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Background: Histiocytes with coffee bean like nucleus are the diagnostic hallmark of Langerhans cell histiocytosis (LCH) supported with immunohistochemical (IHC) demonstration of fascin, CD1a and S-100. We report a case of Letterer-Siwe disease in a 40year male diagnosed on cytology and IHC on cytosmears along with cytomorphology in Liquid based cytology (LBC) smears. Materials and Methods: Forty year male presented with complains of low grade fever and reduced appetite from two years with a cervical swelling and discomfort from five months. Results: Fine needle aspiration(FNA) from cervical lymph node showed sheets of histiocytes in background of mixed inflammatory cells. LBC smears highlighted fine chromatin, delicate nuclear outline with coffee bean like morphology. On IHC tumor cells were positive for S-100 and CD1a. CT thorax revealed consolidation in left lower lung, bone lesions were found on skeletal survey. Conclusion: Hence diagnosis of Letterer-Siwe disease was given. Patient responded well to systemic chemotherapy. Keywords: Langerhans cell histiocytosis (LCH), Fine needle aspiration (FNA), Immunohistochemistry (IHC), Liquid based cytology (LBC) smears.

1. Xavier Sanchez-Flores, MD* 2. Oscar W. Nevares-Pomales, MD* 3. Rafael F. Martin-Garcia, MD* 1. *Department of Dermatology, University of Puerto Rico School of Medicine, San Juan, Puerto Rico A 4-week-old girl presents to the dermatology clinic with a nodular lesion over her right ala nasi that has been present since birth. She was born via spontaneous vaginal delivery at 39 weeks’ gestation as the first child to a healthy 29-year-old woman after an uncomplicated pregnancy and delivery. The mother reports no history of prenatal infection or complication. Neonatal growth parameters such as weight, length, and head circumference are within the normal ranges. Apgar scores were normal. Results of prenatal screening laboratory tests for group B streptococcus, hepatitis B, rubella antibodies, urinalysis, syphilis, complete blood cell count, and human immunodeficiency virus were reassuring. The family and social histories are noncontributory. The patient was born with a small, nonblanchable erythematous papule that rapidly grew to a yellowish-brown nodule with central crust (Fig 1). The lesion did not collapse on compression. There is no liver or spleen enlargement, fever, icterus, involvement of mucous membranes or superficial palpable lymphadenopathy. No other significant skin manifestations are observed. Results of diagnostic tests, including complete blood cell count, complete metabolic panel, coagulation profile, chest radiograph, whole-body scintigraphy, and newborn screening, are normal. The hematology-oncology service is consulted, but a bone marrow biopsy reveals no abnormalities or concerning findings. S-100 and CD1a stains are negative in the bone marrow sample. A skin biopsy reveals the diagnosis. Figure 1. Erythematous, ulcerated nodule with mild crusting. The skin biopsy demonstrates an ulcerated epidermis with a diffuse and lichenoid mixed dermal infiltrate mostly composed of large cells with kidney-shaped reniform nuclei along with scattered lymphocytes and few eosinophils. Immunohistochemical staining with CD1a and S-100 shows strong reactivity in …

Descriptive, retrospective. Scientific level of evidence IV. The aim of this study was to evaluate a consecutive case series of 50 pediatric patients with LCH of the spine. Langerhans cell histiocytosis (LCH) is a rare disease characterized by abnormal proliferation of Langerhans cells in different organs. Incidence in children range from 2 to 10 cases per million. In the current literature, few series evaluate LCH in the pediatric spine. A consecutive case series of 50 pediatric patients with LCH of the spine treated at our hospital between 1984 and 2016, with a follow-up of at least 2 years, was analyzed. Sex, age, clinical and radiographic presentation, number of lesions, treatment, complications, and outcome were assessed. Fifty patients, 26 boys and 24 girls, were evaluated. Mean age was 5 years and 2 months (6 months to 13 years and 3 months). 27 patients had a single spinal lesion while 23 had 2 or more lesions. A total of 100 vertebrae were involved. The thoracic spine was the most affected. The most frequent lesion location was in the vertebral body in 88% of the cases. The symptoms were pain (87%), reduced range of motion, deformity, and neurologic deficit. Biopsy was performed in 48 patients. Thirty-nine patients received medical treatment, 28 used orthoses and six required surgery. Six patients (12%) recurred at a mean of 3 years and 5 months (range 2–12 years). In all cases, neurological symptoms, torticollis, and deformities resolved after medical or surgical treatment. Because of the variable presentation of the disease, ranging from a solitary isolated vertebral lesion to polyostotic and multisystemic involvement, a multidisciplinary team is required to have an adequate management of these patients and to obtain good results.

