Langerhans cell histiocytosis oral lesions in pediatric patients / Lesiones bucales de Histiocitosis de Células de Langerhans en pacientes pediátricos

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.

Histiocitosis de células mixtas: Reporte de un caso

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.

Histiocitosis de células de Langerhans: reporte de caso y revisión de la literatura / Langerhans cell histiocytosis: Case report and literature review

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.

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.

Multisystemic Pediatric Langerhans cell histiocytosis: a comprehensive clinico-pathological and BRAF V600E mutation study at autopsy

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.

Clinicopathological features of T-lymphoblastic lymphoma with Langerhans cell histiocytosis in the same lymph node / 中华病理学杂志

To investigate the clinicopathological features, immunophenotypes, genetics and prognosis of T-lymphocyte lymphoma/myeloid sarcoma combined with Langerhans cell histiocytyosis (coexistence of T-LBL/MS and LCH). Clinical and pathological data of the 6 patients with coexistence of T-LBL/MS and LCH were analyzed, who were diagnosed at the Foshan Hospital of Sun Yat-sen University and the Friendship Hospital of Capital Medical University, from December 2013 to April 2019. The hematoxylin and eosin stain, immunohitochemistry (EnVision) and in situ hybridization were used. Related literatures were reviewed. Four patients were T-LBL combined with LCH, 1 was T-LBL/MS combined with LCH, and 1 was MS combined with LCH. There were 2 male and 4 female patients, with age ranged from 5 to 77 years old (median, 59 years old). Three patients represented with only multiple lymph node swelling. The other 3 displayed both multiple lymph node swelling, and skin/liver or spleen lesions. Lymph node structure was destroyed in 5 cases, while 3 cases had several residual atrophic follicles. Histologically, there were two types of tumor cells: one type of the abnormal lymphoid-cells exhibited small to medium-sized blast cells, typically showing a nested distribution, and these cells were mainly identified in residual follicles and paracortical areas; the other type of histiocytoid cells had a large cell size and abundant pale or dichromatic cytoplasm. Their nuclei were irregularly shaped, showing folded appearance and nuclear grooves. These cells were mainly present in marginal sinus, medullary sinus and interstitial area between follicles. Eosinophil infiltration in the background was not evident in any of the cases. The lymphoid-cells of medium size showed TdT+/CD99+/CD7+, with variable expression of CD34/MPO/CD2/CD3. Ki-67 index was mostly 30%-50%. However, the histiocytoid cells showed phenotype of CD1a+/S-100+/Langerin+/-, while CD163/CD68 were positive in some degree. These cells did not express any T or B cell markers. The Ki-67 index mostly ranged between 10%-20%. None of the cases had Epstin-Barr viral infection. Among the 6 patients, 4 patients were followed up (6-63 months, median time, 18.5 months), of whom 1 patient died of the disease and 3 patients were alive at the end of follow-up. T-LBL/MS combined with LCH is a rare mixed type of immature hematopoietic disease, and mainly occurs in lymph node and skin. The clinical course is overall aggressive. Therefore, it is helpful to recognize and identify the two pathologic components in the same tissue for accurate diagnosis and proper treatment.

Clinicopathological features of T-lymphoblastic lymphoma with Langerhans cell histiocytosis in the same lymph node / 中华病理学杂志

