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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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La histiocitosis de células de Langerhans es una expresión de células dendríticas mieloides, asociada a un componente inflamatorio significativo y compromiso sistémico variado. La edad más frecuente de presentación es entre 1 y 4 años, y predomina en el sexo masculino. Se comunica el caso de un niño de 5 años de edad cuya forma de presentación fue una lesión granulomatosa con fístula perianal, afectación pulmonar y de oído externo. El abordaje interdisciplinario permitió llegar al diagnóstico, realizar las intervenciones necesarias e iniciar el tratamiento adecuado.
Langerhans cell histiocytosis is an expression of myeloid dendritic cells, associated with a significant inflammatory component and varied systemic involvement. The most common age at presentation is between 1 and 4 years, and it prevails among male subjects. Here we describe the case of a 5-year-old boy who presented with a granulomatous lesion with perianal fistula and lung and external ear involvement. An interdisciplinary approach helped to make a diagnosis, provide the necessary interventions, and start an adequate treatment.
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Humanos , Masculino , Pré-Escolar , Histiocitose de Células de Langerhans/complicações , Histiocitose de Células de Langerhans/diagnóstico , Diagnóstico DiferencialRESUMO
Introduction Langerhans cell histiocytosis (LCH) is a rare proliferative systemic disease characterized by the growth of abnormal dendritic cells and wide-ranging organ involvement. This condition can affect individuals of all ages, but most commonly children, with a peak incidence in toddlers. Symptoms may vary depending on the affected organ or system. Case Report A 43-year-old man presented with a left temporal stabbing headache unresponsive to management with therapy and nonsteroidal anti-inflammatory drugs. Initial evaluation revealed a contrast-enhanced left temporal extra-axial lesion with bone and muscle compromise. Differential diagnoses, including multiple myeloma, were explored. Initial laboratory tests and imaging studies showed no other abnormalities, except for splenomegaly and a residual granuloma in the left lung. En bloc resection of the lesion was recommended. The patient underwent surgical intervention, which included resection of the dural lesion and all borders of an infiltrating tumor within the temporalis muscle and the affected portion of the left temporal bone. Posterior pathological examination revealed LCH. Postoperative course was uneventful. Follow-up appointments were scheduled after pathology results confirmed the diagnosis. Patient has continued follow-up for the following 3 months after the surgical procedure. Further evaluations are pending. Discussion This case report corresponds to a patient with LCH. These patients are individualized and stratified based on local or systemic involvement to determine the most appropriate type of management. This is a rare case as LCH is rare in older patients and the initial presented lesion initially mimicked a meningioma; however, its atypical behavior and associated lytic compromise led to consideration of possible differential diagnoses. Conclusion LCH can present with lytic bone lesions, mimicking other conditions, including infiltrative neoplastic lesions. Early diagnosis and appropriate surgical management are essential for optimal patient outcomes. Long-term follow-up is crucial to monitor disease progression and response to treatment.
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Langerhans cell histiocytosis (LCH) is characterized by an expansion and accumulation of pathological histiocytes expressing langerin (CD207) and CD1a in different organs under an inflammatory milieu. The origin of pathognomonic precursors of LCH is widely debated, but monocytes and pre-dendritic cells (pre-DC) play a significant role. Remarkably, we found an expansion of AXLhigh cells in the CD11c+ subset of patients with active LCH, which also express the pathognomonic CD207 and CD1a. Moreover, we obtained a monocyte-derived LC-like (mo-LC-like) expressing high levels of AXL when treated with inflammatory cytokine, or plasma of patients with active disease. Intriguingly, inhibiting the mTOR pathway at the initial stages of monocyte differentiation to LC-like fosters the pathognomonic LCH program, highly increasing CD207 levels, together with NOTCH1 induction. We define here that AXLhigh could also be taken as a strong pathognomonic marker for LCH, and the release of Langerin and NOTCH1 expression depends on the inhibition of the mTOR pathway.
