment with anti BRAF V600E monoclonal antibodies, interferon alpha and/or chemotherapy was recommended. Conclusion: It is possible to make the diagnosis of histiocytosis based on the patient's personal pathological history and the clinical findings with the support of radiological, histological and immunohistochemical studies. Finally, this is the first case of mixed histiocytosis published in Ecuador.

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Resumen La histiocitosis de células de Langerhans comprende un grupo heterogéneo de enfermedades inflamatorias cuyos principales componentes celulares son las células dendríticas y los macrófagos. El infiltrado inflamatorio puede afectar la piel y otros órganos, y el resultado clínico varía de leve a letal, dependiendo del subconjunto de células involucradas y el compromiso multisistémico. La demora en el diagnóstico puede ocurrir debido a su presentación inespecífica y a que los médicos tratantes no suelen sospecharla. Se reporta el caso de una lactante mayor a la cual, a pesar de múltiples consultas con síntomas inespecíficos pero característicos de la enfermedad, solamente se le pudo hacer el diagnóstico gracias a los hallazgos histopatológicos.

Abstract Histiocytosis comprises a heterogeneous group of inflammatory diseases whose main cellular components are dendritic cells and macrophages. The inflammatory infiltrate can affect the skin and other organs and the clinical outcome varies from mild to fatal depending on the involved cell subset and multisystemic compromise. Delay in diagnosis may occur due to its non-specific presentation and to a low suspicion on the part of the clinician. We report the case of an infant who despite multiple consultations with nonspecific but characteristic symptoms of the disease was only finally diagnosed thanks to histopathological findings.

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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.

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Langerhans cell histiocytosis (LCH), a disorder of antigen-presenting cells, is the commonest disorder of the mononuclear phagocytic system. Diagnosis is always challenging due to heterogeneous clinical presentation. However, with the evolution and better understanding of its biology, many of these children are being diagnosed early and offered appropriate therapy. Despite these advances, in developing countries, an early diagnosis is still challenging due to resource constraints for specialized tests. As a result, many patients succumb to their disease. Autopsy data on LCH is notably lacking in the literature. We sought to analyze the clinical (including mutational) and morphologic features at autopsy in six proven cases of LCH. This study includes a detailed clinico-pathological and mutational analysis of 6 proven cases of LCH. Presence of BRAF V600E mutation was assessed by both Real Time PCR and Sanger sequencing. A varied spectrum of organ involvement was noted with some rare and novel morphological findings, like nodular bronchiolocentric infiltration of LCH cells, lymphovascular emboli of LCH cells, and paucity of eosinophils within the infiltrate; these features have not been described earlier. Surprisingly, all cases were negative for BRAF V600E mutation on both RQ-PCR and Sanger sequencing. The present study is perhaps the first autopsy series on LCH. This extensive autopsy analysis represents a correlation of pathological features with clinical symptoms which provides clues for a timely diagnosis and appropriate therapeutic intervention. Also, our findings hint at the low frequency of BRAF V600E mutation in our LCH patients.

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Langerhans cell histiocytosis (LCH), a disorder of antigen-presenting cells, is the commonest disorder of the mononuclear phagocytic system. Diagnosis is always challenging due to heterogeneous clinical presentation. However, with the evolution and better understanding of its biology, many of these children are being diagnosed early and offered appropriate therapy. Despite these advances, in developing countries, an early diagnosis is still challenging due to resource constraints for specialized tests. As a result, many patients succumb to their disease. Autopsy data on LCH is notably lacking in the literature. We sought to analyze the clinical (including mutational) and morphologic features at autopsy in six proven cases of LCH. This study includes a detailed clinico-pathological and mutational analysis of 6 proven cases of LCH. Presence of BRAF V600E mutation was assessed by both Real Time PCR and Sanger sequencing. A varied spectrum of organ involvement was noted with some rare and novel morphological findings, like nodular bronchiolocentric infiltration of LCH cells, lymphovascular emboli of LCH cells, and paucity of eosinophils within the infiltrate; these features have not been described earlier. Surprisingly, all cases were negative for BRAF V600E mutation on both RQ-PCR and Sanger sequencing. The present study is perhaps the first autopsy series on LCH. This extensive autopsy analysis represents a correlation of pathological features with clinical symptoms which provides clues for a timely diagnosis and appropriate therapeutic intervention. Also, our findings hint at the low frequency of BRAF V600E mutation in our LCH patients.