Background Non-traumatic acquired spinal deformities represent a separate entity within the axial pathologies in children. Their causes are variable (neurological, muscular, infectious, especially Pott's disease, inflammatory or tumoral). The etiological diagnosis can be clinically oriented by pain, medical history, especially rheumatic. The contribution of the CT scan is crucial, as it localizes the lesion, specifies its nature, but above all it helps the histological diagnosis by guided biopsies. Our case illustrates the difficulties in diagnosing the aetiology of spinal acquired deformity in a girl with a multi-evocative context. Observation A 14 years-old girl complains for a few months of a dorso-lumbar spinal pain and a vicious attitude. Her medical history includes femoral thrombophlebitis and psoriasis. She had no trauma or fever. Clinically, the general state is preserved, with no local inflammatory signs, a kyphotic attitude with an analgesic lumbar support was noted. The rest of the locomotor exam was normal. CT scan shows cancellous body geodes with a double mirror. Discussion Acquired spinal deformities are always secondary to general disease. The fever may point to bacterial infections, especially tuberculosis (Pott's disease), but also non-infectious causes such as a rheumatic disease. For our patient, psoriasis argues for the latter possibility. However, the rarity of isolated disco-vertebral involvement and the severity of the lytic lesions are against this diagnosis. The histopathological exam showed an eosinophilic granuloma, confirming the histiocytosis X diagnosis. The cortico-response strengthen the diagnosis. The course was marked by the bone remodeling with the posture correction. Conclusion A clinical, radiological, and histological analysis allow the etiological orientation in front of acquired spinal deformity.

Langerhans cell histiocytosis (LCH) is a rare disease of unknown etiology that affects several organs. The fatal type of Langerhans cell histiocytosis is called Letterer Siwe disease (LSD) which is multisystem with a poor prognosis. Herein, we report a 20-month-old male who was admitted for recurrent pulmonary infections at the age of 10 months. Diagnostic workup revealed a Letterer-Siwe disease. The patient was treated with a good response.

Background Langerhans cell histiocytosis (LCH) is a rare disorder characterized by abnormal proliferation and infiltration of histiocytic cells. Methods This review focused on the main aspects associated with LCH. Results LCH can involve single or multiple organs and systems, with bone and skin being the most commonly affected sites. Regarding skeletal manifestations, the jawbones are involved in about 20%-30% of all cases. Such lesions may present as unilocular or multilocular images mainly affecting the posterior mandible. Oral soft tissue lesions may also occur, with the gingiva and hard palate being the most frequently affected sites. Conclusion The diagnosis and management of LCH are challenging, requiring a multidisciplinary approach, with dentists playing a central role since oral manifestations can be the first sign of the condition.

The article describes a case of Letterer-Siwe disease (Langerhans cells histocytosis, histiocytosis X) in a 1-year-old infant, presents the authors` own observations focusing on the macroscopic and histological picture of skin lesions. The work also notes difficulties of diagnosis of this disease. Reliable morphological features of Letterer-Siwe disease were revealed during the histologic examination of the skin.

Introduction: Langerhans cell histiocytosis (LCH) is a rare uni or multisystem disorder associated with extreme production of immunoreactive Langerhans cells. Although this disorder has been reported in all age groups, spinal involvement especially thoracolumbar spine is seldom reported in toddlers. Case presentation: We present a one (1) year, four (4) months female child with a history of recurrent fever, irritability and severe anemia of one (1) month duration. CT-scan and MRI revealed a collapsed twelfth thoracic vertebra (T12) body height greater than 95% with a huge intradural soft tissue mass. T12 cortectomy via posterior thoracolumbar approach was used to decompress the soft tissue part followed by interbody fusion with titanium cage filled with autologous iliac crest bone graft, fixation using plates and screws. Conclusion: We are of the view that surgical decompression of spinal LHC lesions with interbody fusion with titanium cage filled with autologous iliac crest bone graft and fixation using plates and screws is very crucial in relieving neurological deficits. However, the patient will need repeated surgeries as she advances with age in a timely manner to avert any neurological deficit that may occur. Keywords: Langerhans cell histiocytosis (LCH), Letterer-Siwe disease, Hand-Schüller-Christian disease, Eosinophilic granuloma

