METHODS: We included all patients diagnosed with PXE and referred to Neurocutaneous Rare Diseases at Umberto I Polyclinic Hospital (Rome, Italy) between January 1983 and February 2024. A retrospective analysis of their data was performed.
RESULTS: We enrolled 86 patients (77.9% women), revealing compound heterozygosity in 19.8% of cases and homozygosity in 5.8%. Missense (34.9%), non-sense (5.8%), splice-site (5.8%), deletion (4.7%), and frameshift (2.3%) mutations were disclosed. Cutaneous alterations were noted in the neck (69.7%), axilla (33.7%), inguinal (17.5%), and cubital folds (11.7%). The most common ocular findings were angioid streaks (64.0%) and choroidal neovascularization (18.6%), with blindness reported in 5.8% of cases. Thicker intima-media was observed around the mid-fifties in the supra-aortic trunks (40.7%), lower limb arteries (32.6%), and renal arteries (4.7%). Regurgitation was more common in atrioventricular valves (48.8%) than in semilunar ones (10.5% and 9.3%). Dyslipidemia (19.8%), hypertension (18.8%), and fatty liver disease (12.8%) were prevalent, with calcifications found in the kidneys (25.6%), liver (15.1%), spleen (11.6%), and testicles (8.1% of males). Autoimmune diseases and depression were observed in 11.6% and 4.7% of cases, respectively.
CONCLUSIONS: Enhanced understanding of PXE can improve patients\' quality of life and facilitate the development of more effective therapeutic strategies.
方法:我们纳入了在UmbertoI综合诊所医院(罗马,意大利)在1983年1月至2024年2月之间。对他们的数据进行了回顾性分析。
结果:我们招募了86名患者(77.9%为女性),在19.8%的病例中揭示了复合杂合性,在5.8%的病例中揭示了纯合性。Missense(34.9%),无意义(5.8%),拼接位点(5.8%),删除(4.7%),并披露了移码(2.3%)突变。颈部皮肤改变(69.7%),腋窝(33.7%),腹股沟(17.5%),和肘部褶皱(11.7%)。最常见的眼部表现为血管样条纹(64.0%)和脉络膜新生血管(18.6%),报告有5.8%的病例失明。在主动脉上干的50年代中期左右观察到较厚的内膜-中膜(40.7%),下肢动脉(32.6%),和肾动脉(4.7%)。房室瓣反流(48.8%)比半月瓣反流(10.5%和9.3%)更常见。血脂异常(19.8%),高血压(18.8%),脂肪肝(12.8%)很普遍,在肾脏发现钙化(25.6%),肝脏(15.1%),脾脏(11.6%),和睾丸(男性的8.1%)。在11.6%和4.7%的病例中观察到自身免疫性疾病和抑郁症。分别。
结论:加强对PXE的了解可以改善患者的生活质量,促进更有效治疗策略的发展。