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Abstract: Agminated nevus refers to the presence of multiple nevi grouped in a circumscribed skin area; it is rarely reported in the literature. This report presents the case of a 10-year-old female patient with a history of Langerhans cell histiocytosis, who presents multiple nevi in the lumbar and inguinal region. In the histopathological study, an atypical melanocytic nevus was reported. Wood's lamp examination discarded the presence of nevus spilus, and the diagnosis of agminated nevus was reached. The association of this type of nevus with Langerhans cell histiocytosis is rare, and only four cases were found reported in the indexed literature. The reason for this association is unknown, thus a new theory about its origin is presented here.

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ABSTRACT Langerhans cell histiocytosis (LCH) is characterised by an abnormal histiocytic accumulation in tissues such as the lung, spleen, bone marrow, skin, central nervous system, liver and lymph nodes, causing focal or systemic effects. No specific clinical & radiographic presentation of LCH is described in literature. This poses a diagnostic dilemma for surgeons. The scapula is the site of 3% of bone tumours, while for LCH it is the least common site. In a 10-year-old boy with isolated lesion of the scapula with no other systemic involvement, and no specific finding in MRI or CT scan of scapula, diagnosis was confirmed on biopsy. Division into single and multi-system disease is paramount in treatment, given that it is a single system disease. The patient improved clinically on follow-up of 2 years. The scapula is one of the rarest site of LCH, and because various lesions mimic each other, a biopsy is always required, with immunohistochemistry for CD68 & S-100. This was only a single system disease, so conservative management was performed, and the patent improved clinically.

RESUMO A histiocitose de células de Langerhans (HCL) caracteriza-se por acúmulo anormal de histiócitos em tecidos como pulmão, baço, medula óssea, pele, sistema nervoso central, fígado e linfonodos, causando efeitos focais ou sistêmicos. Nenhuma apresentação clínica e radiográfica específica da HCL está descrita na literatura. Isso impõe um dilema diagnóstico para os cirurgiões. A escápula é o local de 3% dos tumores ósseos, ao passo que é o lugar menos comum para a HCL. Em um menino de 10 anos de idade, com lesão isolada na escápula e sem outro envolvimento sistêmico, sem achados específicos na RM ou na TC da escápula, o diagnóstico foi confirmado pela biópsia. A divisão entre doença isolada e de múltiplos sistemas é fundamental para o tratamento, considerando-se que este caso é uma doença de um só sistema. O paciente teve melhora clínica no acompanhamento de dois anos. A escápula é um dos locais mais raros de ocorrência da HCL, e como as lesões mimetizam umas às outras, sempre é preciso realizar biópsia por imuno-histoquímica para CD68 e S-100. Esta doença atingiu apenas um sistema, levando ao tratamento conservador e o paciente apresentou melhora clínica.

RESUMEN La histiocitosis de células de Langerhans (HCL) se caracteriza por la acumulación anormal de histiocitos en tejidos como pulmón, bazo, médula ósea, piel, sistema nervioso central, hígado y linfonodos, causando efectos focales o sistémicos. Ninguna presentación clínica y radiográfica específica de la HCL está descrita en la literatura. Eso impone un dilema diagnóstico para los cirujanos. La escápula es el local de 3% de los tumores óseos, al paso que es el lugar menos común para la HCL. En un niño de 10 años de edad, con lesión aislada en la escápula y sin otro compromiso sistémico, sin hallazgos específicos en la RM o en la TC de la escápula, el diagnóstico fue confirmado por la biopsia. La división entre enfermedad aislada y de múltiples sistemas es fundamental para el tratamiento, considerándose que este caso es una enfermedad de un único sistema. El paciente tuvo mejora clínica en el acompañamiento de dos años. La escápula es uno de los locales más raros de ocurrencia de la HCL, y como las lesiones mimetizan unas a otras, siempre es preciso realizar biopsia por inmunohistoquímica para CD68 y S-100. Esta enfermedad alcanzó a sólo un sistema, llevando al tratamiento conservador y el paciente presentó mejora clínica.

