An appraisal of oral retinoids in the treatment of pachyonychia congenita

Robert Gruber, Michael Edlinger, Roger L. Kaspar, C. David Hansen, Sancy Leachman, Leonard M. Milstone, Frances J D Smith, Alexis Sidoroff, Peter O. Fritsch, Matthias Schmuth

Research output: Contribution to journalArticle

20 Citations (Scopus)

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 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.

Original languageEnglish (US)
JournalJournal of the American Academy of Dermatology
Volume66
Issue number6
DOIs
StatePublished - Jun 2012
Externally publishedYes

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Pachyonychia Congenita
Retinoids
Keratins
Therapeutics
Cross-Sectional Studies
Pain Measurement
Nails
Confidence Intervals
Mutation

Keywords

  • keratins
  • keratoderma
  • oral retinoids
  • pachyonychia congenita

ASJC Scopus subject areas

  • Dermatology

Cite this

An appraisal of oral retinoids in the treatment of pachyonychia congenita. / Gruber, Robert; Edlinger, Michael; Kaspar, Roger L.; Hansen, C. David; Leachman, Sancy; Milstone, Leonard M.; Smith, Frances J D; Sidoroff, Alexis; Fritsch, Peter O.; Schmuth, Matthias.

In: Journal of the American Academy of Dermatology, Vol. 66, No. 6, 06.2012.

Research output: Contribution to journalArticle

Gruber, R, Edlinger, M, Kaspar, RL, Hansen, CD, Leachman, S, Milstone, LM, Smith, FJD, Sidoroff, A, Fritsch, PO & Schmuth, M 2012, 'An appraisal of oral retinoids in the treatment of pachyonychia congenita', Journal of the American Academy of Dermatology, vol. 66, no. 6. https://doi.org/10.1016/j.jaad.2011.02.003
Gruber, Robert ; Edlinger, Michael ; Kaspar, Roger L. ; Hansen, C. David ; Leachman, Sancy ; Milstone, Leonard M. ; Smith, Frances J D ; Sidoroff, Alexis ; Fritsch, Peter O. ; Schmuth, Matthias. / An appraisal of oral retinoids in the treatment of pachyonychia congenita. In: Journal of the American Academy of Dermatology. 2012 ; Vol. 66, No. 6.
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