Recurrent multisystem Langerhans cell histiocytosis involving the female genitalia: A case report

BACKGROUND Langerhans cell histiocytosis(LCH)is a histiocytic proliferative disease caused by clonal proliferation of Langerhans cells,which is currently defined as an inflam-matory myeloid tumor.It is rare in adults,with an incidence of 1–2 per million,and is highly heterogeneous in clinical presentation,with unpredictable disease progression and outcome.CASE SUMMARY A 52-year-old postmenopausal female patient presented to the gynecology department in July 2023 with bilateral vulvar masses.She was diagnosed with recurrent multisystem LCH.The patient had previously been diagnosed with a single-system and single-focal LCH in October 2021 due to a right maxillofacial mass,which resolved after surgical treatment.A chemotherapy regimen was developed after multidisciplinary consultation.Six cycles of chemotherapy resulted in partial remission,and maintenance chemotherapy is currently being administered.CONCLUSION Recurrent LCH involving the bilateral vulva has been poorly reported.Compre-hensive imaging and pathological evaluation is important for diagnosis.The model of joint multidisciplinary specialist diagnosis and treatment is worthy of clinical application.

A Rare Presentation of Erdheim-Chester Disease Overlaped with Langerhans Histiocytosis

Erdheim-Chester Disease (ECD) is a rare condition and has various differential diagnoses with other forms of histiocytosis, classified as one of non-Langerhans histiocytosis. The diagnosis of this condition remains challenging because its presentation includes non-specific systemic manifestations that can affect different organs caused by deposition of lipids and fibrosis. Most common include bone pain followed by progressive weakness and different lung manifestations. This case is about a rare presentation of ECD with Langerhans Histiocytosis as overlap syndrome, with findings of both diseases in a middle aged woman that presented dyspnea as the first symptom. The patient was treated initially as heart failure and remained without any improvement, being admitted to investigate. After a stricted follow-up, bone and lung involvement were noticed and a skin biopsy unveiled xanthomatized macrophages accompanied by Touton giant cells. This condition remains an important clinical entity and should provide new insights for clinicians dealing with respiratory diseases.

Langerhans cell histiocytosis misdiagnosed as thyroid malignancy: A case report

BACKGROUND The incidence of Langerhans cell histiocytosis(LCH) is low, and involvement of the thyroid is even rarer, which results in high missed diagnosis or misdiagnosis rates.CASE SUMMARY We report a young woman with a thyroid nodule. Thyroid malignancy was suggested by fine needle aspiration, but she was eventually diagnosed with multisystem LCH, thus avoiding thyroidectomy.CONCLUSION The clinical manifestations of LCH involving the thyroid are atypical, and the diagnosis depends on pathology. Surgery is the main method for treating primary thyroid LCH, while chemotherapy is the main treatment method for multisystem LCH.

Adult localized Langerhans cell histiocytosis:A case report

BACKGROUND Langerhans cell histiocytosis(LCH)is a rare clonal proliferative disease of Langerhans cells with unknown pathogenesis.An increasing number of clinicians recognize that LCH has a wide clinical spectrum and a highly varied course.Adults rarely develop LCH.Here,we report a case of adult localized LCH.CASE SUMMARY A 32-year-old woman presented with plaques and ulcers on the vulva and crissum,accompanied by pain that persisted for more than one year.Physical examination revealed a red-infiltrating plaque with ulcerations and exudates in the vulva and crissum.Pathological examination revealed a diffuse infiltration of lymphocytes,eosinophilic granulocytes,and histiocytoid cells in the superficial dermis.Proliferative histiocytoid cells showed mild atypia,partly with kidneyshaped nuclei.Immunohistochemical examination showed that the histiocytoid cells were positive for S100 protein and CD1 and weakly positive for CD68(20%+),with a Ki-67 index of 30%.Laboratory tests did not reveal any other systemic damage.The patient was diagnosed with adult localized LCH and was prescribed oral prednisone(20 mg)once daily.The skin lesions gradually improved and are still being followed-up.CONCLUSION Adult localized LCH is rare and must be differentiated from other common conditions.

Langerhans cell histiocytosis masquerading as acute appendicitis: Case report and review

Langerhans cell histiocytosis(LCH) is a rare syndrome characterized by unifocal,multifocal unisystem,or disseminated/multi-system disease that commonly involves the bone,skin,lymph nodes,pituitary,or sometimes lung(almost exclusively in smokers) causing a variety of symptoms from rashes and bone lesions to diabetes insipidus or pulmonary infiltrates.We present a previously unreported case of gastrointestinal LCH as well as a novel characteristic lesion affecting the colon of a young woman who presented with signs and symptoms mimicking acute on chronic appendicitis.Immunohistochemical analysis of appendectomy specimen and nodular specimens on colonoscopy demonstrated S-100,CD1a,and langerin reactivity.The patient underwent systemic chemotherapy with cytarabine and demonstrated excellent response to therapy.

