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Journal of the American Academy of Dermatology
Volume 66, n° 6
pages e193-e199 (juin 2012)
Doi : 10.1016/j.jaad.2011.02.003
accepted : 1 February 2011
JAAD Online

An appraisal of oral retinoids in the treatment of pachyonychia congenita
 

Robert Gruber, MD a, Michael Edlinger, MSc b, Roger L. Kaspar, PhD c, C. David Hansen, MD d, Sancy Leachman, MD, PhD d, Leonard M. Milstone, MD e, Frances J.D. Smith, PhD f, Alexis Sidoroff, MD a, Peter O. Fritsch, MD a, Matthias Schmuth, MD a,
a Department of Dermatology, Innsbruck Medical University, Innsbruck, Austria 
b Department of Medical Statistics, Informatics and Health Economics, Innsbruck Medical University, Innsbruck, Austria 
c TransDerm Inc, Santa Cruz, California 
d Department of Dermatology, University of Utah, Salt Lake City, Utah 
e Department of Dermatology, Yale University School of Medicine, New Haven, Connecticut 
f College of Life Science, University of Dundee, Dundee, United Kingdom 

Reprint requests: Matthias Schmuth, MD, Department of Dermatology, Innsbruck Medical University, Anichstr. 35, 6020 Innsbruck, Austria.
Abstract
Background

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.

Objective

We sought to assess overall effectiveness, adverse effects, and patient perspective in patients with PC receiving oral retinoids.

Methods

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.

Results

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).

Limitations

The retrospective, cross-sectional study design is prone to a recall bias.

Conclusion

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.

The full text of this article is available in PDF format.

Key words : keratins, keratoderma, oral retinoids, pachyonychia congenita



 Supported in part by the International Pachyonychia Congenita Research Registry–Pachyonychia Congenita Project.
 Conflicts of interest: None declared.



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