Vergara-de-la-Campa Laura, Torrado Inés, Recuero-Pradillo María, Torrelo Antonio, Gironella Mercedes, Pardal Emilia, Godoy Ana Cristina, Matito Almudena, Pérez-Hortet Cristina, Mollejo Manuela, Álvarez-Twöse Iván
Dermatology Department, Complejo Hospitalario de Toledo, Toledo, Spain.
Spanish Reference Center of Mastocytosis, Instituto de Estudios de Mastocitosis de Castilla-La Mancha (CLMast), Hospital Virgen del Valle, Complejo Hospitalario de Toledo, Toledo, Spain.
J Dermatol. 2021 May;48(5):657-660. doi: 10.1111/1346-8138.15734. Epub 2021 Mar 8.
Mastocytosis is a heterogeneous group of diseases characterized by abnormal proliferation of neoplastic mast cells in the skin and/or other extracutaneous tissues. Most patients with skin involvement can be subclassified into one of the three subtypes of cutaneous mastocytosis currently recognized by the World Health Organization (i.e., mastocytoma, maculopapular cutaneous mastocytosis and diffuse cutaneous mastocytosis); however, some patients may occasionally present with atypical skin lesions that cannot be ascribed to any of these disease subtypes. Here, we report three patients diagnosed with mastocytosis and an unusual cutaneous involvement mimicking Kaposi's sarcoma. Skin biopsies showed neoplastic mast cell infiltrates together with features commonly seen in acroangiodermatitis, and immunohistochemistry for human herpesvirus 8 was negative. One patient fulfilled the criteria for aggressive systemic mastocytosis, showed no response to cytoreductive therapy, and died because of disease progression. The remaining two patients had indolent and smoldering systemic mastocytosis, respectively, but they showed several features associated with an unfavorable prognosis such as extensive involvement of the hematopoiesis by the KIT D816V mutation, increased serum β2-microglobulin, and decreased serum lactate dehydrogenase. The presence of pseudo-Kaposi's sarcoma skin lesions is an uncommon finding in mastocytosis which may alert physicians to the possible existence of underlying features indicative of a poor prognosis.
肥大细胞增多症是一组异质性疾病，其特征为皮肤和/或其他皮肤外组织中肿瘤性肥大细胞异常增殖。大多数有皮肤受累的患者可被归类为世界卫生组织目前认可的皮肤肥大细胞增多症的三种亚型之一（即肥大细胞瘤、斑丘疹性皮肤肥大细胞增多症和弥漫性皮肤肥大细胞增多症）；然而，一些患者偶尔可能出现非典型皮肤病变，无法归因于这些疾病亚型中的任何一种。在此，我们报告3例诊断为肥大细胞增多症且有类似卡波西肉瘤的不寻常皮肤受累情况的患者。皮肤活检显示肿瘤性肥大细胞浸润以及肢端血管性皮炎常见的特征，人疱疹病毒8免疫组化检测为阴性。1例患者符合侵袭性系统性肥大细胞增多症的标准，对减瘤治疗无反应，因疾病进展死亡。其余2例患者分别患有惰性和冒烟型系统性肥大细胞增多症，但他们表现出一些与预后不良相关的特征，如KIT D816V突变广泛累及造血系统、血清β2-微球蛋白升高和血清乳酸脱氢酶降低。假性卡波西肉瘤皮肤病变在肥大细胞增多症中是一种罕见的表现，这可能提醒医生注意可能存在提示预后不良的潜在特征。