Solitary Langerhans cell histiocytosis of frontal lobe: a case report and literature review

The brain parenchymal Langerhans cell histiocytosis （LCH） without systemic disease or lytic skull lesions is extremely rare. We report a 23-year-old male presenting with new onset 1 hour seizure with loss of consciousness 20 days prior to admission, and recurrent seizure 2 weeks later. Brain magnetic resonance imaging （MRI） showed an irregularly mass with enhancement involving the right frontal lobe. Microscopically, the lesion was characterized by sheets of Langerhans cells in addition to reactive inflammatory elements. Immunohistochemically, Langerhans cells were positive for Langerin, CDla and S-100 protein. The patient received no chemotherapy or radiotherapy after surgery. After 24 months of follow-up, no recurrence or other systemic lesions were observed. Although there is no standard treatment for solitary cerebral LCH, the prognosis generally appears to be good.

Pulmonary Langerhans cell histiocytosis in adults: A case report

BACKGROUND Langerhans cell histiocytosis (LCH) is a rare disease of unknown aetiology. While it may affect any organ of the body, few cases of solitary lung involvement are published in the literature. Here, we report a rare case of pulmonary LCH (PLCH) in an adult. CASE SUMMARY A 52-year-old male presented to hospital in July 2018 with complaints of progressively worsening cough with sputum, breathlessness, easy fatigability, and loss of appetite since 2016, and a 32-year history of heavy cigarette smoking (average 30 cigarettes/d). Physical examination showed only weakened breathing sounds and wheezing during lung auscultation. Chest computed tomography (CT) showed irregular micronodules and multiple thin-walled small holes. Respiratory function tests showed a slight decrease. Ultrasonic cardiogram showed mild tricuspid regurgitation and no pulmonary hypertension. Fibreoptic bronchoscopy was performed with transbronchial biopsies from the basal segment of right lower lobe. LCH was confirmed by immunohistochemistry. The final diagnosis was PLCH without extra-pulmonary involvement. We suggested smoking cessation treatment. A 3-mo follow-up chest CT scan showed clear absorption of the nodule and thin-walled small holes. The symptoms of cough and phlegm had improved markedly and appetite had improved. There was no obvious dyspnoea. CONCLUSION Imaging manifestations of nodules, cavitating nodules, and thick-walled or thinwalled cysts prompted suspicion of PLCH and lung biopsy for diagnosis.

A NEW LOOK AT LANGERHANS CELL HISTIOCYTOSIS: REVIEW OF A SERIES OF 55 CASES

Objective: Langerhans cell histiocytosis (LCH) has been well described only in children. We analyzed the characteristics, reactivation, and outcome of LCH in a cohort of 55 patients across all ages. Methods: We reviewed the records of all patients with LCH treated at a single institute between Jan. 1974 and May 1998. Results: The 55 patients were 2 to 67 years of age (median, 31 years) at the time of diagnosis, and 85.5% were male. Forty patients (72.7%) had single-system LCH; Fifteen (27.3%) had multisystem disease. The head and neck was the most frequent tumor site (63.6%). LCH was not found in organs at risk of involvement (liver, spleen, bone marrow, and lungs). The frequency of bony invasion (23.6% overall) differed significantly according to age ≤15 years (66.7%) vs. age >15 years (11.6%) (P=0.0005). At a median follow-up of 12 years, no patient died of LCH. The 5, 10-year survival estimates were 100%. The 5, 10-year disease-free survival estimates were 70.9% and 58.4%. The 5-year disease-free survival estimate was 58.3% for age ≤ 15 years vs. 74.4% for age >15 years (P=0.83) and 75% for single-system disease vs. 60% for multisystem disease (P=0.13). LCH was reactivated in 43.6% of patients, with a median of 14 months (range, 2-180 months). Three patients with recurrent disease experienced spontaneous remission. At the time of the most recent follow-up, 23.6% of survivors had active disease. Conclusion: LCH is not found exclusively in children and adolescents. The frequency of bone invasion is inversely related to age. Reactivation is very common regardless of the type of treatment, but the prognosis is generally good.