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Antígenos CD , Receptor Tirosina Quinase Axl , Histiocitose de Células de Langerhans , Lectinas Tipo C , Lectinas de Ligação a Manose , Proteínas Proto-Oncogênicas , Receptores Proteína Tirosina Quinases , Serina-Treonina Quinases TOR , Feminino , Humanos , Masculino , Antígenos CD/metabolismo , Antígenos CD1/metabolismo , Biomarcadores , Diferenciação Celular , Histiocitose de Células de Langerhans/metabolismo , Lectinas Tipo C/metabolismo , Lectinas de Ligação a Manose/metabolismo , Monócitos/metabolismo , Monócitos/imunologia , Células Mieloides/metabolismo , Proteínas Proto-Oncogênicas/metabolismo , Proteínas Proto-Oncogênicas/genética , Receptores Proteína Tirosina Quinases/metabolismo , Receptor Notch1/metabolismo , Transdução de Sinais , Serina-Treonina Quinases TOR/antagonistas & inibidores , Serina-Treonina Quinases TOR/metabolismoRESUMO
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.
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Xantogranuloma Juvenil , Humanos , Xantogranuloma Juvenil/patologia , Xantogranuloma Juvenil/congênito , Masculino , LactenteRESUMO
Erdheim-Chester disease (ECD) is a rare multisystem disorder characterized by mitogen-activated protein kinase (MAPK) pathway mutations. Herein, we present a unique case of ECD in a 79-year-old female with predominant breast nodules. Comprehensive imaging and histopathological evaluations confirmed the diagnosis. Mammography and ultrasonography revealed multiple hyperdense circumscribed nodules with coalescing masses and blurred margins. Core biopsy revealed infiltrating foamy cluster of differentiation (CD) 68+ and CD1a+ histiocytes. Because the tumor was negative for the BRAF V600E mutation, treatment with interferon-α was initiated. This case highlights the diagnostic challenges associated with ECD, the rarity of breast involvement, and the importance of considering ECD in the differential diagnosis of atypical breast lesions. Comprehensive imaging, histopathology, and genetic testing are essential for accurate diagnosis and treatment decision-making in ECD. Further research and awareness are required to improve recognition and management of this rare disease.
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Langerhans cell histiocytosis is an expression of myeloid dendritic cells, associated with a significant inflammatory component and varied systemic involvement. The most common age at presentation is between 1 and 4 years, and it prevails among male subjects. Here we describe the case of a 5-year-old boy who presented with a granulomatous lesion with perianal fistula and lung and external ear involvement. An interdisciplinary approach helped to make a diagnosis, provide the necessary interventions, and start an adequate treatment.
La histiocitosis de células de Langerhans es una expresión de células dendríticas mieloides, asociada a un componente inflamatorio significativo y compromiso sistémico variado. La edad más frecuente de presentación es entre 1 y 4 años, y predomina en el sexo masculino. Se comunica el caso de un niño de 5 años de edad cuya forma de presentación fue una lesión granulomatosa con fístula perianal, afectación pulmonar y de oído externo. El abordaje interdisciplinario permitió llegar al diagnóstico, realizar las intervenciones necesarias e iniciar el tratamiento adecuado.
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Histiocitose de Células de Langerhans , Humanos , Masculino , Lactente , Pré-Escolar , Histiocitose de Células de Langerhans/complicações , Histiocitose de Células de Langerhans/diagnóstico , Diagnóstico DiferencialRESUMO
ABSTRACT A 42-year-old woman presented with bilateral proptosis, chemosis, leg pain, and vision loss. Orbital, chorioretinal, and multi-organ involvement of Erdheim-Chester disease, a rare non-Langerhans histiocytosis, with a negative BRAF mutation was diagnosed based on clinical, radiological, and pathological findings. Interferon-alpha-2a (IFNα-2a) was started, and her clinical condition improved. However, 4 months later, she had vision loss with a history of IFNα-2a cessation. The same therapy was administered, and her clinical condition improved. The Erdheim-Chester disease is a rare chronic histiocytic proliferative disease that requires a multidisciplinary approach and can be fatal if left untreated because of multisystemic involvements.
