Martin Ludovic, Maître Frédéric, Bonicel Pierre, Daudon Patrick, Verny Christophe, Bonneau Dominique, Le Saux Olivier, Chassaing Nicolas
Department of Dermatology, University of Angers, CHU d'Angers, 4 rue Larrey, F-49933 Angers CEDEX 9, France.
Arch Dermatol. 2008 Mar;144(3):301-6. doi: 10.1001/archderm.144.3.301.
To illustrate a phenotypic overlap consisting of usual, but limited, or atypical manifestations of pseudoxanthoma elasticum (PXE) between heterozygous carriers of a single ABCC6 mutation and patients diagnosed with PXE, carriers of homozygous or compound heterozygous mutations.
Evaluation for full and typical, incomplete, mild, or overlooked PXE during a 5-year period (2001-2005) based on the following 1992 expert consensus conference items: (1) yellowish papular skin eruption, (2) dermal elastorrhexis and mineralization of elastic fibers in lesional skin, and (3) angioid streaks. Testing for ABCC6 mutations was performed in all cases after informed consent.
French multidisciplinary outpatient clinic for patients with PXE.
Patients prospectively referred for PXE and first-degree relatives. Main Outcome Measure Prevalence of PXE with a limited or atypical phenotype and manifesting heterozygosity.
Ninety-four patients were diagnosed as having PXE. Fifty-eight relatives were also examined, and none displayed the characteristic signs of the disease. Despite the histoclinical items and ABCC6 genotyping, we were unable to establish a definite diagnosis in 5 additional referred cases, ie, to distinguish between PXE with a limited or atypical phenotype and heterozygosity with skin and/or ophthalmologic and/or cardiovascular manifestations suggestive of PXE.
We assume that all categories established at the 1992 consensus conference correspond to PXE, but that the 5 patients reported herein also have PXE. Homozygous, compound heterozygous, or heterozygous individuals may fulfill only some of the clinical and/or histopathologic consensus criteria of PXE. They cannot be placed into any category. Expressivity is highly variable in carriers of 1 or 2 ABCC6 mutations, and the disease manifestations overlap between both genotypes. Physicians should thus be more cautious with respect to the prognosis when faced with heterozygous relatives of a patient diagnosed with undisputable PXE. Indeed, heterozygotes may uncommonly experience severe ophthalmologic complications. Whether they may also have cardiovascular complications related to or worsened by PXE remains to be determined.
阐述在单个ABCC6突变的杂合子携带者与被诊断为弹性假黄瘤（PXE）的患者（纯合或复合杂合突变携带者）之间存在的由PXE常见但有限或非典型表现组成的表型重叠。
基于以下1992年专家共识会议项目，在5年期间（2001 - 2005年）对完全典型、不完全、轻度或被忽视的PXE进行评估：（1）淡黄色丘疹性皮肤疹；（2）病变皮肤中弹性纤维的真皮弹性纤维断裂和矿化；（3）血管样条纹。在所有病例获得知情同意后进行ABCC6突变检测。
法国针对PXE患者的多学科门诊。
前瞻性转诊的PXE患者及其一级亲属。主要观察指标具有有限或非典型表型且表现为杂合性的PXE患病率。
94例患者被诊断为患有PXE。还检查了58名亲属，他们均未表现出该疾病的特征性体征。尽管有组织临床项目和ABCC6基因分型，但在另外5例转诊病例中我们无法做出明确诊断，即无法区分具有有限或非典型表型的PXE与具有提示PXE的皮肤和/或眼科和/或心血管表现的杂合性。
我们假设1992年共识会议确定的所有类别均对应PXE，但本文报告的5例患者也患有PXE。纯合、复合杂合或杂合个体可能仅符合PXE的部分临床和/或组织病理学共识标准。他们无法被归入任何类别。1个或2个ABCC6突变携带者的表达高度可变，且两种基因型的疾病表现存在重叠。因此，当面对被诊断为无可争议的PXE患者的杂合亲属时，医生在预后方面应更加谨慎。实际上，杂合子可能罕见地出现严重的眼科并发症。他们是否也可能有与PXE相关或因PXE而恶化的心血管并发症仍有待确定。
