[Cutaneous Manifestations in Mastocytosis: Update]. / Manifestações Cutâneas nas Mastocitoses: Atualização.

INTRODUCTION: Mastocytosis is characterized by the clonal expansion of morphological and immunophenotypically abnormal mast cells in different organs. The skin is the most frequently affected tissue. Virtually all children and more than 80% of adult patients with mastocytosis show cutaneous lesions. MATERIAL AND METHODS: The present article describes the symptoms and signs in cutaneous mastocytosis, based on the review of recently published international consensus guidelines. DISCUSSION: According to the 2016 World Health Organization classification, mastocytosis can be divided in cutaneous mastocytosis, systemic mastocytosis and mast cell sarcoma. Cutaneous mastocytosis is subclassified in three subtypes: maculopapular cutaneous mastocytosis, diffuse cutaneous mastocytosis and cutaneous astocytoma. Telangiectasia macularis eruptiva perstans is no longer considered a distinct entity. CONCLUSION: Based on the age of onset, cutaneous manifestations of mastocytosis can be variable. The classification of cutaneous mastocytosis has recently been updated. Typically, in patients with childhood-onset mastocytosis, the disease occurs as cutaneous mastocytosis and shows spontaneous resolution around puberty. In contrast, adult patients, despite having also cutaneous lesions, often show systemic involvement and the course of the disease is usually chronic.

Introdução: As mastocitoses caraterizam-se pela expansão clonal de mastócitos, com acumulação de mastócitos morfológica e imunofenotipicamente anormais em diferentes órgãos. A pele é o órgão mais frequentemente envolvido. Virtualmente, todas as crianças e mais de 80% dos adultos com mastocitose apresentam lesões cutâneas.Material e Métodos: O presente artigo descreve os sinais e sintomas associados à mastocitose na pele, tendo por base a revisão das normas de orientação de consenso internacionais, recentemente publicadas.Discussão: De acordo com a classificação proposta pela Organização Mundial de Saúde em 2016, a mastocitose divide-se em mastocitose cutânea, mastocitose sistémica e sarcoma de mastócitos. A mastocitose cutânea pode subdividir-se em três subtipos: a mastocitose cutânea maculopapular (também denominada urticária pigmentosa), mastocitose cutânea difusa e mastocitoma cutâneo. A telangiectasia macular eruptiva perstans já não é considerada uma entidade independente.Conclusão: As manifestações cutâneas da mastocitose são variáveis, dependendo da idade de início da doença. Recentemente a classificação da mastocitose cutânea foi atualizada. Nas crianças, a mastocitose ocorre como mastocitose cutânea que tende à regressão espontânea durante a adolescência. Quando tem início na idade adulta, a mastocitose é geralmente sistémica, sendo a forma mais frequente a mastocitose sistémica indolente, que normalmente também cursa com manifestações cutâneas e tem um curso crónico.

Clinical and prognostic analysis of 183 cases of pediatric cutaneous mastocytosis / 中华皮肤科杂志

Objective To characterize clinical features and prognosis of pediatric cutaneous mastocytosis. Methods Clinical data on 183 cases of pediatric cutaneous mastocytosis were collected and retrospectively analyzed. Some patients were followed up. Results Of the 183 patients, 136 (74.3%)had urticaria pigmentosa, 43 (23.5%) mastocytoma, 4 (2.2%)diffuse mastocytosis. The first attack of mastocytosis occurred at birth in 21 (48.8%)patients with mastocytoma and 35(25.7%)patients with urticaria pigmentosa, within 6 months after birth in 17(39.5%)patients with mastocytoma and 78(57.3%)patients with urticaria pigmentosa, and within 2 years after birth in 179(97.8%)out of the 183 patients. Of 33 patients with detailed description of symptoms, 10 had concomitant symptoms, which were flushing in 9 patients. Forty-five patients were followed up for 3 - 6 years (average, 4 years). The follow-up showed that skin lesions completely regressed in 1 patient with urticaria pigmentosa at 11 years of age, partially regressed in 18 patients. Lesions regressed completely at 8 years of age in 1 patient with mastocytoma, and subsided within 1 year after skin biopsy in 7 patients. Oral antihistamines could control the symptoms of mastocytosis, such as flushing, whealing and blistering, and oral glucocorticoids could effectively control the recurrence of generalized blisters and bullae in patients with diffuse mastocytosis. Conclusions Urticaria pigmentosa appears to be the most common type of cutaneous mastocytosis in children, followed by mastocytoma. Mastocytoma occurs most frequently at birth, while urticaria pigmentosa within 6 months after birth. Oral antihistamines may control inflammatory mediator-related symptoms. Serious diffuse mastocytosis may be controlled by systemic glucocorticoids.

