RESUMO
Systemic mastocytosis (SM) is characterized by pathologic expansion and activation of mast cells. The main clinical manifestations of SM include skin involvement, gastrointestinal symptoms and anaphylaxis due to the release of its mediators. Thirty percent of pat ients with SM have a low bone mass and 20% fractures. At the same time, SM affects 10% of male patients with idiopathic osteoporosis. Measuring serum tryptase is essential for the screening of MS. We report two cases of SM with bone involvement. A 25-year- old woman with prior diagnosis of SM, based on skin involvement, flushing, high serum tryptase and compatible bone marrow (BM) biopsy and genetic study. Low bone mass was diagnosed and treatment was started with calcium and vitamin D plus oral bisphosphona tes with adequate response. A 47 years old man who presented with multiple osteoporotic vertebral fractures and low bone mass. Treatment with vitamin D and alendronate was started, but the patient developed new vertebral fractures. The study was extended w ith measurement of serum tryptase that was elevated. Diagnosis of SM was confirmed with BM biopsy and the patient was referred to hematology for specific care. These cases emphasize the importance of bone assessment in SM, as well as the need to rule out S M in patients with osteoporosis and no evident cause.
Assuntos
Mastocitose Sistêmica/complicações , Osteoporose/etiologia , Adulto , Biópsia , Densitometria , Feminino , Fraturas Ósseas/etiologia , Humanos , Masculino , Mastocitose Sistêmica/patologia , Pessoa de Meia-Idade , Osteoporose/patologia , Fatores de Risco , Triptases/sangue , Urticaria Pigmentosa/etiologia , Urticaria Pigmentosa/patologiaRESUMO
Introducción La mastocitosis representa un grupo de enfermedades caracterizadas por una acumulación excesiva de mastocitos en uno o múltiples tejidos. Puede limitarse a la piel o tener un compromiso sistémico, siendo de baja prevalencia y pronóstico benigno en la infancia. Objetivo Reportar un caso de urticaria pigmentosa como subtipo de mastocitosis cutánea y hacer una revisión bibliográfica enfocada en los hallazgos clínicos, el diagnóstico y el manejo inicial básico. Caso clínico Lactante de 6 meses de edad con múltiples máculas y pápulas de color café claro localizadas en el tronco, los brazos y las piernas, cuadro compatible con una urticaria pigmentosa, confirmada mediante biopsia. Se solicitaron exámenes para descartar compromiso sistémico. La paciente fue tratada con medidas generales, educación y antihistamínicos, con excelente evolución. Conclusiones La mastocitosis cutánea es una enfermedad poco común, de buen pronóstico. En la infancia generalmente bastan las medidas generales y educación para obtener resultados favorables. La terapia farmacológica de primera línea son los antagonistas H1.
Introduction Mastocytosis represents a group of diseases characterised by an excesive accumulation of mastocytes in one or multiple tissues. It can affect only the skin, or have a systemic involvement. It has a low prevalence, and the prognosis is benign in children. Objective To report a case of urticaria pigmentosa as a subtype of cutaneous mastocytosis, and present a literature review focused on clinical findings, diagnosis and initial basic management. Clinical case A child of six months of age presenting with multiple blemishes and light brown papules located on the trunk, arms and legs. The symptoms were compatible with urticaria pigmentosa, and was confirmed by biopsy. Tests to rule out systemic involvement were requested. The patient was treated with general measures, education, and antihistamines, with favourable results. Conclusions Cutaneous mastocytosis is a rare disease with a good prognosis. In childhood general measures and education are usually enough to obtain favourable results. Histamine H1 antagonists are the first line drug treatment.
Assuntos
Humanos , Feminino , Lactente , Urticaria Pigmentosa/diagnóstico , Mastocitose Cutânea/diagnóstico , Prognóstico , Biópsia , Urticaria Pigmentosa/patologia , Urticaria Pigmentosa/terapia , Mastocitose Cutânea/patologia , Mastocitose Cutânea/terapia , Antagonistas dos Receptores Histamínicos H1/uso terapêuticoRESUMO
Systemic mastocytosis (SM) is characterized by pathologic expansion and activation of mast cells. The main clinical manifestations of SM include skin involvement, gastrointestinal symptoms and anaphylaxis due to the release of its mediators. Thirty percent of pat ients with SM have a low bone mass and 20% fractures. At the same time, SM affects 10% of male patients with idiopathic osteoporosis. Measuring serum tryptase is essential for the screening of MS. We report two cases of SM with bone involvement. A 25-year- old woman with prior diagnosis of SM, based on skin involvement, flushing, high serum tryptase and compatible bone marrow (BM) biopsy and genetic study. Low bone mass was diagnosed and treatment was started with calcium and vitamin D plus oral bisphosphona tes with adequate response. A 47 years old man who presented with multiple osteoporotic vertebral fractures and low bone mass. Treatment with vitamin D and alendronate was started, but the patient developed new vertebral fractures. The study was extended w ith measurement of serum tryptase that was elevated. Diagnosis of SM was confirmed with BM biopsy and the patient was referred to hematology for specific care. These cases emphasize the importance of bone assessment in SM, as well as the need to rule out S M in patients with osteoporosis and no evident cause.