Objective@#To investigate the clinicopathological features, immunophenotypes, genetics and prognosis of T-lymphocyte lymphoma/myeloid sarcoma combined with Langerhans cell histiocytyosis (coexistence of T-LBL/MS and LCH).@*Methods@#Clinical and pathological data of the 6 patients with coexistence of T-LBL/MS and LCH were analyzed, who were diagnosed at the Foshan Hospital of Sun Yat-sen University and the Friendship Hospital of Capital Medical University, from December 2013 to April 2019. The hematoxylin and eosin stain, immunohitochemistry (EnVision) and in situ hybridization were used. Related literatures were reviewed.@*Results@#Four patients were T-LBL combined with LCH, 1 was T-LBL/MS combined with LCH, and 1 was MS combined with LCH. There were 2 male and 4 female patients, with age ranged from 5 to 77 years old (median, 59 years old). Three patients represented with only multiple lymph node swelling. The other 3 displayed both multiple lymph node swelling, and skin/liver or spleen lesions. Lymph node structure was destroyed in 5 cases, while 3 cases had several residual atrophic follicles. Histologically, there were two types of tumor cells: one type of the abnormal lymphoid-cells exhibited small to medium-sized blast cells, typically showing a nested distribution, and these cells were mainly identified in residual follicles and paracortical areas; the other type of histiocytoid cells had a large cell size and abundant pale or dichromatic cytoplasm. Their nuclei were irregularly shaped, showing folded appearance and nuclear grooves. These cells were mainly present in marginal sinus, medullary sinus and interstitial area between follicles. Eosinophil infiltration in the background was not evident in any of the cases. The lymphoid-cells of medium size showed TdT+/CD99+/CD7+, with variable expression of CD34/MPO/CD2/CD3. Ki-67 index was mostly 30%-50%. However, the histiocytoid cells showed phenotype of CD1a+/S-100+/Langerin+/-, while CD163/CD68 were positive in some degree. These cells did not express any T or B cell markers. The Ki-67 index mostly ranged between 10%-20%. None of the cases had Epstin-Barr viral infection. Among the 6 patients, 4 patients were followed up (6-63 months, median time, 18.5 months), of whom 1 patient died of the disease and 3 patients were alive at the end of follow-up.@*Conclusions@#T-LBL/MS combined with LCH is a rare mixed type of immature hematopoietic disease, and mainly occurs in lymph node and skin. The clinical course is overall aggressive. Therefore, it is helpful to recognize and identify the two pathologic components in the same tissue for accurate diagnosis and proper treatment.

Imaging manifestation of adult bones Langerhans cell histiocytosis / 中国医师进修杂志

Objective@#To investigate the imaging features of adult bones Langerhans cell histiocytosis (LCH).@*Methods@#The DR, CT, and MRI findings of 25 adults patients with LCH from January 2008 to June 2019 in Yueqing Sixth People′s Hospital of Zhejiang Province (3 cases), Yueqing Third People′s Hospital of Zhejiang Province (7 cases) and Wenzhou People′s Hospital of Zhejiang Province (15 cases) were retrospectively analyzed.@*Results@#Among the 25 patients, the lesions located in the skull in 5 cases, in the spine in 5 cases, in the long bones in 10 cases, in the other flat bones in 3 cases, and in multiple bones in 2 cases. DR features (17 cases) showed: cystic destruction in 11 cases (6 cases with dilated changes), osteolytic damage in 6 cases; peripheral bone cortex thickening in 5 cases, bone lesions with less smooth inner edge in 4 cases, soft tissue mass around the lesion in 12 cases; 'hole set cave sign' in 2 cases, 'flat vertebra' in 2 cases, and 'button-like dead bone' in 1 case. CT features (15 cases) showed: cystic destruction in 9 cases (5 cases with dilated changes), osteolytic damage in 6 cases; 'hole set cave sign' in 2 cases, 'flat vertebra' in 2 cases, and 'button-like dead bone' in 1 case. MRI features (14 cases) showed: cystic destruction in 9 cases (5 cases with dilated changes), osteolytic damage in 5 cases; in the bone destruction area, 8 cases had low T1WI signal and high T2WI signal, 4 cases had equal T1WI signal and higher mixed T2WI signal, 2 cases had slightly higher T1WI signal and higher mixed T2WI signal; STIR lipoprotein sequence showed high signal in 11 cases, and isointense signal in 3 cases; DWI showed high signal.@*Conclusions@#The imaging performance of adults LCH has certain characteristics, and the diagnostic accuracy can be improved according to the imaging performance and the clinic.