RESUMO Uma mulher de 42 anos apresentou proptose bi-lateral, quemose, dor nas pernas e perda de visão. Com base em achados clínicos, radiológicos e patológicos, foi diag-nosticada doença de Erdheim-Chester com acometimento orbitário, coriorretiniano e multiorgânico. Trata-se de uma rara histiocitose não Langerhans negativa para a mutação BRAF. Foi iniciado tratamento com interferon alfa-2a (IFNα-2a) e o quadro clínico melhorou. No entanto, quatro meses depois, a paciente apresentou perda visual após a cessação do IFNα-2a. A mesma terapia foi administrada novamente e sua condição clínica melhorou novamente. A doença de Erdheim-Chester é uma doença proliferativa histiocítica crônica rara que necessita de uma abordagem multidisciplinar e pode ser fatal se não tratada, devido a envolvimentos multissistêmicos.
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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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La Histiocitosis de Células de Langerhans (HCL) es una enfermedad poco común caracterizada por la proliferación clonal de células dendríticas inmaduras que infiltran de forma local o difusa a distintos sistemas, y que afecta principalmente a niños. Presentamos el caso de un hombre de 38 años con historia de caída de múltiples piezas dentales de larga data, sin asociación a traumatismo, tabaquismo ni a mala higiene dental. Tomografía Computada (TC) de cráneo que mostró múltiples lesiones líticas mandibulares. El resultado de biopsia mandibular e inmunohistoquímica eran compatibles con el hallazgo de HCL. Durante su evolución, cursa con poliuria, polidipsia y nicturia, confirmando mediante estudio hormonal diabetes insípida y panhipopituitarismo. Resonancia Magnética (RM) cerebral muestra neoplasia hipotalámica con compromiso infundibular e imagen sugerente de granuloma hipofisiario. Se decide defocación maxilobucofacial, suplementación hormonal, junto con quimioterapia y radioterapia. El paciente evolucionó favorablemente.
Langerhans-cells Histiocytosis (LCH) is a rare disease characterized by the clonal proliferation of immature dendritic cells that locally or diffusely infiltrate different systems, mainly affecting children. We present the case of a 38-year-old man with a long-standing history of multiple tooth loss without association with trauma, smoking, or poor dental hygiene. Skull computed tomography (CT) showed multiple lytic jaw lesions. Jaw biopsy and immunohistochemical results were compatible with the finding of LCH. The patient evolved with polyuria, polydipsia, and nocturia, confirming the presence of diabetes insipidus and panhypopituitarism through hormonal studies. Magnetic resonance imaging (MRI) of the brain shows a hypothalamic neoplasm with infundibular involvement and an image suggestive of a pituitary granuloma. The treatment consisted of maxillobuccofacial defocusing, hormonal supplementation, chemotherapy, and radiotherapy with favorable evolution.
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Humanos , Masculino , Adulto , Histiocitose de Células de Langerhans/complicações , Histiocitose de Células de Langerhans/patologia , Histiocitose de Células de Langerhans/diagnóstico por imagem , Hipopituitarismo/etiologia , Imageamento por Ressonância Magnética , Tomografia Computadorizada por Raios XRESUMO
INTRODUCTION: Langerhans cell histiocytosis (LCH) and Erdheim-Chester disease (ECD) are rare histiocytic disorders in the L (Langerhans) group diseases. They range from self-limited benign diseases to lethal disseminated forms. METHODS: This retrospective study was conducted in 3 tertiary hospitals in Saudi Arabia and Brazil. Histopathological records were searched for all patients diagnosed with ocular and periocular histiocytic disorders from January 1993 to December 2018. Histopathological slides and medical files were reviewed for data collection and simple analysis of demographics, clinical manifestations, and management. The relevant literature is reviewed. RESULTS: Twenty-two eyes of 18 patients with biopsy-proven histiocytic disorders in the L group were included. Female-to-male ratio was 1.25:1. Average age at presentation was 14 years (range, 1-54). LCH was diagnosed in 14 eyes, while eight eyes had ECD. All LCH cases were unilateral and confined to the bone as cases of eosinophilic granuloma (EG), while patients with ECD were bilateral. Commonest presentations in EG and ECD were eyelid swelling (85.7%) and periocular xanthomas (75%), respectively. Orbit was involved in 100% of EG cases, with bony erosion in 54.5%. Relevant systemic involvement was found in 100% of ECD and 21% of EG cases. Surgical intervention was needed in 16 of the 22 eyes (72.7%). All EG and 25% of patients with ECD required surgical excision. CONCLUSIONS: Histiocytic disorders are a rare group of diseases, including the L group. Relevant systemic associations require specific and selective therapy. A high clinical index and multidisciplinary collaboration are essential for the proper evaluation and management of these patients.
