Luis Eduardo Prieto, Diana Marcela Vasquez-Forero, Harry Pachajoa
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引用次数: 0
摘要
外胚层发育不良（ED）包括一组广泛的遗传性疾病，其中各种外胚层来源的组织的结构和功能都可能受到影响，这取决于所涉及的基因。先天性毛少症伴幼年黄斑营养不良是ED的一种症状，与编码p -钙粘蛋白的CDH3基因的改变有关。病例介绍：我们描述了一位6岁的患者，有特应性皮炎、弱视和视力下降的病史。体格检查发现头皮毛少伴秃斑、微颌后缩、牙釉质异常、皮肤干燥、毛毛角化症。分子分析鉴定出CDH3基因（NM_001793.6） c.1508G> a . arg503his的纯合变异。结论：我们提出了哥伦比亚首例与CDH3相关的毛少症伴幼年黄斑营养不良的临床和分子诊断病例。
The First Colombian Patient with CDH3-Related Hypotrichosis with Juvenile Macular Dystrophy.
Introduction: Ectodermal dysplasias (ED) encompass a broad group of hereditary disorders, within which both the structure and functionality of various ectoderm-derived tissues can be affected depending on the involved gene. Congenital hypotrichosis with juvenile macular dystrophy is one of the entities included in ED, which is associated with an alteration in the CDH3 gene encoding P-cadherin.
Case presentation: We describe a 6-year-old patient with history of atopic dermatitis, amblyopia, and reduced vision acuity. Physical examination revealed hypotrichosis on the scalp with alopecia patches, microretrognathia, dental enamel abnormalities, dry skin, keratosis pilaris. Molecular analysis identified a homozygous variant in the CDH3 gene (NM_001793.6) c.1508G>A p.Arg503His.
Conclusion: We present the first Colombian case of clinical and molecular diagnosis of hypotrichosis with juvenile macular dystrophy associated with CDH3.
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