Vocca Cristina, Marcianò Gianmarco, Rania Vincenzo, Catarisano Luca, Palleria Caterina, Ciranni Salvatore, Torcia Giuseppina, Serra Raffaele, Monea Francesco, Spaziano Giuseppe, De Sarro Giovambattista, Citraro Rita, Gallelli Luca
Operative Unit of Pharmacology and Pharmacovigilance, "Renato Dulbecco University Hospital", Department of Health Science, University Magna Graecia, 88100 Catanzaro, Italy.
Vascular Surgery Unit, Department of Medical and Surgical Science, University Magna Graecia, 88100 Catanzaro, Italy.
Reports (MDPI). 2023 Jul 20;6(3):33. doi: 10.3390/reports6030033.
Klippel-Trenanauy syndrome (KTS) is a rare genetic disease determined by overexpression of the phosphatidylinositol-4-5-bisphosphate 3 kinase catalytic subunit (PIK3CA) gene. The clinical presentation is characterized by venous and capillary malformations and lymphatic malformation. To date, no definitive treatment has been suggested in order to improve the clinical symptoms related to the developments of a skin wound. In this case, we describe a young man with KTS that developed a severe skin wound in the lower right limb unresponsive to the common treatment but responsive to a treatment with oxygen-ozone therapy, pulsed magnetic fields (diamagnetic treatment), and topical fixed association of cocum caprylate, oleic acid, quercetin, and 18-β glycyrrhetinic acid. This is the first case that supports a multistep approach to treat a rare and severe disease, and we hope that other studies can support our data.
克-特综合征(KTS)是一种罕见的遗传性疾病,由磷脂酰肌醇-4,5-二磷酸3激酶催化亚基(PIK3CA)基因的过表达所决定。其临床表现以静脉和毛细血管畸形以及淋巴管畸形为特征。迄今为止,尚未提出明确的治疗方法来改善与皮肤伤口形成相关的临床症状。在此病例中,我们描述了一名患有KTS的年轻男性,其右下肢出现严重皮肤伤口,对常规治疗无反应,但对臭氧-氧气疗法、脉冲磁场(抗磁治疗)以及辛酸癸酯、油酸、槲皮素和18-β甘草次酸的局部固定组合治疗有反应。这是首例支持采用多步骤方法治疗罕见重症疾病的病例,我们希望其他研究能够支持我们的数据。