Pediatric mastocytosis is a heterogeneous disease characterized by accumulation of mast cells in the skin and less frequently in other organs. Somatic or germline mutations in the KIT proto-oncogene are detected in most patients. Cutaneous mastocytosis is the most common form of the disease in children. In the majority of cases, skin lesions regress spontaneously around puberty. However, in few patients, mastocytosis is not a self-limiting disease, but persists into adulthood and can show signs of systemic involvement, especially when skin lesions are small-sized and monomorphic. Children with mastocytosis often suffer from mast cell mediator-related symptoms. Severe hypersensitivity reactions can also occur, mostly in patients with extensive skin lesions and blistering. In a substantial number of these cases, the triggering factor of anaphylaxis remains unidentified. Management of pediatric mastocytosis is mainly based on strict avoidance of triggers, treatment with H1 and H2 histamine receptor blockers, and equipment of patients and their families with epinephrine auto-injectors for use in severe anaphylactic reactions. Advanced systemic mastocytosis occurs occasionally. All children with mastocytosis require follow-up examinations. A bone marrow investigation is performed when advanced systemic mastocytosis is suspected and has an impact on therapy or when cutaneous disease persists into adulthood.

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.

Mastocytosis is a rare myeloproliferative disease, characterized by excessive proliferation and accumulation of mast cells in the tissues. In cutaneous mastocytosis (CM), mast cells infiltration is limited to the skin, whereas in systemic mastocytosis (SM) internal organs are involved. The first-line treatment in CM is antimediator therapy (mainly H1 and H2 antihistamines) and short-term topical corticosteroids. Phototherapy is the second-line therapy which may be considered when antihistamines do not produce the expected improvement. New therapeutic options include omalizumab and KIT-targeting agents. Although the disappearance of skin lesions has been reported as a result of cytoreductive therapies in SM, the use of potentially toxic drugs in CM is not recommended. In all adults with mastocytosis and in pediatric patients with severe CM, a persistently elevated serum tryptase level and anaphylaxis in medical history, equipping with epinephrine autoinjector for use in case of anaphylaxis is recommended.

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Under physiological conditions, skin mast cells play an important role as guardians that quickly react to stimuli that disturb homeostasis. These cells efficiently support, fight infection, and heal the injured tissue. The substances secreted by mast cells allow for communication inside the body, including the immune, nervous, and blood systems. Pathologically non-cancerous mast cells participate in allergic processes but also may promote the development of autoinflammatory or neoplastic disease. In this article, we review the current literature regarding the role of mast cells in autoinflammatory, allergic, neoplastic skin disease, as well as the importance of these cells in systemic diseases with a pronounced course with skin symptoms.

Eosinophilic fasciitis is a rare connective tissue disease of unknown etiology. Therapeutic options include high-dose corticosteroids and other immunosuppressive drugs. We present a typical eosinophilic fasciitis case, which did not respond to first-line treatment, but improved remarkably after infliximab administration. This report demonstrates that in case of initial treatment failure, infliximab might be a relatively safe and effective way of eosinophilic fasciitis management.

Background Mastocytosis is a heterogeneous group of myeloproliferative disorders characterized by accumulation of clonal mast cells in various tissues. The aim of this study was to determine the symptoms evolution and outcome after 10 years observation. Methods Fifty‐five children with mastocytosis were included in the study group and monitored concerning mast cell mediator‐related symptoms (MC MRSs) and clinical course of the disease for a period of ≥10 years. Results Patients presented with a maculopapular cutaneous form of mastocytosis (MPCM) (n = 47) and diffuse cutaneous mastocytosis (DCM) (n = 8). The complete remission (CR) of skin lesions occurred in 10.3% of children after 10 years observation; no remission (NR) was observed in 17.9% children. The CR of skin specific MC MRS occurred in 69.2% children with MPCM and in 14.3% with DCM. Conclusion Most children with cutaneous mastocytosis (CM) eventually experience a major or partial regression of skin lesions, although complete regression before puberty is rare. The spontaneous remission of skin specific MC MRS is less frequent in children with DCM.

StreSzczenieMastocytoza jest rzadką chorobą szpiku charakteryzującą się nadmierną proliferacją i gromadzeniem się mastocytów w skórze i narządach wewnętrznych. U dzieci najczęstsza jest skórna postać tej choroby. Postać układowa pojawia się przede wszystkim u dorosłych. U chorych na mastocytozę, zarówno skórną, jak i układową, mogą występować objawy zależne od mediatorów uwalnianych przez mastocyty, takie jak: świąd skóry, flushing, hipotensja, bóle brzucha, biegunki, bóle głowy oraz reakcje anafilaktyczne. Szacuje się, że reakcje anafilaktyczne występują u około 50% dorosłych i u około 9% dzieci chorych na mastocytozę. Reakcje anafilaktyczne mogą być wywołane przez różne czynniki, m.in. jady owadów błonkoskrzydłych, leki, czynniki fizyczne, wysiłek, zakażenia, alkohol, niektóre pokarmy, alergeny. Do leków związanych z potencjalnym ryzykiem wystąpienia reakcji anafilaktycznych zalicza się: niesteroidowe leki przeciwzapalne, antybiotyki, opioidy, środki kontrastowe oraz leki anestezjologiczne. Odpowiednie przygotowanie do planowanego zabiegu inwazyjnego oraz długoterminowa profilaktyka pozwalają zmniejszyć ryzyko wystąpienia reakcji anafilaktycznej u chorych na mastocytozę. AbStrActMastocytosis 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