Introduction/Objective Filiform polyposis (FP), also referred as inflammatory polyposis or pseudopolyposis, is an uncommon benign entity usually diagnosed in patients with history of Crohn’s disease, ulcerative colitis, interstitial tuberculosis or histiocytosis X. It is characterized by multiple finger-like mucosal projections/pseudopolyps seen more commonly in transverse and descending colon. Pathogenesis of FP is uncertain but it is hypothesized to be reactive process to chronic inflammation leading to formation of fingerlike projections. The term filiform polyposis was coined in 1974 by Appleman HD and his collegues to describe numerous long slender worm-like (filiform) colonic lesions seen in radiographs. Herein, we are going to present a case of FP diagnosed in a 20-year-old male with history of medically refractive ulcerative colitis. Methods/Case Report The patient is a 20-year-old male, with a history of medically refractive ulcerative colitis on systemic steroids and vedolizumab. He underwent sigmoidoscopy and colonoscopy which reveals multiple pedunculated, polypoid lesions, ranging from 0.5 to 3 cm in length with white tips (cap of purulent mucous). Patient underwent total abdominal colectomy with end ileostomy. The specimen received by our deparment consist of a segment of right colon (63 cm in length, 3.5 cm in diameter) with attached ileum (3 cm in length, 2 cm in diameter) and appendix (6 cm in length, 0.8 cm in diameter). The part of the right colon is constricted/strictured measuring 24 cm in length, 2 cm in diameter. Opening reveals numerous (>100) pedunculated, finger-like polypoid lesions measuring from 0.3 cm to 2 cm in length. The lesions involve the entire right colon including distal colonic surgical margin. Appendix and ileum are not involved by the lesion and grossly unremarkable. Microscopic evaluation of the lesions reveal acute and chronic inflammatory cells, granulation tissue, areas of necrosis and reactive changes with focal mucosal atrophy consistent with chronic ulcerative colitis. Results (if a Case Study enter NA) NA Conclusion Filiform polyposis (FP) is an uncommon benign entity commonly seen in association with Inflammatory Bowel Diseases. Diagnosing FP requires comprehensive gross and microscopic examination as well as review of clinical history and imaginig studies. Because of its uncommon nature, we recommend to report this entity to raise awareness and to educate the pathologists who have not diagnosed it before.

Langerhans histiocytosis is the recent term used for the complex syndrome consisting of three sub types 1. Eosinophilic granuloma, 2. Hand-Schuller Christian disease and 3. Letterer-siwe disease. The clinical manifestations vary with each entity. Although rare, radiological findings present a typical pattern. Advanced Imaging adds to the plain film diagnosis. The Imaging findings are illustrated in detail.

Langerhans cell histiocytosis (LCH) is a rare condition, and even rare is cervical spine involvement.A 9-year-old girl had neck pain, neck tilt and left upper limb weakness, occasional fever and positive family history of tuberculosis. Imaging showed C5 vertebral body collapse with epidural and prevertebral soft tissue collection causing cord and nerve root compression. The patient underwent C5 corpectomy and fusion. Histopathological was suggestive of LCH. She underwent radiotherapy and was asymptomatic at 1-year follow-up.Despite the rarity of the condition, the possibility of LCH should be considered in such cases. When neurologic deficits are present, operative treatment should be considered.

Langerhans’ cell histiocytosis is a collective term used to describe a group of enigmatic, proliferative disorders. The natural history of the disease varies from a slow, benign, localized, symptomatic bony or soft-tissue lesion, to a rapidly, progressive, widespread, multiple-organ disorder which is often fatal. Eosinophilic granuloma (EG) accounts for 60–70% of all cases of Langerhans’ cell histiocytosis and can present as solitary (50–75%) or multifocal defects in bone. It occasionally presents as a localized soft-tissue lesion. Multiple treatment options are available but the response is unpredictable. However, no studies show complete resolution following a conservative modality of treatment in the management of EG of condyle and ramus. We describe a case, treated with intralesional injections of triamcinolone acetonide (Tricort 40 mg/ml, 6 injections at weekly intervals over 6 weeks), leading to complete resolution of the lesion, along with a brief mention of the review of literature.

Background: Letterer–Siwe Disease (LSD) is one of the variants of Langerhans cell histiocytosis (LCH), which is considered as a rare disease that affects many systems in the body; it is characterized by monoclonal migration and proliferation of specific dendritic cells. The disease affects the bones and skin primarily, but can involve other organs as well, or appear as a multi-system disease leading to different clinical manifestations and eventually death. Summary: The authors present a case report of LSD in a two-year-old child from western Sudan, Messeria tribe, who is presented with one and a half-month history of fever, cutaneous ulcers, purprae, scaly crusted scalp, and pallor. His full blood count showed very low Hb with marked reduction of platelets. TWBC was normal. US showed hepatosplenomegaly with lymphadenopathy. A suspicion of sickle cell anemia and leukemia was suggested. He received treatment in his area in the form of antibiotics, skin care, blood transfusion and platelets aggregate without improvement. Patient was referred to Khartoum for further investigations and management. On presentation, a diagnosis of histiocytosis x was suggested depending on the clinical presentation of a general ill health in a child with purpurae, skin ulcers, and a scaly crusted scalp. A skin biopsy, bone marrow aspirate, and a skull x-ray were requested. Bone marrow aspiration showed hyper cellular BM with marked hemophagocytosis. Patient was admitted in a pediatric ward for further general investigations and blood transfusion, but he passed few days later before starting chemotherapy. Usually this is the prognosis of this rare and fatal aggressive form of histiocytosis x. Conclusion: A sick child with fever, anemia, hepatosplenomegaly, scaly scalp, and skin lesions should be investigated for LSD. Keywords: Langerhans cell histoctosis (LCH), Letterer–Siwe Disease (LSD), seborrheic dermatitis