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Abstract: Histiocytoses are rare diseases caused by the proliferation of histiocytes. The pathogenesis remains unknown and the highest incidence occurs in pediatric patients. The clinical presentations can be varied, in multiple organs and systems, and the skin lesions are not always present. Evolution is unpredictable and treatment depends on the extent and severity of the disease. It is described the case of a patient with various neurological symptoms, extensively investigated, who had its was diagnosed with histiocytosis from a single skin lesion. This report highlights the importance of Dermatology in assisting the investigation of difficult cases in medical practice.

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RESUMO Objetivo: Relatar um caso de histiocitose de células de Langerhans autolimitada e de início tardio. Descrição do caso: Paciente com 4 meses e meio de idade do sexo feminino, apresentando uma erupção cutânea eritematosa purpúrea, foi submetida a uma biópsia de pele, sendo diagnosticada com histiocitose de células de Langerhans cutânea isolada. As lesões regrediram em poucos meses e ela foi diagnosticada, retrospectivamente, com histiocitose de células de Langerhans autolimitada e de início tardio, após não apresentar nenhum envolvimento cutâneo ou sistêmico durante um seguimento de quatro anos. Comentários: A histiocitose de células de Langerhans autolimitada caracteriza-se pela proliferação clonal das células de Langerhans e apresenta-se com lesões cutâneas, sendo uma variante autolimitada rara de histiocitose. A doença só pode ser diagnosticada de forma retrospectiva, após o paciente não apresentar nenhum envolvimento sistêmico durante vários anos. Embora existam casos de manifestações ao nascimento ou durante o período neonatal, apenas alguns casos de histiocitose de células de Langerhans de idade tardia foram relatados. Lesões purpúreas que aparecem após o período neonatal podem sugerir histiocitose de células de Langerhans autolimitada e de início tardio. Uma vez confirmado o diagnóstico por biópsia cutânea, tais pacientes devem ser acompanhados regularmente, pois pode haver comprometimento sistêmico.

ABSTRACT Objective: To report a case of late-onset self-healing Langerhans cell histiocytosis. Case description: A 4½-month-old female patient presenting with an eythematopurpuric eruption underwent a skin biopsy for histopathology and was first diagnosed with isolated cutaneous Langerhans cell histiocytosis. Her lesions regressed within a few months and she was retrospectively diagnosed with late-onset self-healing Langerhans cell histiocytosis after being without skin or systemic involvement in a follow-up four years later. Comments: Self-healing Langerhans cell histiocytosis, which is characterized by clonal proliferation of Langerhans cells and presents with cutaneous lesions, is a rare self-limited variant of histiocytosis and can only be diagnosed retrospectively, after the patient remains free from systemic involvement for several years. Although it presents at birth or during the neonatal period, only a few cases of its late-onset type regarding the age of onset have been reported. Purpuric lesions that appear after the neonatal period serve as a clue for late-onset self-healing Langerhans cell histiocytosis and the patients should be monitored regularly for systemic involvement if the diagnosis is confirmed by a cutaneous biopsy.

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Abstract: Langerhans cell histiocytosis is rare and more frequent in children. The skin is affected in 50% of the cases and is the only site in 10%. Its course varies from self-limited and localized forms to severe multisystemic forms. Congenital cases are usually exclusively cutaneous and self-limited, with spontaneous remission in months. This study presents a rare congenital case, initially restricted to the skin, with subsequent dissemination and fatal outcome. A male newborn presented congenital disseminated erythematous scaly lesions. The biopsy was conclusive for Langerhans cell histiocytosis. The patient evolved into the multisystemic form in weeks, when chemotherapy was started, according to the LCH-2009 protocol; however, the patient was refractory to treatment and died.

