Slovo úvodem

Zdeněk Adam

Vnitr Lek 2010, 56(Suppl 2):7  

An overview of the histiocytic diseases that are a subject to this Vnitřní lékařství supplement

Z. Adam, Z. Adamová, M. Krejčí, L. Pour, P. Szturz

Vnitr Lek 2010, 56(Suppl 2):9-21  

Histyocytoses are rare diseases, the incidence of which has not been precisely estimated; the incidence of Langerhans cell histiocytosis is around 1 to 2 cases per a million inhabitants, the incidence of other histiocytic diseases is significantly lower. Histiocytoses include histiocytic sarcoma, Langerhans cell histiocytosis, Langerhans cell sarcoma, interdigitating dendritic cell sarcoma, follicular dendritic cell sarcoma, fibroblastic reticular cell tumours and patients classified as having juvenile xanthogranuloma; this category also includes Erdheim-Chester disease. The text briefly introduces each disease. Other papers included in this supplement...

Langerhans cell histiocytosis in adults

C. Doberauer

Vnitr Lek 2010, 56(Suppl 2):22-26  

Langerhans cell histiocytosis in adults is a rare disease with potential involvement of all organs with or without organ dysfunction. In our single institution, 95 patients with histologically confirmed LCH were treated. At time of diagnosis, more than 1/3 of the patients had shown multi-system disease. Reactivations of LCH occurred in about 1/4 of the patients within a median of 6 years, especially in other individual organs. For staging and determination of organ dysfunction extensive diagnostic is necessary. There are a lot of treatment options in relation to isolated organ involvement or systemic disease. It makes sense to approach the disease...

Langerhans cell histiocytosis: a pathologist view

R. Kodet, M. Mrhalová

Vnitr Lek 2010, 56(Suppl 2):27-38  

Langerhans cell histiocytosis is a clinico-pathological entity with a wide spectrum of clinical and morphological findings. The disease was defined on the basis of recognition of three entities in medical history - Hand-Schüller-Christian disease, Letterer-Siwe disease and eosinophilic granuloma of bone. Later on in the past, these diseases were linked under a term histiocytosis X. With identification of a common cell of origin, the Langerhans cell, a name "Langerhans cell histiocytosis" (LCH) has been accepted. This review summarizes more than a hundred-year evolution of views on the disease. Langerhans cells are identified with the aid of histopathological...

Pathology of histiocytoses of non-Langerhans cell type

L. Plank

Vnitr Lek 2010, 56(Suppl 2):39-63  

The paper offers a review on pathology of histiocytoses of non-Langerhans cell type, especially focused on neoplastic forms of the histiocytic disorders according to the WHO classification of tumours of hematopoietic and lymphoid tissues (2008). The review is based on lineage-specific histogenetical typing of histiocytic and dendritic cells distinguishing histiocytes (makrophages), dendritic cells of myeloid origin and dendritic cells of the stromal type (of mesenchymal origin). The tumours are classified as follows: histiocytic sarcoma, sarcoma of interdigitating, indetermined, dermal (intersticial) and plasmacytoid dendritic cellss and sarcomas (tumours)...

Langerhans cell histiocytosis in children and adolescents

H. Mottl

Vnitr Lek 2010, 56(Suppl 2):64-73  

The histiocytosis represents the rare diseases with large biological behavior and clinical symptoms, as well. The Langerhans cell histiocytosis is the most frequent entities in children in this category. The paper does the summary of the etiology, biology, clinical aspects, diagnostic possibilities, and therapeutic outcomes of LCH. The crucial prognostic value represents disease extension: single-system in compare with multi-system LCH. The role of treatment in some LCH forms is questinable but in other forms the chemotherapy is important. Histiocytosis affects all age groups but more than 50% cases concern children up to 15 years of age. There are...