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Doença de Erdheim-Chester , Histiocitose de Células de Langerhans , Humanos , Masculino , Feminino , Lactente , Pré-Escolar , Criança , Adolescente , Adulto Jovem , Adulto , Pessoa de Meia-Idade , Estudos Retrospectivos , Doença de Erdheim-Chester/diagnóstico , Doença de Erdheim-Chester/tratamento farmacológico , Doença de Erdheim-Chester/patologia , Histiocitose de Células de Langerhans/diagnóstico , Histiocitose de Células de Langerhans/tratamento farmacológico , Histiocitose de Células de Langerhans/patologia , Olho , Brasil , Estudos Multicêntricos como AssuntoRESUMO
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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Histiocitose de Células de Langerhans , Criança , Humanos , Pré-Escolar , Lactente , Histiocitose de Células de Langerhans/diagnóstico , Histiocitose de Células de Langerhans/patologia , Osso e Ossos , Boca , Mucosa Bucal , Estudos RetrospectivosRESUMO
A Histiocitose de células de Langerhans (HCL) é uma doença caracterizada pela proliferação anormal dessas células dentríticas em um tecido, que podem acometer uma única estrutura ou órgão ou ainda ocorrer simultaneamente em mais de uma região. Na cavidade oral geralmente a HCL pode se apresentar como uma hipertrofia gengival e ulceração da mucosa, provocando dor, edema, mobilidade, perda dentária, e destruição do tecido ósseo da maxila e da mandíbula. O objetivo desse trabalho foi de reportar a evolução clínica de um caso de HCL com lesões maxilo-mandibulares em uma paciente adulta. A paciente de 27 anos, feoderma, sexo feminino, foi admitida na Clínica de Estomatologia e Cirurgia Bucomaxilofacial do Hospital Metropolitano Odilon Behrens (HMOB), onde foi diagnosticada com HCL. Houveram cinco manifestações da doença desde 2012 até 2022, sendo todas restritas ao tecido ósseo e se estendendo aos tecidos moles mucogengivais, acometendo duas vezes a mandíbula, duas vezes a maxila, e uma vez na região occiptal do crânio, este último caso tratado pela neurologia. A paciente foi submetida ao tratamento cirúrgico e quimioterápico. O tratamento cirúrgico consistiu na exérese das manifestações da HCL em mandíbula e maxila, sendo que na mandíbula E, foi realizada a ressecção segmentar com margem de segurança após fratura patológica da mandíbula. No momento a paciente encontra-se em acompanhamento pelas clínicas de Cirurgia BMF e Médica Oncológica, realizando novo regime quimioterápico, devido a constantes recidivas. A HCL pode apresentar aspectos clínicos e radiográficos comuns a outras patologias que são encontrados com frequência na clínica odontológica, portanto, é de extrema importância que o cirurgião dentista saiba reconhecer as características clínicas e imaginológicas que possam sugerir o diagnóstico de HCL para melhor conduzir o caso afim de se obter o diagnóstico precoce dessa patologia.