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Inhalation of tobacco smoke is a risk factor for developing respiratory diseases as chronic obstructive pulmonary disease, lung cancer and many cardiovascular diseases. Recently, a new group of interstitial lung diseases (ILD) related to cigarette smoking (SR-ILD) have been described. This group includes pulmonary Langerhans cell histiocytosis, respiratory bronchiolitis, smoking-associated interstitial fibrosis, desquamative interstitial pneumonia. The diagnosis is usually difficult, and the use ofsome clinical clues, high-resolution computerized tomography, and histopathologic findings in lung biopsy could help to differentiate between the various entities. We present a report of clinical cases of patients with SR-ILD seen in our center, and a review of the literature of the above entities.

La inhalación del humo de tabaco es un factor de riesgo conocido para el desarrollo de enfermedades respiratorias como la enfermedad pulmonar obstructiva crónica, el cáncer pulmonar y algunas enfermedades cardiovasculares. Se ha descrito un grupo de enfermedades pulmonares difusas (EPD), particularmente asociadas al tabaquismo (EPD-TBQ), entre ellas, la histiocitosis pulmonar de Langerhans (PLCH), la bronquiolitis respiratoria (BR), la neumonía intersticial descamativa (DIP) y recientemente la fibrosis intersticial relacionada a tabaco (SRIF). El diagnóstico suele ser complejo, y la utilización de algunas claves diagnósticas, en conjunto a la tomografía computarizada de tórax de alta resolución y los hallazgos histopatológicos de la biopsia pulmonar, pueden ayudar a diferenciar entre las distintas entidades. Se presenta a continuación, una serie de viñetas clínicas de pacientes con EPD-TBQ, atendidos en nuestro centro, y una revisión de la bibliografía sobre cada una de ellas.

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Temporal bone involvement in Langerhans Cell Histiocytosis (LCH) is the second most common site of involvement in the head and neck area, with the mastoid and squamous portion of the bone as the most frequent site where LCH manifests. Since there are not many cases reported in the literature, it is possible to state that primary manifestation of histiocytosis affecting the inner ear structures is uncommon. This article reports the case of a patient with involvement of the petrous apex of the temporal bone that was referred to the Fundación Hospital de la Misericordia, and carries out a literature review in order to discuss the manifestation, treatment and outcome of this disease.

El compromiso del hueso temporal en la histiocitosis de células de Langerhans (HLC) es el segundo en frecuencia en el área de cabeza y cuello, siendo los sitios de mayor presentación la porción mastoidea y escamosa del hueso. La presentación primaria de la histiocitosis que afecta las estructuras del oído interno es poco frecuente, pues no hay muchos casos reportados en la literatura. En este artículo, se presenta un reporte de caso de compromiso del ápex petroso del temporal en una paciente remitida a la Fundación Hospital de La Misericordia y se realiza una revisión de la literatura para socializar la presentación de la enfermedad, su tratamiento y desenlace.

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Langerhans cell histiocytosis is a rare, clinically heterogeneous desease. Since there is considerable clinical overlap among the four described variants (Hand-Schüller-Christian, eosinophilic granuloma, Letterer-Siwe and Hashimoto-Pritzker), the concept of spectral disease applies to this entity. The Hashimoto-Pritzker variant was first described in 1973. Characteristically, it is present at birth or during the first days of life, impairment is limited to the skin and prognosis is favorable with spontaneous resolution. We report a newborn male patient with Hashimoto-Pritzker disease presenting as a S100 + and CD1a + single congenital perianal lesion with rapid involution in two months.