Langerhans cell granulomatosis

J. Homolka, I. Haškovcová

Vnitr Lek 2010, 56(Suppl 2):74-75  

Langerhans cell granulomatosis is a rare disease of unknown aetiology and characterized by an infiltration of alveolar septa with activated Langerhans cells and eosinophylic granulocytes. Accumulation of these cells leads to a development of multiple cystic formations. The involvement of the lungs is usually present on its own, more rarely it is seen as part of a systemic disease involving skeleton or posterior pituitary. The disease prognosis in adult patients is usually good, 80% of patients achieve remission or stabilization of the disease either spontaneously or following a corticosteroid therapy, 10-20% of cases progress to respiratory failure.

Head and neck manifestation of Langerhans' cell histiocytosis

P. Smilek, M. Pažourková

Vnitr Lek 2010, 56(Suppl 2):76-84  

Head and neck region used to be involved in almost 90% of patients with Langerhans cell histiocytosis (LCH). Symptoms in head and neck region could be the first symptoms in multisystem disease. Physician should have a suspicion on LCH in patient with long lasting discharge from the ear not reacting on current antibiotic treatment, enlargement of neck lymph nodes and tumors in the orbit. Multisystem disease should be in patient with osteolytic lesions of the scull which are combined with endocrinology and neurology symptoms (diabetes insipidus etc). The base of treatment in multisystem disease is in systemic chemotherapy and radiotherapy; surgery has...

Langerhans cell histiocytosis (LCH) in orofacial region

A. Fassmann, L. Izakovičová Hollá, P. Augustín, J. Vokurka, J. Vaněk

Vnitr Lek 2010, 56(Suppl 2):85-90  

Langerhans cell histiocytosis (LCH) is a rare disease of unknown origin. It is characterized by intense and abnormal proliferation of bone marrow-derived histiocytes (Langerhans cells). This disease has a broad spectrum of forms and severity of clinical manifestations, it invades bones, skin, mucosa as well as the inner organs. This case report describes a 33-year monitoring of a patient with a chronic diffuse form of LCH, so called Hand-Schüller-Christian disease. Apart from skin manifestations, this patient also had infiltrates of the oral mucosa, and osteolytic lesions of the alveolar bone of both upper and lower jaws. These findings helped dermatologists...

Langerhans cell histiocytosis - cutaneous aspects of the disease

V. Vašků

Vnitr Lek 2010, 56(Suppl 2):91-93  

There is discussed nature of Langerhans cell histiocytosis - reactive versus neoplastic. It represents wide clinical spectrum with localised or disseminated types of the disease. Skin lesions are very common and they could be the first symptoms. Usually involved is the scalp and trunk area. The involvement of nails and mucous membranes is possible. From treatment modalities, PUVA (photochemotherapy) is very important and it's best mode is systemic admission of psoralen with subsequent irradiation by defined part of UVA range. It can be considered as the first choice treatment for skin lesions.

CNS sequelae in Langerhans cell histiocytosis and Erdheim-Chester disease. The importance of PET-CT for the diagnostics and evaluation of treatment response

Z. Adam, Z. Řehák, R. Koukalová, P. Szturz, L. Pour, M. Krejčí, T. Nebeský, J. Vaníček, R. Hájek, J. Mayer

Vnitr Lek 2010, 56(Suppl 2):94-104  

Our centre monitors 23 patients with Langerhans cell histiocytosis (LCH) and 2 patients with Erdheim-Chester disease. Of this group of 25, 8 patients have some form of histiocytosis-associated CNS involvement. Four of the 8 patients had been referred to our centre for diabetes insipidus that developed in adulthood. In these patients, PET-CT was performed to detect potential extracranial signs of the disease that had induced diabetes insipidus. PET-CT revealed extracranial pathological changes; histological examination was performed on biopsies from these lesions. LCH was confirmed in two patients and Erdheim-Chester disease in the other...

