Abstract：
BACKGROUND: Pseudoxanthoma elasticum (PXE) is a rare genetic autosomal recessive metabolic disease characterized by progressive mineralization and fragmentation of elastic fibers from soft connective tissues. The objective of our study was to analyze the epidemiological, genetic, cutaneous, and extracutaneous clinical data from the largest Italian monocentric cohort of PXE patients.
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.
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.
摘要：
背景：弹性假性黄瘤（PXE）是一种罕见的遗传常染色体隐性代谢疾病，其特征是软结缔组织中弹性纤维的进行性矿化和碎片化。我们研究的目的是分析流行病学，遗传,皮肤,和来自意大利最大的单中心PXE患者队列的皮外临床数据。
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。
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。