Adult mastocytosis: a review of the Santo António Hospital 's experience and an evaluation of World Health Organization criteria for the diagnosis of systemic disease

BACKGROUND: Mastocytosis is a clonal disorder characterized by the accumulation of abnormal mast cells in the skin and/or in extracutaneous organs. OBJECTIVES: To present all cases of mastocytosis seen in the Porto Hospital Center and evaluate the performance of World Health Organization diagnostic criteria for systemic disease. METHODS: The cases of twenty-four adult patients with mastocytosis were reviewed. Their clinical and laboratorial characteristics were assessed, and the properties of the criteria used to diagnose systemic mastocytosis were evaluated. RESULTS: The age of disease onset ranged from 2 to 75 years. Twenty-three patients had cutaneous involvement and 75% were referred by dermatologists. Urticaria pigmentosa was the most common manifestation of the disease. One patient with severe systemic mast cell mediator-related symptoms showed the activating V560G KIT mutation. The bone marrow was examined in 79% of patients, and mast cell immunophenotyping was performed in 67% of the participants. Systemic disease was detected in 84% of cases, and 81% of the sample had elevated serum tryptase levels. All the diagnostic criteria for systemic mastocytosis had high specificity and positive predictive value. Bone marrow biopsy had the lowest sensitivity, negative predictive value and efficiency, while the highest such values were observed for mast cell immunophenotyping. Patients were treated with regimens including antihistamines, sodium cromoglycate, alpha-interferon, hydroxyurea and phototherapy. CONCLUSIONS: Cutaneous involvement is often seen in adult mastocytosis patients, with most individuals presenting with indolent systemic disease. Although serum tryptase levels are a good indicator of mast cell burden, bone marrow biopsy should also be performed in patients with normal serum tryptase, with flow cytometry being the most adequate method to diagnose systemic disease. .

Diffuse cutaneous mastocytosis: a case report and mutation analysis of the KIT gene / 中华皮肤科杂志

Objective To analyze KIT gene mutations in one patient with diffuse cutaneous mastocytosis (DCM),and to provide a basis for the prediction of prognosis and selection of treatment.Methods Clinical data were collected from a boy with DCM.Peripheral blood samples were obtained from the patient,his parents and 200 unrelated healthy human controls.PCR was performed to amplify 21 coding exons and their flanking sequences of the KIT gene followed by DNA sequencing.Results A heterozygous missense mutation (c.1526A ＞ T),which leads to the mutation p.Lys509Ile,was detected in the KIT gene of the patient,but not in his parents or the healthy controls.Conclusion The heterozygous missense mutation p.Lys509Ile in the KIT gene may be a cause of DCM.

Dermatoscopic findings of urticaria pigmentosa / Achados dermatoscopicos na urticaria pigmentosa

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.

Mastocitose / Mastocytosis

A mastocitose é caracterizada pelo acúmulo patológico e ativação de mastócitos nos tecidos e órgãos. Embora a classificação da mastocitose e seus critérios diagnósticos sejam bem aceitos, há necessidade de estabelecer parâmetros para aplicação de testes diagnósticos, avaliação clínica e respostas aos tratamentos. O objetivo deste trabalho é fazer uma revisão extensa da literatura, oferecendo conhecimento global sobre os mecanismos etiopatológicos e isiopatológicos, dando especial ênfase à diagnose, classificação e tratamento da mastocitose, promovendo a educação médica continuada.

Mastocytosis is characterized by pathologic accumulation and activation of mast cells in tissues and organs. Although the classification for mastocytosis and diagnostic criteria are well accepted, there remains a need to define standards for the application of diagnostic tests, clinical evaluations, and responses to treatment. The objective of this article was to make an extensive literature review, providing comprehensive knowledge about the etiopathological and pathophysiological mechanisms, with a special emphasis on diagnosis, classification and treatment of mastocytosis, promoting continued medical education.