Object The goal of this study was to review a large series of patients with Langerhans cell histiocytosis (LCH) who had craniospinal lesions to assess the long-term course, outcome, and efficacy of treatment of the disease. Methods Forty-four patients with LCH who presented to a single pediatric neurosurgical department between 1976 and 2006 were retrospectively reviewed. Results This series included 29 boys and 15 girls, ranging in age from 2 months to 13 years, with a mean follow-up duration of 4.5 years. Twenty-seven patients (61%) had unifocal bone lesions, 12 (27%) had multifocal bone disease, 2 (5%) had solitary hypothalamic–pituitary axis lesions, and 3 (7%) had multiple organ involvement at presentation. Five (19%) of the 27 patients with unifocal bone disease and 4 (33%) of the 12 patients with multifocal bone disease had delayed development of new bone lesions during the follow-up period. The time to development of new bone lesions ranged from 1 month to 1 year. Two of the 3 patients with multiple-organ LCH died. Patient age ≤ 2 years at the time of initial presentation was a risk factor for both initial multifocality and eventual dissemination. In all patients with initial multifocal bone involvement or later dissemination of unifocal bone disease, LCH was controlled by chemotherapy, except for 2 who were treated by surgery alone. Three patients had histological evidence of spontaneous resolution of their lesions. Conclusions Patients with unifocal LCH can be effectively treated with surgery alone. Very young patients are more likely to have multifocal disease and disseminations, and will usually require chemotherapy to control their disease. Spontaneously regressing lesions need not be resected; however, a biopsy procedure can be performed for diagnostic purposes.

UNLABELLED Congenital self-healing reticulohistiocytosis (CSHRH), a rare disorder initially seen at birth or in the newborn period, is characterized by spontaneously involuting skin lesions. We present the case of a 12-d-old female who was born with many red-brownish nodules scattered over her entire body, and which regressed spontaneously. CONCLUSION Although there are no clues to differentiate CSHRH from Letterer-Siwe disease, some signs and symptoms might enable us to reach an accurate diagnosis. A long-term follow-up to detect evidence of relapse or progression of the disease would be well advised.

Langerhans cell histiocytosis (LCH) is a complex disease entity comprised of three distinct clinical syndromes that demonstrate indistinguishable histology. These syndromes are: eosinophilic granuloma, which is predominantly osseous or pulmonary; Hand-Schûller-Christian's disease, which involves multiple organ systems and, most typically, the skull base; and Letterer-Siwe's disease, the most severe disease manifestation, which typically involves the abdominal viscera. This article reviews our current understanding of Langerhans cell histiocytosis by discussing the history, histology, etiology, and treatment of the disease. It focuses on the radiographic findings and imaging modalities that are the most useful in disease diagnosis and management.

Langerhans cell histiocytosis (LCH) has diverse presentations which can bring it before all physicians regardless of specialty. A retrospective audit was undertaken at Westmead Hospital, Sydney, Australia, to ascertain the incidence, epidemiology and clinical features of patients with LCH over a 10-year period (1994-2004). A total of 12 patients was identified (six male, six female). Eleven patients had involvement of the skeletal system, three of the patients had pulmonary LCH and only one patient presented with soft tissue involvement (nose and antrum). Three patients had diabetes insipidus. Our results are consistent with that noted in the published literature and confirm the low incidence, diverse nature of presentation and the differing treatment strategies available for this rare and yet interesting condition.