Pulmonary involvement in patients with multiorgan Langerhans cell histiocytosis. Eight case studies and literature review

Z. Adam, T. Nebeský, P. Szturz, J. Neubauer, M. Krejčí, L. Pour, I. Hanke, M. Doubková, Z. Merta, R. Hájek, Z. Řehák, R. Koukalová, J. Mayer

Vnitr Lek 2010, 56(Suppl 2):105-122  

Pulmonary Langerhans cell histiocytosis (LCH) manifests with dyspnoea and a cough with no significant expectoration; in some patients, spontaneous pneumothorax is the first symptom. The disease is caused by multiple granulomas in terminal bronchioles, detectable as nodules on high resolution CT (HRCT). During further course of the disease, these nodules progressed through cavitating nodules into thick-walled and, subsequently, thin-walled cysts. LCH may affect the lungs only or multiple organs simultaneously. Pulmonary LCH may continually progress or remit spontaneously. Treatment is indicated in patients in whom pulmonary lesions are associated with...

PET-CT in the diagnostics and monitoring of pulmonary Langerhans cell histiocytosis

Z. Adam, Z. Řehák, R. Koukalová, P. Szturz, L. Pour, M. Krejčí, P. Krupa, T. Nebeský, Z. Adamová, J. Mayer

Vnitr Lek 2010, 56(Suppl 2):123-130  

In a sample of 7 patients with pulmonary LCH, we monitored disease activity through repeated PET-CT examinations. The small size of LCH infiltrates in bronchioles (pulmonary nodules) precludes direct measurement of their activity. Therefore, SUV_max (maximum standardized uptake value) in the right lung and SUV_max in the liver were measured, as this was achievable with the available PET-CT software. The maximum activity measured in the right lung to maximum activity measured in the liver ratio was used to express the pulmonary activity of the Langerhans cell histiocytosis, i.e. the SUV_max pulmo/SUV_max liver...

An overview of the treatment of Langerhans cell histiocytosis in adult patients

Z. Adam, M. Krejčí, L. Pour, P. Szturz, R. Hájek

Vnitr Lek 2010, 56(Suppl 2):131-140  

Treatment of Langerhans cell histiocytosis (LCH) is determined by the stage of the disease. The treatment of choice in a localized form of the disease is a surgery or local application of glucocorticoids. If skin only is affected: local glukocorticoids or tacrolimus, and, should this treatment be unsuccessful, systemic treatment with methotrexate or thalidomide or short-term PUVA therapy. A combined treatment with vinblastin and mercaptopurin with prednisone represents the first line treatment in patients with generalized disease; in case of the lack of efficacy of treatment involving vinblastin or in the case of initial treatment of...

Cladribine as the first line treatment in multifocal or multiorgan Langerhans cell histiocytosis in adult patients

Z. Adam, P. Szturz, J. Ďuraš, Z. Řehák, R. Koukalová, L. Pour, M. Krejčí, M. Navrátil, Z. Adamová, R. Hájek, J. Mayer

Vnitr Lek 2010, 56(Suppl 2):141-151  

Introduction:Vinblastin and prednisone are the traditional treatment choices in Langerhans cell histiocytosis (LCH). Cladribine has also been shown to be highly effective. It was originally used as the second and higher lines treatment and achieved high treatment response. The first report on excellent results achieved with cladribine as the first line treatment was published in 2003. Based on this report and our own experience with high efficacy of cladribine when administered as the second and higher line treatment, we use cladribine since 2003 not only for adult patients with relapsing multifocal or multiorgan form of LCH but also as...

Radiotherapy of Langerhans' cell histiocytosis

P. Čoupek, P. Šlampa, I. Čoupková, J. Gombošová

Vnitr Lek 2010, 56(Suppl 2):152-156  

Langerhans' cell histiocytosis is a rare disease, the overall incidence is only 1-3 cases per 1,000,000. The diagnostic and treatment guidelines are not exactly determined. Surgery and radiotherapy are the preferred treatment of localized form. Multifocal form or systemic disease is usually treated by chemotherapy and radiotherapy. The experience in the radiotherapy of Langerhans' cell histiocytosis is limited to the largest radiation oncology centers due to the rarity of this disease. Radiosensitivity is high, therefore only low doses of radiation are sufficient. The tolerance of radiotherapy is good, acute postirradiation reactions are small and...

