PDF(Pubmed)
Abstract：
Pachyonychia congenita is a rare genetic disorder characterized by hypertrophic nail plates, hyperkeratotic nail beds, and thickened hyponychium of the fingers and toes, impairing manual dexterity and resulting in poor aesthetics. The current body of literature describes various treatment modalities, but no singular approach has been defined as the gold standard. In this case, the authors employed different surgical techniques for treating pachyonychia congenita to evaluate the most effective approach. A 3-year-old boy presented with hypertrophic nail growth involving all digits of both hands and feet. Three surgical procedures were performed on the patient\'s fingers and toes using germinal matrix excision (GME) alone, GME plus partial sterile matrix excision (pSME), or GME plus complete sterile matrix excision (cSME). The digits treated with GME + cSME exhibited no recurrence of nail growth. Those treated with GME alone exhibited recurrence of hypertrophic nail growth, although their growth slowed. Excision of GME + cSME prevented recurrence of hypertrophic nails, while GME alone or with pSME led to slower-growing hypertrophic nails. Complete excision of the germinal and sterile matrices with skin graft closure may be a definitive treatment for pachyonychia congenita, but further studies are needed to validate these findings.
摘要：
先天性甲癣是一种罕见的遗传性疾病，其特征是肥大的指甲板，过度角化甲床,手指和脚趾的甲膜增厚，损害手动灵活性并导致不良的美学。当前的文献描述了各种治疗方式，但没有单一的方法被定义为黄金标准。在这种情况下,作者采用不同的手术技术治疗先天性白甲，以评估最有效的方法。一个3岁的男孩表现出肥厚的指甲生长，涉及双手和脚的所有手指。仅使用生发基质切除术（GME）对患者的手指和脚趾进行了三种外科手术，GME加部分无菌基质切除术(pSME)，或GME加完全无菌基质切除（cSME）。用GME+cSME处理的手指没有表现出指甲生长的复发。单用GME治疗的患者表现出肥厚性指甲生长的复发，虽然增长放缓。切除GME+cSME可防止肥厚性指甲复发，而GME单独或与pSME一起导致生长缓慢的肥厚指甲。通过皮肤移植物闭合完全切除生发和无菌基质可能是先天性甲癣的最终治疗方法，但需要进一步的研究来验证这些发现.