Histiocytosis of Langerhans cells (class 1 histiocytosis) includes a range of clinical manifestations that have been described as bone eosinophilic granuloma, Hand-Schüller-Christian syndrome, and Letterer-Siwe diseases. This syndrome represents a spectrum of severity and prognosis of some underlying disorder which is usually sporadic. This report describes three cases in one family, who developed the disease a few years after their brother was found to be suffering from histiocytosis. All 3 patients had the same clinical manifestations: hyperthermia, eczematic rash, and swelling in skull, hand, and foot. X rays showed lytic areas in the skull and metacarp of fourth finger. Serology for EBV infection was negative. Infiltration of abnormal Langerhans cells histiocytes were demonstrated in bone biopsies. These patients were given chemotherapy. Case 1 (brother) died 1 year after chemotherapy, case 2 (girl) was given chemotherapy without success. She was given T-cell suppressor (cyclosporine), which induced remission, and case 3 was given chemotherapy, which was successful.

Introduction Atypical lymphoproliferative, histiocytic, and dendritic cell disorders often mimic their more common benign or malignant counterparts, and thus can easily be misdiagnosed. Although it may be challenging to identify these unusual disease entities precisely, doing so may significantly alter further evaluation, prognosis, and management of the patient. Multidisciplinary collaboration between clinicians and pathologists is often required to arrive at a definitive diagnosis. Critical to this process is obtaining adequate tissue, ideally through excisional lymph node biopsy. Although core-needle biopsy may sometimes yield a diagnosis, for many of these entities it will be inadequate. Fine needle aspiration has been demonstrated to be of little value in the diagnosis of lymphoproliferative disorders, as it does not provide an adequate assessment of tissue architecture. In cases where a biopsy is equivocal, additional biopsies may be necessary to establish a firm diagnosis. In this chapter, we will summarize the pathophysiology, presentation, diagnosis, prognosis, and treatment of atypical lymphoproliferative, histiocytic, and dendritic cell disorders. Three main categories of these disorders have been defined (Table 17.1). Benign conditions, such as Kikuchi's disease, often behave indolently and can usually be managed with observation. Histiocytic disorders exhibit a wide range of behavior, and may require more aggressive therapies. Atypical lymphoproliferative disorders can be polyclonal, such as Castleman'sdisease, or malignant, such as lymphomatoid granulomatosis, and are treated in a variety of different ways.

Among the several forms of Langerhans cell histiocytosis (LCH), Letterer-Siwe disease is the most acute disseminated multisystemic variant. The course of Letterer-Siwe disease is usually rapid and fatal. We report here a cases of Letterer-Siwe disease which showed a good response to chemotherapy. We also describe the unusual ultrastructural findings in the histiocyte-like cells in this case.

Langerhans cell histiocytosis is known to mimic many other conditions. We present two patients where anti-tubercular therapy was instituted when clinical and radiological features suggested tuberculosis. The correct diagnosis of histiocytosis was reached only on further work-up including immunohistochemistry following un-responsiveness to treatment. In retrospect it was felt that an inordinately high index of suspicion for tuberculosis, clinical and radiological overlap between the two entities, an urgency to start empirical therapy in a rapidly deteriorating patient and pathological similarities between epithelioid histiocytes and pathologic Langerhans cells led to the diagnostic and therapeutic errors. Pediatr Blood Cancer 2009;53:111–113. © 2009 Wiley-Liss, Inc.

Despite extensive literature on Langerhans’ cells histiocytosis, it is a poorly understood disease. Controversies exist with respect to its terminologies, origin, classification staging, and management. Recognizing their clinical relationship and pathological similarities, Lichtenstein, in 1953, grouped three conditions (namely, eosinophilic granuloma, Letterer-Siwe disease, and Hand-SchiillerChristian disease) under a general termhistiocytosis X.’ Because the lesions in each disease contain a common histological appearance, that is, the presence of Langerhans’ cells histiocytes and “small round cells” with a varying number of eosinophils, Lichtenstein proposed that these diseases were simply different expressions of the same basic disorder.2 The chronic form, which localized to bone as solitary or multiple lesions, was called eosinophilic granuloma. The disseminated chronic form, involving both skeletal and extraskeletal tissues, was termed Hand-SchiillerChristian disease. Letterer-Siwe disease was defined as the acute or subacute disseminated form of histiocytosis X.3 Letterer-Siwe disease is the most malignant of the three forms and is almost exclusively seen in infants. Libermann et al, in an extensive review, have suggested that both eosinophilic granuloma and Hand-Schiiller-Christian disease represent different expressions of

Various treatment modalities exist for Langerhans cell histiocytosis(LCH) due to its uncertain aetiology.. LCH patients are clinically divided into a single and multisystem group and each group warrants a different approach to treatment. However, histologically, CD Ia antigen and Birbeck's granules have been implicated in both types of the disease. This article therefore describes clinical presentations of different forms of the disease and the treatments contrived for them. The single system group is treated conservatively with either curettage of the localised lesion, intralesional steroid injection or in some cases radiotherapy. For the multisystem group, treatment consists of chemotherapeutic agents as either a single or combination therapy.

