Mastocitose sistêmica na infância: relato de 3 casos

Abstract

Artigo submetido em 03.09.01, aceito em 30.01.02. ResumoObjetivo: mastocitose é o termo usado para um grupo de moléstias caracterizadas pelo acúmulo de mastócitos na pele, com ou sem comprometimento de outros órgãos. Os sintomas podem ser apenas cutâneos, associados aos decorrentes dos órgãos envolvidos ou também sistêmicos, pela liberação de mediadores químicos. São descritos três casos de mastocitose sistêmica, cada um com diferentes manifestações próprias da doença.Descrição: no primeiro caso é relatado um paciente com urticá-ria pigmentosa que evoluiu com persistência das lesões até a puberdade, quando iniciaram as manifestações sistêmicas com o comprometimento linforreticular, esplenomegalia e infiltração da medula óssea. No segundo caso, a paciente apresentava mastocitose bolhosa acompanhada de sintomas gastrintestinais, cuja investigação mostrou infiltração de mastócitos na parede intestinal. A terceira paciente ilustra a manifestação cutânea precoce e extensa da mastocitose, com uma evolução dramática para choque e posterior óbito.Comentários: são discutidos aspectos clínicos, laboratoriais, tratamento e diagnóstico. AbstractObjective: mastocytosis comprises a group of diseases characterized by accumulation of mast cells on the skin, with the possibility of affecting other systems. Symptoms can be exclusively cutaneous, associated with symptoms of the organs involved or even systemic, due to the release of chemical mediators. Three cases of systemic mastocytosis are described, each case presenting different manifestations of the disorder.Description: the first report is about a patient with urticaria pigmentosa that presented persistent lesions until puberty when systemic manifestations initiated with lymphoreticular involvement, splenomegaly and bone marrow infiltration. In the second case, the child had bullous mastocytosis associated with gastrointestinal symptoms, whose investigation showed mast cell infiltration in the intestinal wall. The third patient presented an early and extensive cutaneous manifestation of mastocytosis, with a dramatic evolution to shock and posterior death.Discussion: clinical aspects, treatment and prognosis of such forms of the disease are discussed. IntroduçãoA mastocitose é uma doença caracterizada pelo acúmulo desordenado de mastócitos em vários órgãos, manifestandose através de um amplo espectro de alterações clínicas. A sua prevalência na população geral é difícil de determinar, pois muitos casos são autolimitados e/ou não diagnosticados, mas estima-se que na infância esteja próxima de 5,4 casos em cada 1.000 crianças atendidas em clínicas de dermatologia pediátrica 1 .A mastocitose é definida como sistêmica quando ocorre um aumento anormal dos mastócitos em diferentes locais, além da pele. Na infância, a doença é considerada, na maioria das vezes, uma condição benigna 2-5 , cuja apresentação característica é a cutânea: mastocitoma, urticária pigmentosa e mastocitose cutânea difusa 6 . O atrito ou escoriação das lesões causam urticação e eritema perilesional, caracte...

Mastocitose bolhosa na criança: relato de caso

“…15 Bullous cutaneous lesions can manifest and be present in all forms of mastocytosis; however, when this is the predominant presentation, it is called bullous mastocytosis (BM), with frequent systemic involvement. 4,10 Any organ may be affected, but the most commonly affected are bones (osteolytic lesions), spleen, liver (mast cell infiltration an fybrosis) and gastrointestinal tract. 15 Patients suffering from mastocytosis often have cardiovascular manifestations, such as flushing, hypotension, tachycardia, syncope and shock.…”

“…Such reactions are secondary to the effects of the mediators secreted by mast cells, by agents stimulating their degranulation, such as bacterial toxins, physical stimuli (heat, cold, sun light, friction), poisons (snakes, Hymenoptera), biological peptides (ascaris, jelly fish, lobster, wasp poison and bees), polymers (dextrane), acetylsalicylic acid, codein, morphin, polimixin B, quinine, radiographic contrasts, thiamine, isoproterenol, ephedrine, scopolamine, galamine, decamethonium and reserpine. 4,5,14 Patients under high risk of shock or sudden death are those with extensive bullous lesions, symptoms of vasodilation, flushing or hypotension, and those with a very early onset of the disease, i.e., still during the neonatal period. 11 Involvement of the gastrointestinal tract by mastocytosis is related in literature as a not-so-common event, but in BM, when there is systemic involvement, that of gastrointestinal tract is more common.…”

“…Photochemotherapy with psoralene and ultraviolet A is reported, 13,15 as is the use of interpheron associated or not with systemic steroids, for patients with systemic mastocytosis. 4,5 Topic glucocorticoids can be used for extensive PU or cutanoeus mastocytosis. cutaneous manifestations and of the risk associated with consequent symptoms, illustrating the clinical complexity that may come with the disease, hence the need for knowledge and prevention of agents that trigger release of mast cells mediators and of treatment and orientation of these patients.…”

“…Mastocytosis is a rare disease characterized by a disorderly mast cell accumulation is various organs, such as skin, bone marrow, liver, spleen, lymph nodes and gastrointestinal tract, manifesting through a wide range of clinical alterations. 1,2 Prevalence in general population is hard to determine, because many cases are self-limited and/or not diagnosed, 3,4 but it is estimated that each 1.000-8.000 patients is affected, 1,3,5 a proportion that, in childhood, is close to 5.4 cases out of 1000 children seen in dermatological pediatrics clinics. 6 The onset of manifestations of mastocytosis in over half of the patients is seen between birth and the second year of life, 4,8 displaying a certain preference for males.…”

“…1,2 Prevalence in general population is hard to determine, because many cases are self-limited and/or not diagnosed, 3,4 but it is estimated that each 1.000-8.000 patients is affected, 1,3,5 a proportion that, in childhood, is close to 5.4 cases out of 1000 children seen in dermatological pediatrics clinics. 6 The onset of manifestations of mastocytosis in over half of the patients is seen between birth and the second year of life, 4,8 displaying a certain preference for males. 7 The most common presentation is cutaneous, considered to be benign during childhood, with spontaneous involution in puberty.…”