PDF(Pubmed)
Abstract：
UNASSIGNED: Focal dermal hypoplasia (FDH) is a genodermatosis also known as Goltz-Gorlin syndrome caused by pathogenic variants in the PORCN gene and inherited in an X-linked dominant manner. Given the course of X-linked dominant inheritance, affected males can only survive in the state of mosaicism for a PORCN pathogenic variant or in the presence of XXY karyotype. FDH is a multisystemic disorder in which cutaneous, ocular, and skeletal systems are primarily affected. Patients also may display intellectual disability and central nervous system abnormalities, yet most may have normal mental development.
UNASSIGNED: We report on a currently 11-year-old female patient with a novel missense heterozygous PORCN variant who exhibited classical ectodermal, skeletal, and ocular findings in addition to mild intellectual disability, left-side diaphragm eventration, and puberty precox, a finding yet unreported in the literature.
UNASSIGNED: With this report, we aimed to expand the mutational spectrum and give insight into the importance of neurologic and skeletal system evaluation among other clinical features of FDH. Although gastrointestinal and genitourinary problems can occur during the course of the disease, to our knowledge, left-side diaphragm eventration and puberty precox are new features that have not been reported previously.
UNASSIGNED: We report on a currently 11-year-old female patient with a novel missense heterozygous PORCN variant who exhibited classical ectodermal, skeletal, and ocular findings in addition to mild intellectual disability, left-side diaphragm eventration, and puberty precox, a finding yet unreported in the literature.
UNASSIGNED: With this report, we aimed to expand the mutational spectrum and give insight into the importance of neurologic and skeletal system evaluation among other clinical features of FDH. Although gastrointestinal and genitourinary problems can occur during the course of the disease, to our knowledge, left-side diaphragm eventration and puberty precox are new features that have not been reported previously.
摘要：
■局灶性真皮发育不全（FDH）是一种遗传性皮肤病，也称为Goltz-Gorlin综合征，由PORCN基因的致病变异引起，并以X连锁显性方式遗传。考虑到X连锁显性遗传的过程，受影响的雄性只能在PORCN致病性变体的镶嵌状态或存在XXY核型的情况下生存。FDH是一种多系统疾病，其中皮肤，眼,骨骼系统主要受到影响。患者还可能表现出智力障碍和中枢神经系统异常，然而，大多数人可能有正常的智力发育。
■我们报道了一名目前为11岁的女性患者，患有一种新型错义杂合PORCN变体，表现出经典的外胚层，骨骼，除了轻度的智力残疾，左侧膈肌外移,和青春期前考克斯，在文献中尚未报道的发现。
■有了这份报告，我们旨在扩大突变谱,并深入了解神经和骨骼系统评估在FDH其他临床特征中的重要性.尽管在疾病过程中可能会出现胃肠道和泌尿生殖系统问题，根据我们的知识，左侧膈肌膨出和青春期前是以前没有报道的新特征。
■我们报道了一名目前为11岁的女性患者，患有一种新型错义杂合PORCN变体，表现出经典的外胚层，骨骼，除了轻度的智力残疾，左侧膈肌外移,和青春期前考克斯，在文献中尚未报道的发现。
■有了这份报告，我们旨在扩大突变谱,并深入了解神经和骨骼系统评估在FDH其他临床特征中的重要性.尽管在疾病过程中可能会出现胃肠道和泌尿生殖系统问题，根据我们的知识，左侧膈肌膨出和青春期前是以前没有报道的新特征。