Hemophagocytic lymphohistiocytosis syndrome

M. Suková, E. Mejstříková, E. Vodičková, R. Špíšek, R. Formánková, D. Sumerauer, T. Freiberger, P. Sedláček, J. Starý

Vnitr Lek 2010, 56(Suppl 2):157-169  

Hemophagocytic lymphohistiocytosis (HLH) represents a heterogenous group of specific immune-systeme deficiencies, characterized by uncontrolled proliferation of T lymphocytes and macrophages, resulting in overproduction of cytokines and inadequate hemophagocytic activity in lymphoreticular systeme and CNS. Cytokines overproduction plays a major role in a tissue damage and brings out typical clinical and laboratory features - persistant fever, hepatosplenomegaly, peripheral blood cytopenia, hypertriglyceridemia, hypofibrinogenemia and bone marrow hemophagocytosis. Full-blown HLH is a life-threatening disease rapidly progressing to multiorgan failure...

Erdheim-Chester disease in pictures

P. Szturz, Z. Adam, R. Koukalová, Z. Řehák, J. Neubauer, J. Prášek, M. Doubek, R. Hájek, J. Mayer

Vnitr Lek 2010, 56(Suppl 2):170-178  

Erdheim-Chester disease (ECD) characterized by proliferation of foamy histiocytes and their infiltration into various tissues and organs, typically the long bones of the lower extremities, is a rare disease of the non-Langerhans cell histiocytosis group. In the patients with ECD during examinations by imaging methods various pathologic changes are described, including osteosclerosis, infiltration of the hypophysis, periaortic fibrosis (coated aorta) as well as retroperitoneal fibrosis reminding of Ormond's disease. In this work we are presenting our collection of 83 images depicting these and many other interesting findings arranged into 17 pictures....

Necrobiotic xanthogranuloma - a rare cutaneous complication in a patient with multiple myeloma

L. Zahradová, Z. Adam, J. Feit, J. Stupalová, R. Koukalová, R. Hájek, J. Mayer

Vnitr Lek 2010, 56(Suppl 2):179-182  

Necrobiotic xanthogranuloma is a rare chronic destructive granulomatous disease of the skin, the incidence of which is being associated with concurrent presence of monoclonal gammopathy. The presence of a lesion might be linked to subjective symptoms such as burning, feeling of tension or pain. Because of its rare incidence, optimum treatment is not known. Despite partial treatment success, the disease tends to recur. The present paper describes a case of an 87 years old patient with this rare cutaneous complication. The patient was followed up from the age of 76 for long-term stable monoclonal gammopathy of unknown significance. In March 2008, painless...

CD4⁺56⁺ leukemia from dendritic cells type DC2

M. Pevná, J. Kissová, M. Doubek, Z. Adam, M. Klabusay

Vnitr Lek 2010, 56(Suppl 2):183-187  

CD4⁺CD56⁺ malignancies are rare hematological tumours with poor prognosis affecting primarily the skin; despite good initial response to chemotherapy, they result in early relapse and rapid progression and dissemination of the disease into the bone marrow, peripheral blood and lymphatic nodes. Even though the origin of tumorous cells was initially being associated with NK cells because of the CD56 expression, recent studies suggest the disease is derived from precursor plasmocytoid dendritic cells. It is the co-expression of CD4 and CD56 and an absence of line-specific markers that defines this new entity within the last WHO-EORCT...

Systemic mastocytosis

M. Doubek, T. Kozák, V. Vašků, P. Szturz, M. Tichá, L. Křen

Vnitr Lek 2010, 56(Suppl 2):188-194  

Systemic mastocytosis is a heterogenous disorder characterized by abnormal growth and accumulation of abnormal mast cells in one or more organs. Mast cells are derived from CD34⁺/KIT⁺ pluripotent hematopoietic cells in the bone marrow. Most adult mastocytosis patients carry gain-of-function c-kit receptor mutations, most commonly D816V in the tyrosine kinase domain. The clinical phenotype of systemic mastocytosis is variable. Many of patients are suffering from urticaria pigmentosa, followed by the flushing, cramping, abdominal pain, diarrhea, bone pain and hepatosplenomegaly. Most adult patients have systemic disease (a condition...