Assuntos
Humanos , Masculino , Feminino , Adulto , Pessoa de Meia-Idade , Osteoporose/etiologia , Mastocitose Sistêmica/complicações , Osteoporose/patologia , Biópsia , Urticaria Pigmentosa/etiologia , Urticaria Pigmentosa/patologia , Fatores de Risco , Mastocitose Sistêmica/patologia , Densitometria , Fraturas Ósseas/etiologia , Triptases/sangueRESUMO
INTRODUCTION: Mastocytosis represents a group of diseases characterised by an excesive accumulation of mastocytes in one or multiple tissues. It can affect only the skin, or have a systemic involvement. It has a low prevalence, and the prognosis is benign in children. OBJECTIVE: To report a case of urticaria pigmentosa as a subtype of cutaneous mastocytosis, and present a literature review focused on clinical findings, diagnosis and initial basic management. CLINICAL CASE: A child of six months of age presenting with multiple blemishes and light brown papules located on the trunk, arms and legs. The symptoms were compatible with urticaria pigmentosa, and was confirmed by biopsy. Tests to rule out systemic involvement were requested. The patient was treated with general measures, education, and antihistamines, with favourable results. CONCLUSIONS: Cutaneous mastocytosis is a rare disease with a good prognosis. In childhood general measures and education are usually enough to obtain favourable results. Histamine H1 antagonists are the first line drug treatment.
Assuntos
Mastocitose Cutânea/diagnóstico , Urticaria Pigmentosa/diagnóstico , Biópsia , Feminino , Antagonistas dos Receptores Histamínicos H1/uso terapêutico , Humanos , Lactente , Mastocitose Cutânea/patologia , Mastocitose Cutânea/terapia , Prognóstico , Urticaria Pigmentosa/patologia , Urticaria Pigmentosa/terapiaRESUMO
Mastocytosis is a rare disease characterized by proliferation and accumulation of mast cells in various organs. The maculopapular cutaneus mastocytosis is divided into three subtypes: papular/plaque variant, urticaria pigmentosa and eruptive macular telangiectasia perstans. Dermoscopic may help to better characterize the different forms of cutaneus mastocytosis. We report a 55 year-old female with urticaria pigmentosa and its dermoscopy.
Mastocitose é uma doença rara caracterizada pela proliferação e acúmulo de mastócitos em vários órgãos. A mastocitose cutanea maculopapular divide-se em três subtipos: variante máculo-papular, urticária pigmentosa e telangiectasia macular eruptiva perstans. A dermatoscopia pode ajudar a caracterizar melhor as diferentes formas de mastocitose cutânea. Relatamos um caso de paciente feminina de 55 anos com urticária pigmentosa e sua dermatoscopia.
Assuntos
Feminino , Humanos , Pessoa de Meia-Idade , Dermoscopia , Doenças Raras/patologia , Urticaria Pigmentosa/patologia , Mastócitos/patologiaRESUMO
Mastocytosis is a rare disease characterized by proliferation and accumulation of mast cells in various organs. The maculopapular cutaneous mastocytosis is divided into three subtypes: papular/plaque variant, urticaria pigmentosa and eruptive macular telangiectasia perstans. Dermoscopic may help to better characterize the different forms of cutaneous mastocytosis. We report a 55 year-old female with urticaria pigmentosa and its dermoscopy.
Assuntos
Dermoscopia , Doenças Raras/patologia , Urticaria Pigmentosa/patologia , Feminino , Humanos , Mastócitos/patologia , Pessoa de Meia-IdadeRESUMO
The term urticaria pigmentosa (UP) denotes a heterogeneous group of disorders characterized by abnormal growth and accumulation of mast cells (MC) in the skin. Symptoms result from MC chemical mediator's release, pathologic infiltration of neoplastic MC in tissues or both. Multiple molecular, genetic and chromosomal defects seem contribute to an autonomous growth, but somatic c-kit D816V mutation is more frequently found, especially in systemic disease. The aim of this paper is to provide a current overview for a better understanding of the symptoms associated with this disease, to describe its classification, recent advances in its pathophysiology and its treatment.
Assuntos
Urticaria Pigmentosa , Corticosteroides/uso terapêutico , Adulto , Idade de Início , Criança , Pré-Escolar , Comorbidade , Diagnóstico Diferencial , Antagonistas dos Receptores Histamínicos/uso terapêutico , Humanos , Hipersensibilidade/epidemiologia , Lactente , Recém-Nascido , Mastócitos/metabolismo , Mastócitos/patologia , Mastocitose/classificação , Mutação de Sentido Incorreto , Mutação Puntual , Proteínas Proto-Oncogênicas c-kit/genética , Proteínas Proto-Oncogênicas c-kit/fisiologia , Fator de Células-Tronco/fisiologia , Urticaria Pigmentosa/diagnóstico , Urticaria Pigmentosa/tratamento farmacológico , Urticaria Pigmentosa/epidemiologia , Urticaria Pigmentosa/genética , Urticaria Pigmentosa/patologia , Urticaria Pigmentosa/fisiopatologiaRESUMO
Immunohistochemical staining is useful in the diagnosis of bone marrow infiltration in systemic mastocytosis. However, it is not clear if antibody staining may be helpful in the diagnosis of cutaneous mastocytosis (CM). We studied the histological appearance of CM in 35 pediatric patients. Cases were assigned to three basic clinical groups: I--Urticaria pigmentosa (UP, n=29); II--Mastocytomas (n=4); and III--Diffuse Cutaneous Mastocytosis (DCM, n=2). The analysis of clinical information revealed an association between the presence of diarrhea and a higher number of cells/field. Nine doubtful cases, all of them macules, were selected based on the scarcity of mast cells (MC) and the absence or rarity of other inflammatory cells. We compared the number of cells identified in Giemsa and immunohistochemical stains in definite and doubtful cases. The intraclass correlation statistic tested the concordance between each staining method. All 9 dubious cases according to the Giemsa stain had their CM diagnosis confirmed by the immunohistochemistry analysis. The intraclass correlation between Giemsa and c-kit was good (0.7) when the number of MC was high. However, there was no correlation between the mast cells counts in the two different stains in the dubious cases. The immunohistochemistry with c-kit might make CM diagnosis easier, especially in the macular cases, when there is a lower number of MC.