Imaging manifestation of adult bones Langerhans cell histiocytosis / 中国医师进修杂志

Objective To investigate the imaging features of adult bones Langerhans cell histiocytosis (LCH).Methods The DR,CT,and MRI findings of 25 adults patients with LCH from January 2008 to June 2019 in Yueqing Sixth People's Hospital of Zhejiang Province (3 cases),Yueqing Third People's Hospital of Zhejiang Province (7 cases) and Wenzhou People's Hospital of Zhejiang Province (15 cases) were retrospectively analyzed.Results Among the 25 patients,the lesions located in the skull in 5 cases,in the spine in 5 cases,in the long bones in 10 cases,in the other flat bones in 3 cases,and in multiple bones in 2 cases.DR features (17 cases) showed:cystic destruction in 11 cases (6 cases with dilated changes),osteolytic damage in 6 cases;peripheral bone cortex thickening in 5 cases,bone lesions with less smooth inner edge in 4 cases,soft tissue mass around the lesion in 12 cases;‘hole set cave sign’ in 2 cases,‘flat vertebra’ in 2 cases,and ‘button-like dead bone’ in 1 case.CT features (15 cases) showed:cystic destruction in 9 cases (5 cases with dilated changes),osteolytic damage in 6 cases;‘hole set cave sign’ in 2 cases,‘flat vertebra’ in 2 cases,and ‘button-like dead bone’ in 1 case.MRI features (14 cases) showed:cystic destruction in 9 cases (5 cases with dilated changes),osteolytic damage in 5 cases;in the bone destruction area,8 cases had low T1WI signal and high T2WI signal,4 cases had equal T1WI signal and higher mixed T2WI signal,2 cases had slightly higher T1WI signal and higher mixed T2WI signal;STIR lipoprotein sequence showed high signal in 11 cases,and isointense signal in 3 cases;DWI showed high signal.Conclusions The imaging performance of adults LCH has certain characteristics,and the diagnostic accuracy can be improved according to the imaging performance and the clinic.

Agminated atypical melanocytic nevus associated with Langerhans cell histiocytosis

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.

Clinicopathological and molecular features of Erdheim-Chester disease accompanied with Langerhans cell histiocytosis / 中华病理学杂志

Objective@#To investigate the clinicpathological and molecular features of Erdheim-Chester disease (ECD) as well langerhans cell histiocytosis (LCH).@*Methods@#The clinical, histopathological, molecular findings, immunophenotype, treatment and prognosis in 4 cases of ECD combined LCH were evaluated from February 2015 to September 2018 with review of the relevant literature.@*Results@#2 cases were male, and 2 were female, aged from 7-55 years. Microscopically, there were two different areas, in the first area, the lesions were composed of foamy histiocytes, spindle-shaped fibroblasts, scattered multinucleated giant cells. Lymphocytes, plasma cells, and giant cells were also found. In the other, the lesions were composed of histiocytes with obvious nuclear groove, associated with a variable number of eosinophils, lymphocytes and plasma cells. Immunephenotype, In the second area, histiocytes were positive for CD1a (4/4), S-100 (4/4),CD207/Langerin (4/4), cyclin D1(4/4), and in the two different area, the histiocytes were positive for CD68, CD163, Braf. Ki-67 positive index 1%-10% BRAF V600E gene mutation was detected in three cases.@*Conclusion@#ECD combined LCH was a very rare histiocytosis tumor and its correct diagnosis relies on histopathologic features, immunohistochemical staining, and BRAF V600E gene detection.

Langerhans cell histiocytosis in children: clinicopathological and ultrastructural analyses of 345 cases / 中华病理学杂志

