首例患有与少年性黄斑营养不良相关的少毛症的哥伦比亚患者。
The First Colombian Patient with -Related Hypotrichosis with Juvenile Macular Dystrophy.
作者信息
Prieto Luis Eduardo, Vasquez-Forero Diana Marcela, Pachajoa Harry
机构信息
Fundación Valle del Lili, Centro de Investigaciones Clínicas, Cali, Colombia.
Fundación Valle del Lili, Departamento de Genética Clínica, Cali, Colombia.
出版信息
Skin Appendage Disord. 2025 Mar 28:1-7. doi: 10.1159/000545293.
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 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 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 .
引言
外胚层发育异常（ED）涵盖了一大类遗传性疾病，根据所涉及的基因不同，各种外胚层衍生组织的结构和功能都可能受到影响。先天性少毛症伴青少年黄斑营养不良是ED所包含的病症之一，它与编码P-钙黏蛋白的基因改变有关。
病例报告
我们描述了一名6岁患者，有特应性皮炎、弱视和视力下降病史。体格检查发现头皮少毛，有斑秃，小颌后缩，牙釉质异常，皮肤干燥，毛发角化病。分子分析在基因（NM_001793.6）中鉴定出一个纯合变异c.1508G>A p.Arg503His。
结论
我们报告了哥伦比亚首例先天性少毛症伴青少年黄斑营养不良的临床和分子诊断病例，该病例与 相关。
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