Department of Dermatology, Innsbruck Medical University, Innsbruck, Austria.
J Am Acad Dermatol. 2012 Jun;66(6):e193-9. doi: 10.1016/j.jaad.2011.02.003. Epub 2011 May 24.
Pachyonychia congenita (PC), a rare autosomal-dominant keratin disorder caused by mutations in keratin genes KRT6A/B, KRT16, or KRT17, is characterized by painful plantar keratoderma and hypertrophic nail dystrophy. Available studies assessing oral retinoid treatment for PC are limited to a few case reports.
We sought to assess overall effectiveness, adverse effects, and patient perspective in patients with PC receiving oral retinoids.
In a questionnaire-based retrospective cross-sectional survey of 30 patient with PC assessing oral retinoids (10-50 mg/d for 1-240 months), we determined the clinical score, satisfaction score, visual analog pain scale, and adverse effects.
In 50% of patients there was thinning of hyperkeratoses (average improvement 1.6 on a scale from -3 to +3) (95% confidence interval 1.2-1.9, P < .001). In all, 14% observed amelioration of their pachyonychia; 79% did not experience any nail change. The self-reported overall satisfaction score with oral retinoid treatment was 2 or greater in 50% of the patients (mean 4.5 on a scale of 1-10). Although 33% reported decreased and 27% increased plantar pain with treatment, 40% did not notice any pain change. All patients experienced adverse effects, and 83% reported to have discontinued medication. Risk/benefit analysis favored lower retinoid doses (≤25 mg/d) over a longer time period (>5 months), compared with higher doses (>25 mg/d) for a shorter time (≤5 months).
The retrospective, cross-sectional study design is prone to a recall bias.
Oral retinoids are effective in some patients with PC. However, many patients discontinued medication because adverse effects outweighed the benefits. Careful dose titration is warranted in patients informed about potential adverse effects.
先天性厚甲症（PC）是一种罕见的常染色体显性遗传性角蛋白疾病，由角蛋白基因 KRT6A/B、KRT16 或 KRT17 的突变引起，其特征为疼痛性足底角化过度和肥厚性指甲营养不良。现有的评估口服维 A 酸治疗 PC 的研究仅限于少数病例报告。
我们旨在评估接受口服维 A 酸治疗的 PC 患者的总体疗效、不良反应和患者观点。
通过对 30 例接受口服维 A 酸治疗（10-50 mg/d，1-240 个月）的 PC 患者进行基于问卷调查的回顾性横断面调查，我们确定了临床评分、满意度评分、视觉模拟疼痛量表和不良反应。
在 50%的患者中，过度角化症变薄（平均改善 1.6，评分范围为-3 至+3）（95%置信区间 1.2-1.9，P<.001）。在所有患者中，有 14%观察到他们的先天性厚甲症有所改善；79%的患者指甲没有任何变化。50%的患者对口服维 A 酸治疗的总体满意度评分为 2 或更高（1-10 分的平均分 4.5）。尽管 33%的患者报告治疗后足底疼痛减轻，27%的患者报告疼痛加重，但 40%的患者没有注意到任何疼痛变化。所有患者均出现不良反应，83%的患者停止了用药。风险/效益分析表明，与高剂量（>25 mg/d）短期（≤5 个月）治疗相比，低剂量（≤25 mg/d）长期（>5 个月）治疗更有利。
回顾性、横断面研究设计容易出现回忆偏倚。
口服维 A 酸对一些 PC 患者有效。然而，许多患者因不良反应大于疗效而停止用药。在告知患者潜在不良反应的情况下，需要仔细滴定剂量。