Objective@#To investigate the clinicopathological and ultrastructural characteristics of Langerhans cell histiocytosis (LCH) in children.@*Methods@#A total of 345 cases of LCH from the Department of Pathology, Beijing Children Hospital from January 2012 to March 2016 were investigated by hematoxylin-eosin stain, EnVision immunohistochemistry and transmission electron microscopy.@*Results@#The rate of primary clinical diagnosis of LCH in children was 46.0%(210/457). Among 345 patients of LCH, 213 were male and 132 were female, the male to female ratio was 1.6∶1.0, and the median age was 21 months (range from 2 days after birth to 13.3 years). There were total 597 lesions, including bony lesions (258, 43.2%), skin lesions (206, 34.5%) , followed by lymph node (16, 2.7%), lung (28, 4.7%), liver (25, 4.2%) and head-neck (50, 8.4%). Single organ system LCH (SS-LCH) was seen in 295 cases (85.5%) and 50 cases (14.5%) presented with multiple organ system involvement LCH (MS-LCH). There was no significant difference in age and gender between SS-LCH and MS-LCH groups. Regarding sites, more lesions were seen in bone and skin in SS-LCH group, in contrast lymph node, lung, liver and head-neck involvements were often seen in MS-LCH group. Immunohistochemically, the expression of CD1a and Langerin was seen in 99.7% (341/342) and 98.8% (338/342) of the cases respectively. The diagnostic rates by light and transmission electron microscopy were 98.8% (341/345) and 97.4% (112/115) respectively (P>0.05).@*Conclusions@#LCH of children occurs predominantly in SS-LCH pattern, frequently involving bone, skin, lymph node, lung and liver and other sites with unique histopathological, immunophenotypical and ultrastructural features. Accurate diagnosis relies on the morphology, immunophenotype and ultrastructural features. Further refinement of specimen processing may improve the accuracy of pathological diagnosis.

Imaging manifestations of liver Langerhans cell histiocytosis / 中国医学影像技术

Objective: To investigate CT and MRI manifestations of Langerhans cell histiocytosis (LCH) involving the liver in children. Methods: CT and MRI findings of 22 children with LCH involving the liver were retrospectively analyzed. Results: Hepatomegaly was found in all 22 children, while widening of Glisson sheath and track sign and halo sign of portal area were observed in 20 cases. CT showed low density in 16 cases, 5 cases showed mild to moderate enhancement, and MRI showed high signal intensity in 4 cases and 2 cases showed mild enhancement of T2WI. Fourteen children presented multiple nodules in the liver, with diameters of 0.51-2.35 cm, distributed along the portal vein in 10 cases and diffusely distributed in 4 cases. Among them, CT showed low densities in 11 cases and 5 cases showed mild to moderate enhancement, while T1WI showed low signal intensities and T2WI showed high signal intensities in 3 cases and 2 cases showed mild enhancement. Intrahepatic bile duct alternative stenoses/dilatation were noticed in 8 cases. Conclusion: CT and MRI findings of LCH involving the liver in children have certain characteristics.

Abdominal ultrasonographic manifestations of Langerhans cells histiocytosis in children / 中国医学影像技术

Objective To observe the abdominal ultrasonic manifestations of children with Langerhans cells histiocytosis (LCH).Methods Imaging features of histopathologically proved LCH in 28 children were retrospectively analyzed.Results Among 28 eases,multi system involvement was found in 25 cases,while only liver and bile duct involvement were detected in 3 cases.Different degrees of enlarged liver,inhomogeneous echo of liver parenchyma,scattered or diffuse hypoechoic regions were found in all 28 cases.Uneven thickening and echo enhancement of the bile duct wall,as well as local expansion or stricture of bile duct cavity were found in 13 cases.Splenomegaly was found in 17 cases,swelling of the pancreas was found in 5 cases,varying degrees of ascites were found in 13 cases,and hepatic hilar lymphadenectasis were found in 14 cases.Conclusion There are specific ultrasonographic manifestations of LCH in children,which may be helpful to improving diagnostic accuracy of LCH.

