小儿假性黄色瘤弹性组织变性伴心血管受累。
Paediatric pseudoxanthoma elasticum with cardiovascular involvement.
机构信息
Department of Dermatology and Cutaneous Biology, Jefferson Medical College and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, 233 South 10th Street, Suite 450 BLSB, Philadelphia, PA, 19107, U.S.A.
出版信息
Br J Dermatol. 2013 Nov;169(5):1148-51. doi: 10.1111/bjd.12462.
BACKGROUND
Pseudoxanthoma elasticum (PXE) is characterized by aberrant mineralization of connective tissues, causing considerable morbidity and mortality. The disease is typically of late onset, the skin manifestations first being noted in the teens or later. Another aberrant mineralization disorder, generalized arterial calcification of infancy (GACI), is present at birth and can demonstrate a phenotypic overlap with PXE.
OBJECTIVES
A patient with PXE was noted to have skin findings as early as at 6 years of age, with cardiovascular involvement. The purpose of this study was to examine the genetic basis of this phenotypic presentation in the spectrum of PXE/GACI.
METHODS
The patient's genotype was studied by sequencing ABCC6 and ENPP1, genes known to be associated with PXE and/or GACI.
RESULTS
Screening of the ABCC6 gene revealed two pathogenetic mutations, p.R1141X and g.del23-29. Analysis of the ENPP1 gene failed to demonstrate the presence of mutations.
CONCLUSIONS
This study demonstrates the presence of cutaneous findings of PXE in an 8-year-old paediatric patient, with cardiovascular involvement, illustrating the phenotypic spectrum of PXE.
背景
弹力纤维假黄瘤（PXE）的特征是结缔组织的异常矿化，导致相当高的发病率和死亡率。该疾病通常为迟发性，皮肤表现最早在青少年或以后才被注意到。另一种异常矿化疾病，婴儿期全身性动脉钙化（GACI），在出生时就存在，并且可能与 PXE 表现出表型重叠。
目的
我们发现一名患有 PXE 的患者早在 6 岁时就出现了皮肤表现，并伴有心血管受累。本研究的目的是研究 PXE/GACI 谱中这种表型表现的遗传基础。
方法
通过对 ABCC6 和 ENPP1 基因进行测序，对患者的基因型进行了研究，这两个基因已知与 PXE 和/或 GACI 相关。
结果
ABCC6 基因的筛查显示存在两个致病性突变，p.R1141X 和 g.del23-29。ENPP1 基因分析未能显示突变的存在。
结论
本研究证明了一名 8 岁儿科患者存在心血管受累的 PXE 皮肤表现，说明了 PXE 的表型谱。
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