A histiocitose de células de Langerhans é doença rara, clinicamente heterogênea. Como há considerável sobreposição clínica entre as quatro variantes descritas (Hand-Schüller-Christian, granuloma eosinofílico, Letterer-Siwe e Hashimoto-Pritzker), o conceito de doença espectral aplica-se a esta entidade. A variante de Hashimoto-Pritzker foi descrita em 1973. Classicamente, está presente ao nascimento ou nos primeiros dias de vida, acomete exclusivamente a pele e o prognóstico é favorável, com regressão espontânea. Relatamos caso de paciente recém-nascido, masculino, com doença de Hashimoto-Pritzker, que se apresenta com positividade para S100 e CD1a, observando-se lesão congênita única perianal com involução rápida em dois meses.

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A histiocitose de células de Langerhans é representante de um raro grupo de síndromes histiocitárias, sendo caracterizada pela proliferação das células de Langerhans. Suas manifestações variam de lesão solitária a envolvimento multissistêmico, sendo o acometimento vulvar incomum. Segue-se o relato de caso refratário da doença limitada à pele, em mulher de 57 anos. A paciente apresentava história de pápulas eritematosas ulceradas em couro cabeludo, face, vulva, tronco e axila há seis anos. O diagnóstico da doença é difícil, sendo confirmado neste caso através de estudo imuno-histoquímico e se obteve resposta terapêutica e eficaz, com a administração de talidomida.

Langerhans cell histiocytosis is a member of a group of rare histiocytic syndromes and is characterized for the proliferation of histiocytes called Langerhans'cells. Its manifestations vary from a solitary injury to systemic involvement, and vulvar lesions are uncommon. We describe a refractory case of cutaneous limited disease in a 57-year-old woman. She presented with a 6-year history of an erythematous papular eruption of the scalp, face, vulva, trunk and axillae. The diagnosis is difficult and in this case it was confirmed through immunohistochemical study and clinical improvement was achieved with thalidomide.

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Fundamento: la histiocitosis de células de Langerlhans o también conocido como Histiocitosis X es un grupo de enfermedades entre las cuales se encuentran el Granuloma Eosinofílico, la enfermedad de Hand-Schüller y la enfermedad de Letterer-Siwe, con este término se identifica un grupo de alteraciones que tienen en común la proliferación de células dendríticas y los macrófagos, se diagnostican con más frecuencia en niños. Dentro de las relacionadas con las células dendríticas las fundamentales son las histiocitosis o células de Langerhans. Las histiocitosis de células de Langerhans tienen un comportamiento clínico muy variable, puede ir desde una lesión que involucra un solo sitio o sistema hasta una enfermedad multisistémica. Caso Clínico: se presentaron tres casos portadores de histiocitosis de células de Langerhans con manifestaciones diferentes. Se demuestra la importancia de los estudios histológicos y la utilización de tomografía computarizada por su especificidad y sensibilidad como método diagnóstico. Conclusiones: en los pacientes se observaron lesiones localizadas o generalizadas en los casos presentados, se localizaron en cráneo y cara; y las sistémicas en glándulas salivales mayores, cuello, tórax y en la piel. La presencia de múltiples lesiones y el estudio histopatológico demostraron que se trataba de una histiocitosis X.

Background: histiocytosis of Langerhans´cell´s or also known as histiocytosis X is a group of diseases among which are found eosinophilic granuloma, Hand-Schüller disease and Letterer-Siwe disease. With this term is identified a group of alterations that have in common the proliferation of dendritic cells´ and macrophages, that are diagnosed with more frequency in children. Within dendritic cells´, histiocytosis or Langerhans´cell´s are the most important. Histiocytosis of Langerhans´cell´s has a very variable clinical behavior that may go from a lesion that involves a single site or system until a multisystemic disease. Clinical case: three cases carrier of histiocytosis of Langerhans´ cells with different manifestations were presented. It is demonstrated the importance of histological studies and the use of computed tomography by its specificity and sensibility as diagnostic method. Conclusions: located or generalized lesions in the presented cases were observed, they were located in skull and face; and the systemic ones in salivary glands, neck, and thorax and in the skin. The presence of multiple lesions and the histopatological study demonstrated it was a histiocytosis X.