Atlanto-axial langerhans cell histiocytosis in a child presented as torticollis

Langerhans cell histiocytosis(LCH) is a rare condition mostly seen in children and adolescents. Eosinophilic granuloma(EG) is one of its three clinical entities and is considered as a benign osteolytic lesion. Many reports of patients with spine histiocytosis are well documented in the literature but it is not the case of atlantoaxial localization. We report here a new observation of atlantoaxial LCH in a 4-year-old boy revealed by persistent torticollis. He was successfully treated with systemic chemotherapy and surgery. Inter-body fusion packed by autologous iliac bone was performed with resolution of his symptoms. It is known that conservative treatment is usually sufficient and surgery should be reserved for major neurologic defects in spine EG. In atlantoaxial lesion, surgical treatment should be frequently considered.

Characteristics of multiple nodules in a patient with pulmonary Langerhans cell histiocytosis: A case report

BACKGROUND The common computed tomography findings of pulmonary Langerhans cell histiocytosis (PLCH) are multiple cysts and micronodules predominantly in middle to upper lung lobes.Non-cystic nodules and large nodules are atypical findings of PLCH.CASE SUMMARY The patient was a 48-year-old Japanese man with a smoking history (20 cigarettes/d,28 years) and no symptoms.Multiple nodules existed in all lung lobes,predominantly in the right lower lobe.Some nodules seemed to be distributed randomly,and others were adjacent to bronchus.Most nodules were solid;some small ones were cystic.The largest nodule was 22 mm in diameter.Although metastatic lung tumors were suspected,thoracoscopic lung biopsy led to the diagnosis of PLCH.At 6 months after he quit smoking,all nodules had almost disappeared.We investigated the characteristics of nodules at diagnosis in detail.Of 349 nodules in total,116 were in upper and 199 were in lower lobes.Ninety-six (27.5%) were cystic;the remaining 253 (72.5%) were non-cystic.The prevalence of cystic nodules was higher in upper lobes than in lower lobes (right upper 37.5% vs lower 18.2%,P = 0.0068;left upper 48.1% vs lower 24.4%,P = 0.0078).The average size (dia.) of cystic nodules was smaller than that of noncystic nodules (5.03 mm vs 7.40 mm,respectively,P < 0.0001).CONCLUSION Although multiple non-cystic nodules including large nodules (over 20 mm) are atypical,PLCH should be included in differential diagnoses.The presence of small cystic nodules predominantly in upper lobes and asymptomatic situation are also important for differential diagnoses to distinguish from metastatic cancers.

Etoposide-based Combination Chemotherapy in Malignant Histiocytosis

We investigated the responses of patients with malignant histiocytosis (MH) to the treatment of epotoside-based regimen.Of 11 evaluable cases,9(81. 8%)achieved complete remission and 1 partial remission.7 complete remission cases (77. 7%) received only one therapeutic course.The side effects were mild and welltolerated. We conclude that etoposide-containing regimen is highly effective and can be used as first-line treatment for MH and is worthy of further study.

Langerhans cell histiocytosis involving only the thymus in an adult: A case report

BACKGROUND Langerhans cell histiocytosis(LCH)is a rare disease of unknown etiology.LCH involving the thymus is mainly seen in pediatric patients and is extremely rare in adults.In this report,we describe a rare case of LCH originating from the thymus in an adult.CASE SUMMARY A 56-year-old man was admitted in April 2022 with complaints of intermittent dizziness since 2020,which had worsened in the previous 10 d.The physical chest examination was negative,and there was a history of hypertension for>2 years.Chest computed tomography showed a nodular soft tissue density shadow in the anterior mediastinum measuring approximately 13 mm×9 mm×8 mm.Postoperative pathological findings confirmed the diagnosis of LCH.CONCLUSION It is challenging to differentiate LCH involving the thymus from thymoma in imaging features.Pathological biopsy remains the gold standard when an anterior mediastinal occupying lesion is found.

Multisystem involvement Langerhans cell histiocytosis in an adult:A case report

BACKGROUND Langerhans cell histiocytosis(LCH)is a rare condition wherein Langerhans cells proliferate abnormally,adversely impacting organs including lymph nodes,bones,skin,lungs,and pituitary gland.The LCH disease course varies widely among patients from a self-limiting condition to one that progresses rapidly and culminates in death.It is uncommon for multisystem LCH to be observed in adults.Herein we describe a woman suffering from multi-system LCH involvement.CASE SUMMARY A 37-year old Chinese woman was admitted to the hospital in June 2019 suffering from dyspnea that had progressed over the course of 5 years.Her medical history included:central diabetes insipidus(DI)that had been treated via radiotherapy,desmopressin acetate,and bromocriptine;bilateral pneumothorax with two surgeries having been performed to remove bullae;and autoimmune hepatitis that had been unsuccessfully treated using a combination of methylprednisolone and mycophenolate mofetil.A chest computed tomography(CT)scan revealed the presence of multiple pulmonary cysts of varying sizes.We re-analyzed right pulmonary bullae samples that had been removed in 2014,performed a systematic 18 F-FDG PET/CT analysis,and convened a multidisciplinary medical team to diagnose and treat this patient.As a result,we were able to eventually diagnose this patient with LCH that was not associated with BRAF-V600 E mutations.CONCLUSION We hope to emphasize the importance of systemic evaluation and of cooperation between multidisciplinary physicians with the goal of improving awareness and detection of this orphan disease.