Langerhans cell histiocytosis (LCH) is a disease characterized by the abnormal proliferation of these dendritic cells in a tissue, which can affect a single structure or organ or even occur simultaneously in more than one region. In the oral cavity, LCH can usually present as gingival hypertrophy and mucosal ulceration, causing pain, swelling, mobility, tooth loss, and destruction of bone tissue in the maxilla and mandible. The objective of this work was to report the clinical evolution of a case of LCH with maxillomandibular lesions in an adult patient. The patient of 27 years old, female, feoderm, was admitted to the Clinic of Stomatology and Oral and Maxillofacial Surgery at the Metropolitan Hospital Odilon Behrens (MHOB), where she was diagnosed with LCH. There were five manifestations of the disease from 2012 to 2022, all of which were restricted to bone tissue and extended to mucogingival soft tissues, affecting twice the mandible, twice the maxilla, and once in the occipital region of the skull, the latter case treated by neurology. The patient underwent surgical and chemotherapy treatment. The surgical treatment consisted of the excision of the manifestations of LCH in the mandible and maxilla, and in left mandible, segmental resection was performed after a pathological fracture of the mandible. At the moment, the patient is being followed up by the BMF Surgery and Medical Oncology clinics, undergoing a new chemotherapy regimen, due to constant recurrences. LCH can present clinical and radiographic aspects common to other pathologies that are frequently found in the dental practice, therefore, It is extremely important that the dental surgeon knows how to recognize the clinical and imaging characteristics that may suggest the diagnosis of LCH in order to better manage the case in order to obtain an early diagnosis of this pathology.
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Relatos de Casos , Histiocitose de Células de Langerhans , Doenças Raras , Traumatismos MaxilofaciaisRESUMO
Oral melanoacanthoma is an uncommon reactive lesion, characterized by basal and prickle cell keratinocyte proliferation surrounded by pigment-laden dendritic melanocytes. Plasma cell cheilitis (PCC) is an inflammatory disorder of unknown aetiology, microscopically presenting a dense plasma cell infiltrate. Most PCC cases affect the lower lip. Langerhans cell hyperplasia (LCHyp), a non-neoplastic counterpart of the LC proliferations, has been reported in association with chronic inflammatory skin diseases. Here, we present an unusual association of melanoacanthoma, PCC and LCHyp on the lower lip in a 59-old-year male, expanding the clinicopathological spectrum of these uncommon lesions. The dendritic melanocytes were highlighted by Fontana-Masson stain and HMB-45, whereas S100, CD1a and CD207 evidenced numerous LCs. MUM1/IRF4, EMA, and CD138 highlighted sheets of polyclonal plasma cells, with an IgG4+/IgG+ ratio of 24%. FTA-ABS test for syphilis was negative.
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Many aggressive non-endodontic radiolucent lesions show very similar clinical and radiographical features to periapical lesions of endodontic origin. Since the treatments of endodontic and non-endodontic lesions differ markedly, a precise diagnosis is imperative. Thus, the present study aimed at presenting a clinical case on the diagnosis and management of a Langerhans cell histiocytosis (LCH) lesion mimicking a periapical lesion of endodontic origin. A 51-year-old male patient was referred to a private dental office due to slight pain from the region of tooth 36. Although no sign of prosthetic or endodontic failure was noted, radiographical examination revealed a radiolucent image with poorly defined borders associated with the periapical region of the tooth. Apicoectomy and bone curettage were then performed and, given the clinical and laboratory features, the definitive diagnosis of solitary eosinophilic granuloma was made. The surgical treatment was sufficient for the remission of the symptoms, and recurrence was not observed. Given the current case, dentists should be aware of LCH lesions as they may mimic endodontic periapical pathoses, leading to misdiagnosis and therapeutic complications. Moreover, alveolar bone lesions may be the first or only sign of LCH in many cases.
