Sosa Gabriela Alejandra, Dogliani Patricia, Guidi Andrés Emilio, Marangoni Marco Antonio, Lavarda Marcelo, Fainstein-Day Patricia
Médica especialista en Endocrinología y Medicina Interna. Servicio de Endocrinología Sanatorio Allende, Córdoba.
Profesor Titular de la Cátedra de Anatomía Patológica y Fisiopatología de la Facultad de Medicina de la Universidad Católica de Córdoba. Servicio de Anatomía Patológica Sanatorio Allende, Córdoba.
Rev Fac Cien Med Univ Nac Cordoba. 2021 Dec 28;78(4):398-401. doi: 10.31053/1853.0605.v78.n4.30852.
Erdheim-Chester Disease (ECD) is a rare form of histiocytosis, characterized by xanthogranulomatous infiltration of multiple organs by lipid-laden histiocytes. It is considered a myeloid inflammatory clonal disorder that mainly affects men with a mean age of 55 years.
We present the case of a 65-year-old man who consulted our Endocrinology Unit because of polyuria and polydipsia of 4 months of evolution, diagnosing central diabetes insipidus associated with pituitary infiltration. Physical examination showed skin lesions he has had for several years, that were papules-nodules in the anterior chest and xantelasma-like in the face and neck, with biopsy compatible with non-Langerhans histiocytosis. The genetic study of the skin biopsy showed the presence of a mutation in MAP2K1, confirming the ECD.
The patient started treatment with interferon alfa, but the response was incomplete and associated with severe intolerance, so given the findings of the genetic study, we decided to indicate treatment with cobimetinib, a potent and selective inhibitor of MEK. After 8 months of treatment, skin lesions have disappeared, as has the pituitary infiltration, with a remarkable improvement in his quality of life.
We present a 65-year-old patient with a rare form of histiocytosis (ECD) who in turn presented an atypical form of ECD and, where the genetic study allowed us to confirm the diagnosis and use targeted therapy with cobimetinib with outstanding results.
厄尔海姆-切斯特病（ECD）是一种罕见的组织细胞增多症，其特征是富含脂质的组织细胞对多个器官进行黄瘤肉芽肿性浸润。它被认为是一种主要影响平均年龄为55岁男性的髓系炎性克隆性疾病。
我们报告了一名65岁男性的病例，他因4个月病程的多尿和烦渴前来我们的内分泌科就诊，被诊断为与垂体浸润相关的中枢性尿崩症。体格检查发现他有多年的皮肤病变，前胸为丘疹结节，面部和颈部为睑黄瘤样，活检结果与非朗格汉斯组织细胞增多症相符。皮肤活检的基因研究显示存在MAP2K1突变，证实为ECD。
患者开始使用干扰素α治疗，但反应不完全且伴有严重不耐受，因此鉴于基因研究结果，我们决定使用考比替尼治疗，考比替尼是一种强效且选择性的MEK抑制剂。治疗8个月后，皮肤病变消失，垂体浸润也消失，患者生活质量有显著改善。
我们报告了一名65岁患有罕见组织细胞增多症（ECD）的患者，该患者呈现出非典型的ECD形式，基因研究使我们能够确诊并使用考比替尼进行靶向治疗，取得了出色的效果。