Background Langerhans cell histiocytosis (LCH) in adults first presenting in the skin is rare. Guidelines for staging, treatment and follow-up are lacking.Objectives To better define staging procedures, treatment results and clinical course in adult patients with LCH first presenting in the skin.Methods Eighteen adult patients with LCH first presenting in the skin were collected from five centres collaborating in the Dutch Cutaneous Lymphoma Group. Clinical records and (skin) biopsy specimens were reviewed and follow-up data were obtained. A literature search on adult patients with LCH presenting in the skin was performed.Results Staging procedures showed extracutaneous disease in three of 16 patients who were adequately staged. One patient had a histologically confirmed lytic LCH bone lesion, while two patients had a myelodysplastic syndrome. During follow-up two of 18 patients developed extracutaneous localizations of LCH. Five patients developed a second haematological malignancy, including (myelo)monocytic leukaemia (two cases), histiocytic sarcoma (one case), diffuse large B-cell lymphoma (one case) and peripheral T-cell lymphoma (one case). Review of the literature revealed six other adult patients with a second haematological malignancy preceding or following a diagnosis of LCH.Conclusions The results of the present study suggest an increased risk of a second haematological malignancy in adult patients with LCH presenting in the skin. Extensive staging at presentation and long-term follow-up are therefore warranted in such patients.

Langerhans cell histiocytosis is a rare disorder that occurs when there are too many of type of white blood cell called a Langerhans cell. We describe a 3-months infant girl who developed wide spread skin lesions since she was 4 days of age. . The diagnosis of Langerhans cell histiocytosis was confirmed by histopathology. We report this case as a first Langerhans cell histocytosis to be reported in an infant.

From the Department of Radiology, Division of Neuroradiology,a and the Department of Dermatology,b Indiana University Medical Center; and the Department of Oral Surgery Medicine and Pathology, Indiana University School of Dentistry.c Reprint requests: Ginat W. Mirowski, DMD, MD, Department of Dermatology, 550 N University Blvd, Suite 3240, Indianapolis, IN 46202-6267. E-mail: gmirowsk@iupui.edu. J Am Acad Dermatol 2001;44:509-11. Copyright © 2001 by the American Academy of Dermatology, Inc. 0190-9622/2001/$35.00 + 0 16/1/109304 doi:10.1067/mjd.2001.109304 LANGERHANS CELL HISTIOCYTOSIS Langerhans cell histiocytosis has replaced the term histiocytosis X, originally coined by Lichtenstein in 1953 to link 3 related clinical entities of unknown origin, characterized by Langerhans cell proliferation (Letterer-Siwe disease, Hand-Schuller-Christian disease, and eosinophilic granuloma).

Background and importance Langerhans cell histiocytosis (LCH) is an uncommon disease, usually affecting the cranium and peripheral bones. We present a rare case of isolated optic chiasm involvement by LCH to highlight the importance of considering LCH in the differential diagnosis of optic chiasm lesions. Clinical presentation A 71-year-old woman presented with a 6-week history of worsening peripheral vision, headaches, weakness, cold sensitivity, and fatigue. She was found to have dense bitemporal hemianopsia. Magnetic resonance imaging revealed a 2-cm lesion, contrast enhancing on T1 and bright on T2 signal, involving the optic chiasm but not the pituitary gland. Preoperative considerations included optic nerve glioma, choristoma of the stalk, sarcoid, hypothalamic glioma, and Langerhans cell histiocytosis. The patient underwent a right subfrontal craniotomy for biopsy of the lesion. The optic chiasm was grossly enlarged with no tissue external to the chiasm. A midline incision was made in the lamina terminalis, and multiple biopsies were taken of firm fibrous material. Histologically, the tumor was characteristic for LCH and included a mixture of histiocytes with features of Langerhans cells, eosinophils, small lymphocytes, macrophages, neutrophils, and plasma cells. Conclusion LCH is a rare disease, generally affecting bone, skin, lymph nodes, and in more severe cases, visceral organs. LCH involving the optic pathways is a rare condition that should be included in the differential for adults with mass lesions involving the orbit, eye, optic nerve, or chiasm. Future clinical and basic science research is needed to better understand LCH, its molecular origin, and its growth pattern.

