Aleksandra Górska

Mastocytosis in children and adults: clinical disease heterogeneity

Mastocytosis is a clonal disease of the hematopoietic stem cell. The condition consists of a heterogeneous group of disorders characterized by a pathological accumulation of mast cells in tissues including the skin, bone marrow, liver, spleen and the lymph nodes. Mastocytosis is a rare disease which occurs both in children and adults. Childhood onset mastocytosis is usually cutaneous and transient while in adults the condition commonly progresses to a systemic form. The heterogeneity of clinical presentation of mastocytosis is typically related to the tissue mast cell burden, symptoms due to the release of mast cell mediators, the type of skin lesions, the patients age at the onset and associated haematological disorders. Therefore, a multidisciplinary approach is recommended. The present article provides an overview of clinical symptoms, diagnostic criteria and treatment of mastocytosis to facilitate the diagnosis and management of mastocytosis patients in clinical practice.

Interleukin-31 Polymorphisms and Serum IL-31 Level in Patients with Mastocytosis: Correlation with Clinical Presen-tation and Pruritus.

Data on interleukin-31 (IL-31) involvement in the patho-genesis of mastocytosis, and its impact on pruritus development in the disease, are limited. The aim of this study was to analyse distinct IL-31 gene polymorphisms in 127 patients (age 0.5-76 years) with mastocytosis and their correlation with clinical presentation, pruritus and serum IL-31 levels. In patients with mastocytosis, the frequency of IL-31 IVS2+12AA genotype and IVS2+12A allele was higher than in control subjects and they were linked to an increased risk of development of mastocytosis. In adult patients, but not in children, -2057AA genotype was also associated with an increased risk of occurrence of mastocytosis. Pruritus affected 83.3% of 78 adult patients with mastocytosis, and a positive correlation between serum IL-31 levels and pruritus was found in these patients. In conclusion, distinct polymorphic variants of the IL-31 gene may be involved in the patho-genesis of mastocytosis, and IL-31 may be involved in the induction of pruritus in patients with mastocytosis.

The role of regulatory T cells and genes involved in their differentiation in pathogenesis of selected inflammatory and neoplastic skin diseases. Part I: Treg properties and functions

Regulatory T cells (Treg) can be divided into two types: the natural cells (tTreg), which arise in the thymus, and the induced cells (iTreg), which are produced in peripheral tissues during immune response. The most recently published studies indicate that the supervisory functions of these cells are weakened in the pathogenesis of autoimmune and neoplastic diseases of the skin. This may be a result of the domination of other immune cells in the skin, such as Th1/Th17/Th22 and Tc1 type in psoriasis and Th2 in atopic dermatitis. The excessive activity of Treg cells can lead to immunosuppression and decrease in the number of Th1 cells, which promote the development and progression of skin cancers. In the case of cutaneous T-cell lymphomas, there are suggestions that tumor progression is associated with the acquisition of the suppressor phenotype of malignant cells. There is genetic background of Treg dysfunction in skin disorders. This article describes the types and functions of Treg cells.

Drug hypersensitivity reactions and allergy in patients with mastocytosis

Mastocytosis is a rare myeloproliferative disease caused by excessive proliferation and accumulation of mast cells in the skin and internal organs. The most common variant of mastocytosis in children is cutaneous mastocytosis. Systemic mastocytosis dominates in adults. Both CM and SM patients suffer from mast cell mediator-related symptoms such as itching, flushing, hypotension, abdominal pain, diarrhea, headache and anaphylaxis. The prevalence of anaphylaxis in patients with mastocytosis has been estimated to be about 50% in adults and about 9% in children. Anaphylaxis may be caused by many triggers including hymenoptera sting, drugs, physical factors, exercise, infections, alcohol, some food types and allergens. Drugs which may provoke anaphylaxis include nonsteroidal anti-inflammatory drugs, antibiotics, opioids, contrast media and muscle relaxants. Appropriate preparation of a patient for medical procedures and long-term prophylaxis allow one to reduce the risk of anaphylaxis in patients with mastocytosis. nadwrażliwość i alergia na leki u chorych na mastocytozę Drug hypersensitivity reactions and allergy in patients with mastocytosis Justyna H. czarny1, Magdalena Lange1, Marek b. niedoszytko2, barbara Kwiecińska3, Aleksandra Górska2, Hanna Ługowska-Umer1, Monika Sikorska1, roman nowicki1 1Klinika Dermatologii, Wenerologii i Alergologii Gdańskiego Uniwersytetu Medycznego 2Klinika Alergologii Gdańskiego Uniwersytetu Medycznego 3Klinika Anestezjologii i Intensywnej Terapii Gdańskiego Uniwersytetu Medycznego Przegl Dermatol 2017, 104, 22–30 DOI: https://doi.org/10.5114/dr.2017.66219 SŁowA KLUczowe: leki, profilaktyka, mastocytoza, anafilaksja. Key worDS: drugs, prophylaxis, mastocytosis, anaphylaxis. ADreS Do KoreSponDencJi: Justyna H. Czarny Klinika Dermatologii, Wenerologii i Alergologii Gdański Uniwersytet Medyczny ul. Kliniczna 1a 80-402 Gdańsk tel.: +48 58 349 25 80 faks: +48 58 349 25 86 e-mail: czarnyjustyna@gmail.com

The role of regulatory T cells and genes involved in their differentiation in pathogenesis of selected inflammatory and neoplastic skin diseases. Part III: Polymorphisms of genes involved in Tregs’ activation and function

Regulatory T cells (Tregs) represent a cell type that promotes immune tolerance to autologous components and maintains immune system homeostasis. The abnormal function of Tregs is relevant to the pathogenesis of several skin diseases like psoriasis, atopic dermatitis, systemic lupus erythematosus, cutaneous T-cell lymphomas, and skin cancer and is also important in rheumatoid arthritis, diabetes and other autoimmune diseases. In this review, we will summarize the role of mutations and/or polymorphisms of genes involved in Tregs development, and functions in the pathogenesis of selected skin diseases.

The role of regulatory T cells and genes involved in their differentiation in pathogenesis of selected inflammatory and neoplastic skin diseases. Part II: The Treg role in skin diseases pathogenesis

Regulatory FOXP3+ T cells (Tregs) constitute 5% to 10% of T cells in the normal human skin. They play an important role in the induction and maintenance of immunological tolerance. The suppressive effects of these cells are exerted by various mechanisms including the direct cytotoxic effect, anti-inflammatory cytokines, metabolic disruption, and modulation of the dendritic cells function. The deficiency of Treg cells number or function are one of the basic elements of the pathogenesis of many skin diseases, such as psoriasis, atopic dermatitis, bacterial and viral infections. They also play a role in the pathogenesis of T cell lymphomas of the skin (cutaneous T cell lymphomas – CTCL), skin tumors and mastocytosis. Here, in the second part of the cycle, we describe dysfunctions of Tregs in selected skin diseases.