Malignant histiocytosis associated with mediastinal germ cell tumor:A case report

BACKGROUND Germ cell tumors(GCTs)account for 2%of human malignancies but are the most common malignant tumors among males aged 15-35.Since 1983,an association between mediastinal GCT(MGCT)and hematologic malignancies has been recognized.CASE SUMMARY We report a case in which malignant histiocytosis was associated with mediastinal GCTs.The clinical data of a male patient with MGCT admitted to Beijing Children's Hospital were collected retrospectively.The patient was first diagnosed according to imaging and pathological features as having MGCT,and was treated with surgery and chemotherapy.One year after stopping chemotherapy,imaging showed metastases in the right supraclavicular,mediastinum,hilar region and retroperitoneal lymph node,right pleura,right lung,and right para-cardiac margin.Pathological diagnosis of the liver nodular and hilar lymph nodes included systemic juvenile xanthogranuloma and Rosai-Dorfman lesions with malignant transformation(i.e.,morphological characteristics and immunophenotype of histiocytic sarcoma).Following diagnosis,the patient accepted chemotherapy with vindesine,cytarabine and dexamethasone.Positron emission tomography–computed tomography showed partial remission.The patient was followed-up for 10 mo after the diagnosis of malignant histiocytosis,and no sign of progression or relapse was observed.CONCLUSION Physicians should recognize the possibility of hematologic malignancies being associated with MGCT.Suitable sites should be selected for pathological examination.

Langerhans' Cell Histiocytosis (Histiocytosis X) of the Temporal Bone

Objectives Langerhans’ Cell histiocytosis (LCH) is a rare disease, which remains poorly understood and whose cellular origin remains unknown. To increase understanding of temporal bone LCH, it is necessary to study recent advances in the diagnosis and treatment of this disease. Methods The long term(5 to 30 years) results of 21 temporal bone LCH cases treated between 1973 and 2003 were reviewed. Surgery, radiotherapy, pharmacologic therapy or a combination of these treatments were employed in these cases. Results Eighteen patients were cured(18/21, 85%). Six patients developed residual diabetes insipidus (DI) and dwarfism (28%). Three patients died(14%). Conclusions The Alessi classification system for LCH based on the extent of disease accurately predicts prognosis and is a useful guide in selecting treatment methodologies. X-ray, computed tomography and magnetic resonance imaging have proved useful in defining the extent of osseous and soft tissue diseases. Diagnosis of LCH is based on clinical presentations, radiographic findings and histopathological results. Surgery and radiotherapy are the main treatment modalities. Pharmacologic therapy should be used in patients with aggressive, disseminate, and refractory lesions. LCH has a predilection for children and prognosis depends on age and extent of vital organ involvement.

MALIGNANT HISTIOCYTOSIS: A STUDY ON CLINICOPATHOLOGICAL FEATURES AND CELL ORIGIN

Thirty- one autopsy cases previously diagnosed as malignant histiocytosis (MH) were studied by means of immunohistochemical staining. Antibodies detecting the formalin resistant epitopes on T- cells, B- cells and those of histiocyte/monocyte origin were used. It was shown that the malignant histiocytes reacted only to the cell markers derived from histlocyte/monocyte. and only a part of lymphocytes showed positive reaction to the T and B cell markers. It is suggested that the histiocyte/monocyte lineage is the possible origin of the malignant proliferating cells in MH. The clinicopathological features and the differentiation of MH from familial erythrophagocytic lymphohistiocytosis, virus-associated hemophagocytic syndrome and malignant lymphoma are described. The pathogenesis. the causes of death and the points for attention in the treatment of MH are also discussed.

