Cutaneous features of pseudoxanthoma elasticum in a patient with generalized arterial calcification of infancy due to a homozygous missense mutation in the ENPP1 gene.
Cutaneous features of pseudoxanthoma elasticum in a patient with generalized arterial calcification of infancy due to a homozygous missense mutation in the ENPP1 gene.
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DOI：
10.1111/j.1365-2133.2012.10811.x
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发表时间：
2012-05
期刊：
影响因子：
--
通讯作者：
Uitto J
中科院分区：
文献类型：
--
作者：
Li Q;Schumacher W;Jablonski D;Siegel D;Uitto J
弹性假性黄瘤（PXE）表现为皮肤病变，包括黄色丘疹合并成无弹性皮肤斑块。组织病理学显示多形性弹性结构的积累，并伴有进行性矿化。PXE的典型形式是由ABCC6基因突变引起的。一名2岁的颈部、腹股沟褶皱和下腹部PXE患者，并伴有广泛的组织矿化，我们评估了已知参与异位矿化疾病的候选基因的潜在突变。通过测序ABCC6、MGP和ENPP1基因来研究患者的基因型，这些基因编码在异位矿化障碍中携带突变的蛋白质。ABCC6和MGP基因未发现致病突变。ENPP1的测序揭示了一个纯合子错义突变p.Y513C，与婴儿期全身性动脉钙化有关。本研究证实了PXE在一种遗传上不同的疾病中存在皮肤特征，即婴儿期全身性动脉钙化，从而扩大了PXE相关疾病的范围。
Pseudoxanthoma elasticum (PXE) manifests with cutaneous lesions consisting of yellowish papules coalescing into plaques of inelastic skin. Histopathology demonstrates accumulation of pleiomorphic elastic structures with progressive mineralization. The classic form of PXE is caused by mutations in the ABCC6 gene. A 2-year old patient with PXE of the neck, inguinal folds and lower abdomen, and with extensive tissue mineralization was evaluated for the underlying mutations in candidate genes known to be involved in ectopic mineralization disorders. The patient’s genotype was studied by sequencing ABCC6, MGP and ENPP1 genes, encoding proteins which harbor mutations in ectopic mineralization disorders. No pathogenetic mutations were found in the ABCC6 or MGP genes. Sequencing of ENPP1 disclosed a homozygous missense mutation, p.Y513C, associated with generalized arterial calcification of infancy. This study demonstrates the presence of the cutaneous features of PXE in a genetically distinct disease, generalized arterial calcification of infancy, and thus expands the spectrum of PXE-related disorders.
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影响因子：
7.7
作者：
Stolerman ES;Manning AK;McAteer JB;Dupuis J;Fox CS;Cupples LA;Meigs JB;Florez JC
通讯作者：
Florez JC
家族性肿瘤钙化：从稀有表型的表征到异位钙化的发病机理。
DOI：
10.1038/jid.2009.337
发表时间：
2010-03
期刊：
The Journal of investigative dermatology
影响因子：
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作者：
通讯作者：
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影响因子：
6.5
作者：
Vanakker, Olivier M.;Martin, Ludovic;De Paepe, Anne
通讯作者：
De Paepe, Anne
影响因子：
13.8
作者：
Baccarani-Contri, M;Bacchelli, B;Pasquali-Ronchetti, I
通讯作者：
Pasquali-Ronchetti, I
DOI：
10.1038/jid.2009.411
发表时间：
2010-03
期刊：
The Journal of investigative dermatology
影响因子：
--
作者：
通讯作者：
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