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Apresentamos um caso no qual foi realizada orbitotomia de urgência em paciente com granuloma de células de Langerhans intraorbitário o qual apresentava comprometimento anatômico e funcional da função visual devido à hipertensão intraorbitária. Paciente masculino, 2 anos, apresentou exoftalmia, proptose conjuntival, olho vermelho, oftalmoplegia completa com midríase não fotorreativa e ptose palpebral direita. À fundoscopia apresentava engurgitamento venoso com edema de papila à direita. Foi realizada abordagem cirúrgica com orbitotomia via intracraniana sendo removida a lesão com remissão total da clínica tanto anatômica quanto funcionalmente. O manejo do granuloma de células de Langerhans pode variar desde a abordagem cirúrgica primária, passando pela terapia com esteróides até quimioterapia e radioterapia. No caso, a cirurgia foi a primeira opção devido ao e iminente risco de perda da função visual.

We present a case in which a patient with intraorbital Langerhans' cell granuloma, with anatomical and functional skills compromised by intraorbital hypertension, which was treated with urgency orbitotomy by cranial approach. Male, two years-old, presented conjuntival proptosis, red eye, complete ophthalmoplegy, exophthalmos, with non-fotoreactive mydriasis and blepharoptosis of the right eye. Fundoscopy presented venous enlargement with optic disc edema. A cranial approach with orbitotomy was carried out, removed the lesion with total remission of clinical presentation and anatomic appearance as well. The handling of Langerhans' cell granuloma can vary from primary surgical approach as corticotherapy to chemotherapy and radiotherapy. In this case, the surgery was the first option due to the imminent risk of loss of visual function.

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OBJETIVO: Relatar, de forma retrospectiva, a experiência no diagnóstico e tratamento do granuloma eosinofílico da órbita em serviço de referência. MÉTODOS: Identificados os pacientes com diagnóstico de granuloma eosinofílico orbitário, no Registro do Laboratório de Patologia Ocular do Hospital Universitário Professor Edgard Santos, Universidade Federal da Bahia, no período entre 1974 e 2004. Coletados dados referentes ao diagnóstico, tratamento e realizada revisão das lâminas coradas pela hematoxilina e eosina. RESULTADOS: Foram identificados 3 casos com idade de 1, 6 e 11 anos. Em nenhum caso o diagnóstico de granuloma eosinofílico foi aventado pré-operatoriamente. Todos pacientes foram submetidos a biópsia, exibindo aspecto anatomopatológico típico. Em um dos casos, após a biópsia, havia tomografia computadorizada da órbita disponível, exibindo padrão característico. Todos os pacientes foram tratados com corticoesteróides sistêmicos, com resolução do tumor orbitário. CONCLUSÃO: Trata-se de doença rara, de difícil diagnóstico clínico sem avaliação radiológica. Apesar da grande destruição tecidual, apresenta boa resposta ao tratamento com corticoesteróides.

PURPOSE:To report the retrospective experience of a reference center in the diagnosis and treatment of orbital eosinophilic granuloma. METHODS: A review of the files in the Opththalmic Pathology Laboratory, of the Hospital Universitário Professor Edgard Santos, Universidade Federal da Bahia, between 1974 and 2004, was conducted to identify cases of orbital eosinophilic granuloma. Data of diagnosis and treatment were collected. The hematoxilin and eosin stained sections were reviewed. RESULTS: Three cases with ages of 1, 6 and 11 years were retrieved. In none of them the clinical diagnosis of eosinophilic granuloma was suspected. All patients underwent diagnostic biopsy with characteristic histological aspect. In one case a orbital computed tomography after biopsy exhibited typical findings. All patients improved with systemic steroids./ CONCLUSIONS: This is a rare disease, with a difficult clinical diagnosis if radiological evaluation is not available. In spite of its aggressiveness at presentation, the disease shows good response to systemic steroids.

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