Unusual Acute Onset of Symptomatic Langerhans Cell Histiocytosis of the Skull: Case Report and Literature Review

Introduction: Langerhans cell histiocytosis (LCH) is a group of idiopathic disorders characterized by the proliferation of specialized bone marrow-derived Langerhans cells (LCs) and mature eosinophils, resulting in solitary or few, indolent and chronic, lesions of bone or other organs called eosinophilic granulomas. Calvarial LCH is quite rare and an underappreciated differential etiology of skull lesions. We present a most unusual case of a young child with hyperacutely symptomatic langerhans histiocytosis of the skull. Method: A 7-year-old male presented with a history of increasing (progressive) frontal headaches of 8 days duration, unaccompanied by associated nausea, vomiting, or diplopia. His only additional complaint was a hard bump on his forehead. MRI and CT done in the ER identified a right fronto-parietal lesion with associated skull erosion. Nuclear medicine and SPECT studies confirmed an erosive skull lesion without significant metabolic activity. A right frontal craniectomy and excision was performed. Results: A soft, rubbery well-circumcised mass coming from the diploic layer of the skull with involvement of bone was identified. The mass had eroded both the outer and inner table of the skull, and the involved area of the right frontal bone was resected. Intra-operative histo-pathologic analysis of the lesion revealed Langerhans cell histiocytosis without involvement of the dura. The patient experienced no neurological worsening as a result of the resection. He was discharged home in stable condition. Conclusion: LCH lesions of the skull are common findings, however, this focal hyperacute symptomatic presentation is most rare and should not deter us from anticipating an erosive bony tumor and planning timely surgical management.

Current perspectives on the role of liver transplantation for Langerhans cell histiocytosis:A narrative review

Langerhans cell histiocytosis(LCH)is a malignant disease of the histiocytes involving various organ systems.The spectrum of liver involvement in LCH ranges from mild transaminitis to end-stage liver disease.The hallmark of hepatic LCH is secondary sclerosing cholangitis,which manifests due to a progressive destruction of the biliary tree by malignant histiocytes.Chemotherapy remains the mainstay of treatment for active LCH.Early recognition,diagnosis and a systematic approach to the management of LCH can ameliorate the disease process.Nonetheless,the liver involvement in these patients may progress despite the LCH being in remission.Liver transplantation(LT)remains central in the management of such patients.Various facets of the management of LCH,especially those with liver involvement remain unclear.Furthermore,aspects of LT in LCH with regards to the indication,timing and post-LT management,including immunosuppression and adjuvant therapy,remain undefined.This review summarises the current evidence and discusses the practical aspects of the role of LT in the management of LCH.

Adult Langerhans Cell Histiocytosis: A Rare Etiology of Spinal Cord Compression

Langerhans cell histiocytosis is a rare disease involving clonal proliferation of langerhans cells seen in children and young adults. Clinical presentation is variable, ranging from a single location in the bone to severe multivisceral involvement. Moreover, spinal involvement causing myelopathy is even rare and unusual. We report a rare case of adult Langerhans cell histiocytosis in the dorsal spine causing a spinal cord compression associated with a pulmonary process treated by surgery, radiotherapy and systemic therapy with good evolution.

Management of adult Langerhans cell histiocytosis based on the characteristic clinical features

To find out the most appropriate management,clinical features of 18 cases of adult multisystem langerhans cell histiocytosis(LCH) have been analyzed. The patients comprising of 9 males and 9 females were median age of 36 years,ranging from 18-53 years at diagnosis. Regarding the initial symptoms,7 patients(2 males and 5 females) showed central diabetes insipidus(CDI) and other endocrine symptoms with thickened pituitary stalk or a mass at the hypothalamic region. Additional 2 patients initiated the disease with CDI with no immediate diagnosis. In the remaining patients,the diseasebegun with single(n = 3) or multiple(n = 1) spinal bone lesion(s) in 4 patients(all males),with multiple bone lesions in 3 patients(1 male and 2 females),with single skull lesion in one female patient and with ambiguous symptoms including hypothyroidism in the remaining one male patient. We also recognized the correlation between pregnancy/childbirth and LCH in 4 patients. In terms of treatment,9 patients received systemic immuno-chemotherapy alone,of which the majority received vinblastine-based chemotherapy while 4 received 2-chlorodeoxyadenosine. Five had a combination of immuno-chemotherapy with surgical resection or radiotherapy,2 had immunotherapy alone,2 had surgical resection followed by observation alone to date. Three patients received hematopoietic stem cell transplantation after extensive chemotherapy. In terms of outcome,15 patients are alive(9 with active disease,6 without active disease),with a median of 66 mo(range 17-166 mo),two died of disease while the remaining 1 lost to follow-up. Based on these results,we think that early diagnosis and rapid introduction of appropriate treatment are essential,in order to overcome the problems relevant to adult LCH.