Langerhans cell histiocytosis (LCH) is a rare clonal disorder of unknown etiology and characterized by the proliferation of dendritic cells. LCH most commonly involves the bone followed by the skin and the lymph nodes. Recently, only a few cases of LCH with predominant lymph node involvement have been diagnosed by fine-needle aspiration cytology (FNAC). A 2-year-old boy presented with generalized lymphadenopathy, fever, and cough. The patient had hepatosplenomegaly, anemia, and lytic lesions in the skull. FNAC from the largest submandibular lymph node showed features of LCH. The large cells of LCH showed positive immunostaining for S-100 protein on FNAC smears. Later, lymph node biopsy and immunohistochemistry against S-100 protein and CD1a confirmed the diagnosis of LCH. The patient was treated with chemotherapy and he is under regular follow-up. This case report highlights the importance of FNAC as a rapid and accurate investigation in the diagnosis of lymph node predominant LCH.

Langerhans cell histiocytosis (LCH) is a very rare disorder, and usually considered a disease of childhood. The adult form of LCH is even rare, and in some case may be considered to represent delayed presentation of a pathologic process beginning in childhood. This case report highlights the range of presentations of LCH possible even in a single patient, and supports the contention that some adult LCH cases may be due to delayed presentation of childhood LCH.

The histiocytic disorders are defined as disorders due to an abnormal accumulation of cells of the mononuclear phagocytic system (MPS), consisting of dendritic cells (DCs) and macrophages. They comprise a wide variety of diverse conditions that affect both children and adults, and have been difficult to classify and to treat. Figure 1.1 is a simplified schematic representation of the development of various components of the MPS from the primitive CD34 hematopoietic stem cell. 1

Eosinophilic granuloma is a localised painful lesion of either of skull bone, ribs or pelvis with a good prognosis. Calvarial swellings have an affinity to temporal bone. Recently eosinophilic granuloma has been grouped along wiht Letterer Siwe disease and Hand Schuller Christian disease under a common heading called Histiocytosis-X.

A 15-month-old girl with Langerhans cell histiocytosis (LCH), Letterer-Siwe disease, was referred to our hospital in 1984. Whilst on treatment with cytotoxic drugs, a perirenal mass was detected and hydronephrosis became evident when she was 29 months old. Percutaneous nephrostomy tubes were placed in the pelvis, bilaterally and replaced every 6 months. The mass was not completely controlled and chronic pyelonephritis continued. Biopsy of the mass convoluted kidney hilus revealed histiocytic invasion. Although multiple organ systems are involved in LCH and abdominal malignant tumours may be accompanied by hydronephrosis, to our knowledge, this is the first case report of abdominal LCH and the ensuing hydronephrosis. Percutaneous nephrostomy tubes proved useful, but more convenient, less painful and infection-limited approaches need to be designed.

Histiocytosis is a rare disease of unknown aetiology which commonly affects the head and neck region. In the ear it can closely mimic acute and chronic ear disease leading to a confusion in diagnosis. It can be easily misdiagnosed unless a high index of clinical suspicion is maintained. We present a case of Letterer Siwe disease of the temporal bone which presented with bilateral mastoid abscesses.

Langerhans cell histiocytosis (LCH) is a rare proliferative disorder in which Langerhans's cells accumulate in a variety of organs. LCH affects mostly children and adolescents, involves one or many body systems or tissues such as bone, lung, hypothalamus, posterior pituitary gland, skin, lymph node, liver, and various soft tissues. The clinical features of LCH depend on the extent of involvement. Here in, we report a case of 2-year-old girl presented with fever, swelling in front and behind of right ear and ear discharge. She had anaemia and lytic lesions on skull x-ray and high resolution computed tomography. Biopsy was performed and histopathology and immunohistochemistry findings suggested diagnosis of LCH.

Purpose: We report the unrecognized association of Langerhans cell histiocytosis (LCH) with partial DiGeorge syndrome. Patient and Methods: A 7-week-old infant with endocrine and immunologic characteristics of DiGeorge syndrome displayed multisystem involvement of Letterer-Siwe disease at birth. Results: Despite vigorous medical support and chemotherapy, she died at 9 months of age with multisystem failure. Conclusion: This case supports the role of the thymus in the pathogenesis of LCH.

Langerhans cell histiocytosis includes three clinical forms of histiocytosis X. We describe a disseminated form of Langerhans cell histiocytosis (Letterer-Siwe disease) in monozygotic twins. The twins showed simultaneous onset of disease, almost identical clinical follow-up and findings on cranial CT. The cause of this phenomenon remains unknown.

Class I Langerhans cell histiocytosis (LCH) is described in a two- and a half-year-old male. The initial expression of the disease was conspicuous by the presence of extensive pustular crusted rash and, later in its course, by purpura, diabetes insipidus, otitis media, enlargement of the liver and spleen, and infiltration into the lungs. The patient expired due to extensive hemorrhage over 24 hours.