Langerhans cell sarcoma: a clinicopathologic analysis of four cases / 中华病理学杂志

Objective@#To investigate the clinicopathological features, differential diagnosis, and genetic alteration of Langerhans cell sarcoma (LCS).@*Methods@#Four cases of LCS were collected from Fujian Provincial Hospital and Fuzhou General Hospital of Nanjing Military Command of PLA from July 2013 to January 2017. Clinicopathological features and immunophenotype were retrospectively reviewed in four LCS cases combined with genetic mutation analysis of BRAF and ALK.@*Results@#Four cases included 2 women and 2 men with ages from 42 to 79 years (median=59.3 years). The size of the tumors ranged from 2.5-7.8 cm. Histologically, at the low power field, the tumors consisted of highly cellular proliferation in fascicules, whirlpool and diffuse sheets arrangement. The tumor cells were kidney-or horseshoe-shaped to round epithelioid cells or enlarged spindle cells. The neoplastic cells showed cytological atypia, hyperchromatic nuclei with prominent 1 to 2 nucleoli. Multinucleated giant cells were also found. Mitotic activity was approximately (50-70) mitoses/10 HPF. Immunohistochemically, the tumor cells were positive for S-100 protein (4/4), SOX10(3/4), Langerin/CD207(4/4), CD1a(3/4), CD68(3/4), CD163(3/4), and INI-1(4/4). Ki-67 index was 30%-80%. Gene mutation analysis showed that one case had BRAF V600E mutation but none had ALK gene alteration.@*Conclusions@#LCS is a rare tumor with highly malignant potential and distinct morphologic features.The primary treatment for LCS is completely surgical excision and chemotherapy. The prognosis is generally poor.

Neonatal Langerhans cell histiocytosis: a case report / 中华围产医学杂志

We reported a case of neonatal Langerhans cell histiocytosis (LCH) with his clinical manifestations, examinations, diagnosis and treatment. This infant was hospitalized due to the rash and poor response. He was diagnosed as LCH after admission by imaging, skin biopsy and immunohistochemistry. The infant died because his parents refused all possible treatments. At the moment, no effective treatment is available for LCH patients, while the main managements are infection control and necessary supportive care. Pulmonary infections often contribute to the death of LCH patient and can aggravate the situation by stimulating histiocytic hyperplasia.

Langerhans cell histiocytosis of the scapula - diagnosis & treatment options / Histiocitose de células de langerhans da escápula - diagnóstico e opções de tratamento / Histiocitosis de células de langerhans de la escápula - diagnóstico y opciones de tratamiento

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.

Langerhans' cell histiocytosis with neurological injuries diagnosed from a single cutaneous lesion

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.

HISTIOCITOSE DE CÉLULAS DE LANGERHANS AUTOLIMITADA E DE INÍCIO TARDIO: RELATO DE UMA ENTIDADE RARÍSSIMA / LATE-ONSET SELF-HEALING LANGERHANS CELL HISTIOCYTOSIS: REPORT OF A VERY RARE ENTITY

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.

Clinicopathological analysis of 21 patients with adult langerhans cell histiocytosis / 白血病·淋巴瘤

Objective To observe the clinical characteristics, treatment and prognosis of adult patients with langerhans cell histiocytosis (LCH). Methods The clinical data of 21 adult patients with LCH≥18 years old from March 2010 to March 2017 in the Second Affiliated Hospital of Southeast University and the First Affiliated Hospital with Nanjing Medical University were retrospectively analyzed, and the clinical manifestations, laboratory tests, treatments and prognosis were observed. Results A total of 21 patients included 14 male cases and 7 female cases. The median age was 43 years old (22-62 years old). There were 4 patients with single system and single lesion, 5 patients with single system and multi-lesion (Hand-Schuller-Christian) and 12 patients with multisystem and multi-lesion (Letter-Siwe disease). Risk-organ involvement was observed in 7 cases (3 lung cases, 2 bone marrow cases, 1 liver case and 1 spleen case ). The median overall survival time of all patients with LCH was 36 months (1-89 months), including 9 patients with single-system disease and 5 patients with multisystem disease without recurrence and unstable condition (survival time: 4-89 mouths). Among 7 patients with multisystem disease with high-risk organ involvement, 3 survived with no recurrence and 4 died from disease progression. Conclusions The incidence of adult LCH featured by the involvement of more multisystem and multi-lesion in clinic is low, and male cases are in the majority. Patients with multisystem disease and risk organ involvement have poor response to current therapy, and new treatments need to be explored.