PDF(Pubmed)
Abstract：
Mastocytosis is a heterogeneous disease characterized by the expansion and accumulation of neoplastic mast cells in various tissues. Diffuse cutaneous mastocytosis (DCM) is a rare and most severe form of cutaneous mastocytosis, which typically occurs in childhood. There have been reports of a familial DCM with specific gene mutations, indicating both sporadic and hereditary factors involved in its pathogenesis. DCM is associated with severe MC mediator-related symptoms and an increased risk of anaphylaxis. The diagnosis is based on the appearance of skin lesions, which typically show generalized thickening, erythroderma, blistering dermographism, and a positive Darier\'s sign. Recognition, particularly in infants, is challenging due to DCMs resemblance to other bullous skin disorders. Therefore, in unclear cases, a skin biopsy is crucial. Treatment focuses on symptom management, mainly including antihistamines and mast cell stabilizers. In extremely severe cases, systemic steroids, tyrosine kinase inhibitors, phototherapy, or omalizumab may be considered. Patients should be equipped with an adrenaline autoinjector. Herein, we conducted a comprehensive review of literature data on DCM since 1962, which could help to better understand both the management and prognosis of DCM, which depends on the severity of skin lesions, intensity of mediator-related symptoms, presence of anaphylaxis, and treatment response.
摘要：
肥大细胞增多是一种异质性疾病，其特征是肿瘤肥大细胞在各种组织中的扩增和积累。弥漫性皮肤肥大细胞增多症（DCM）是一种罕见且最严重的皮肤肥大细胞增多症，这通常发生在童年。有报道称家族性DCM具有特定的基因突变，表明其发病机制涉及散发和遗传因素。DCM与严重的MC介质相关症状和过敏反应风险增加有关。诊断是基于皮肤损伤的外观，通常表现出广泛性增厚，红皮病,起泡的皮肤病学，和一个积极的达里尔的标志。认可,特别是在婴儿中，由于DCMs与其他大疱性皮肤病相似，因此具有挑战性。因此,在不清楚的情况下，皮肤活检至关重要。治疗侧重于症状管理，主要包括抗组胺药和肥大细胞稳定剂。在极其严重的情况下，全身性类固醇,酪氨酸激酶抑制剂，光疗,或奥马珠单抗可以考虑。患者应配备肾上腺素自动注射器。在这里，我们对1962年以来有关DCM的文献数据进行了全面回顾，这有助于更好地了解DCM的治疗和预后。这取决于皮肤损伤的严重程度，介质相关症状的强度，过敏反应的存在，和治疗反应。