RESUMO
INTRODUCCIÓN El granuloma eosinofílico (GE) es una patología infrecuente, sobre todo en adultos, que puede afectar la columna cervical. A pesar de la vasta literatura, esta enfermedad afecta principalmente a la población infantil, y no hay un consenso sobre el manejo en adultos. Con el objetivo de aportar conocimiento respecto a esta patología poco frecuente, se presenta un caso clínico de GE cervical en un paciente de 16 años, a quien se trató de manera conservadora, con buenos resultados y retorno completo a sus actividades. CASO CLÍNICO Un hombre de 16 años, seleccionado de rugby, consultó por dolor cervical axial persistente y nocturno de 6 semanas de evolución, sin trauma evidente. Al examen, destacó dolor a la compresión axial sin compromiso neurológico asociado. Los exámenes de tomografía computarizada (TC) y resonancia magnética (RM) revelaron lesión lítica en el cuerpo de C3 de características agresivas, de presentación monostótica en tomografía por emisión de positrones-tomografía computada (TEP-TC) compatible con tumor primario vertebral. Se decidió realizar biopsia percutánea bajo TC, para definir el diagnóstico y manejo adecuado, la cual fue compatible con células de Langerhans. Al no presentar clínica ni imagenología de inestabilidad ósea evidente o compromiso neurológico, se manejó con tratamiento conservador, inmovilización cervical, analgesia oral, y seguimiento estrecho. A los cuatro meses de evolución, se presentó con una TC con cambios reparativos del cuerpo vertebral y sin dolor, y logró retomar sus actividad habituales. CONCLUSIONES El diagnóstico de GE es infrecuente a esta edad, y se debe plantear entre diagnósticos diferenciales de lesiones líticas agresivas primarias vertebrales. Es necesario el uso de imágenes, y la biopsia vertebral es fundamental para confirmar el diagnóstico. Su manejo va a depender de la sintomatología, del compromiso de estructuras vecinas, y de la estabilidad de la vértebra afectada. El manejo conservador con seguimiento clínico e imagenológico es una opción viable.
INTRODUCTION Eosinophilic granuloma (EG) is a rare, tumor-like lesion, infrequently affecting the cervical spine, particularly in adults. Although vastly described in literature, this pathology mainly affects children, and there is still no consensus on its treatment in older patients. With the goal of contributing to increase the knowledge regarding this infrequent pathology, we present a case of a C3 eosinophilic granuloma in a 16-year-old patient, who was treated conservatively, with good results, including complete return to his previous activities. CLINICAL CASE a 16-year-old male, elite rugby player, presented with a history of persistent neck pain, mainly at night, with no previous trauma. Upon physical examination, he reported neck pain with axial compression of the head, without neurological impairment. Both computed tomography (CT) and magnetic resonance imaging (MRI) scan revealed an aggressive lytic lesion in the C3 vertebral body, a with monostotic presentation on positron emission tomography-computed tomography (PET-CT) compatible with a primary spine tumor. A CT-guided percutaneous biopsy was obtained to establish the diagnosis and provide the proper management. The results were compatible with Langerhans cells. As he presented no symptoms or imaging findings of evident bone instability, as well as no neurological impairment, the patient was treated conservatively, with a cervical brace, oral pain medication and close followup. A CT obtained after four months of treatment showed reparative changes of the C3 vertebral body; at this point, the patient reported no neck pain, so he was able to return to his previous activities. CONCLUSIONS Although an EG is rare at this age, it should be considered in the differential diagnosis of primary vertebral aggressive lytic lesions. Imaging and a vertebral biopsy are paramount to confirm the diagnosis. The treatment modality depends on the symptoms, the involvement of adjacent structures, and the stability of the affected vertebra. Conservative management including clinical and imaging followup is a viable option.
Assuntos
Humanos , Masculino , Adolescente , Doenças da Coluna Vertebral/diagnóstico por imagem , Granuloma Eosinófilo/diagnóstico por imagem , Doenças da Coluna Vertebral/terapia , Imageamento por Ressonância Magnética/métodos , Tomografia Computadorizada por Raios X/métodos , Granuloma Eosinófilo/terapiaRESUMO
The cutaneous form of Rosai-Dorfman disease is very rare in childhood. The clinical spectrum is highly variable and histopathological study with immunohistochemistry is essential for the diagnosis. We present the case of a 3-year-old boy with the diagnosis of cutaneous Rosai-Dorfman disease and review the pediatric cases published in the literature.
Assuntos
Histiocitose Sinusal , Dermatopatias , Masculino , Humanos , Criança , Pré-Escolar , Histiocitose Sinusal/diagnóstico , Histiocitose Sinusal/patologia , Dermatopatias/diagnóstico , Dermatopatias/patologia , Pele/patologia , Imuno-HistoquímicaRESUMO
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.