Abstract SCI-8 Langerhans cell histiocytosis (LCH) is a disorder characterized by inflammatory lesions that include pathologic CD207+ dendritic cells. LCH has pleotropic clinical presentations ranging from single lesions cured by curettage to potentially fatal multisystem disease. The first descriptions of LCH, including Hand-Schüller-Christian disease and Letterer-Siwe disease, were based on anatomic location and extent of the lesions. Despite clinical heterogeneity, LCH lesions are generally indistinguishable by histology, which led to the notion that the spectrum of clinical manifestations represents a single disorder, histiocytosis X. The designation “Langerhans cell histiocytosis” was subsequently proposed with discovery of cytoplasmic Birbeck granules in the pathologic infiltrating dendritic cells in histiocytosis X lesions, a feature shared by epidermal Langerhans cells. The etiology of LCH remains elusive, and debate of LCH as an inflammatory versus malignant disorder remains unresolved. However, recent discoveries question the model of LCH arising from transformed or pathologically activated epidermal Langerhans cells. We found cell-specific gene expression signature in CD207+ dendritic cells within LCH lesions to be more consistent with immature myeloid dendritic cell precursors than epidermal Langerhans cells. Furthermore, recent mouse studies demonstrate that CD207+ is more promiscuous than previously appreciated. Langerin (CD207) expression can be induced in many dendritic cell lineages, supporting the plausibility of a spectrum of candidates for an LCH cell of origin, including circulating dendritic cell precursors. Finally, recurrent activating BRAF mutations in LCH lesions suggest a role for a hyperactive RAS pathway in LCH pathogenesis, and possibly in normal dendritic cell development. This presentation will discuss the historical background and recent advances in LCH biology, along with a proposal to reframe “histiocytosis X” as a myeloid neoplasia caused by aberrant maturation and migration of myeloid dendritic cell precursors. Disclosures: No relevant conflicts of interest to declare.

Histiocytosis X is a rare disorder with no particular predilection for race, age or sex. Since its discovery by Hand in 1893, the etiology has remained unknown, although viruses, bacteria and genetic factors have been implicated. Familial occurrence of this disease is very rare, and only a handful of such cases have been reported. The present study adds further evidence to support the influence of genetic factors in the etiology of histiocytosis X.

Xanthogranulomas of the dura presenting with clinical symptoms are rare. We report here a case of a huge dural xanthogranuloma in the middle cranial fossa. which caused hemiparesis through marked displacement and stenosis of the middle cerebral artery. Although such tumors usually arise in association with histiocytosis X or familial hyperlipoproteinemia, the present case was not associated with these diseases.

The authors describe a 42-year-old woman with systemic xanthogranulomatosis and bilateral intraorbital tumors, who subsequently developed multiple lesions of the intracranial dura mater, spinal cord, retroperitoneum, pericardium, and mediastinum. Systemic xanthogranulomatosis is histologically similar to systemic Weber-Christian disease, except for the absence of subcutaneous panniculitis. Immunohistochemical studies suggest that this clinical entity can be differentiated from histiocytosis X, because foamy cells in systemic xanthogranulomatosis demonstrate macrophages but not T-zone histiocyte markers. Differentiation of this disease from other intracranial xanthogranulomas and treatment are discussed.

Twenty-seven cases of histiocytosis X (HX) for which paraffin blocks were available were studied with the use of S-100 protein immunohistochemistry, peanut agglutinin affinity histochemistry, and transmission electron microscopy. The results show that these techniques did enable identification of Langerhans'-type histiocytes in 88.5%, 75%, and 47.4% of cases, respectively. All techniques were proved to be of some diagnostic value for HX, but none was able to confirm the diagnosis in all instances and none could foretell the prognosis of the patients. This study shows that besides the Langerhans' cells, the indeterminate cells of the skin and the interdigitating dendritic reticulum cells of the lymph node may also be involved in this process. Moreover, some multinucleate giant cells and foamy cells may be derived from Langerhans' and related cells.

Eight cases with malignant histiocytosis (MH), two cases with systemic Letterer-Siwe disease, and one case with sarcomatous variant of MH were studied clinicopathologically. Characterization of neoplastic histiocytes was performed by immunohistochemical staining for S100 protein, lysozyme, and nonspecific cross reacting antigen with carcinoembryonic antigen (NCA). The immunohistochemical characteristics of histiocytes were S100+lys-NCA- in eight MH and two Letterer-Siwe disease cases and S100-lys+NCA+ in the sarcomatous variant of MH. MH and Letterer-Siwe disease were considered to have derived from a specific S100+ histiocytic cell lineage (T-zone histiocyte with S100 protein) independent of the monocyte--macrophage system, from which a sarcomatous variant was derived. Leukemic change of MH was discussed with special reference to the maturation and differentiation of T-zone histiocytes.