Pachyonychia congenita: a case report of a successful treatment with rosuvastatin in a patient with a KRT6A mutation

Abstract

Summary Pachyonychia congenita (PC) is a rare autosomal dominant disorder characterized by nail dystrophy and palmoplantar keratoderma with severe plantar pain affecting quality of life. There is no effective treatment. Heterozygous mutations in the keratin genes KRT6A, KRT6B, KRT6C, KRT16 and KRT17 have been reported as a cause of PC. Herein we present a female patient with an amino acid substitution mutation in KRT6A (c.1381G>A, p.Glu461Lys in exon 7) and classic features of PC associated with oral leucokeratosis and follicular hyperkeratosis. We also demonstrate successful treatment of the patient with rosuvastatin. A 3.6‐mm reduction in plantar callosity thickness was demonstrated by sonography. Our patient also experienced significant pain relief that allowed her to increase physical activity (Children's Dermatology Life Quality Index score dropped nine points following treatment). Collectively, these improvements suggest that rosuvastatin may offer a promising treatment for PC. What's already known about this topic? Pachyonychia congenita (PC) is an autosomal dominant disease characterized by nail dystrophy and painful plantar keratoderma. Keratolytics, emollients, retinoids and steroids have been used for treatment but with limited benefits. What does this study add? A patient with PC who had a KRT6A mutation was treated with rosuvastatin with significant improvement in plantar hyperkeratosis and pain. Statins could be a promising treatment for PC with long‐term safety, but further studies are needed.

Stopping pachyonychia congenita plantar pain with a statin?

“…The experience of physicians collaborating with the Pachyonychia Project in using statins in PC is mixed, with a few patients experiencing improvement in plantar pain and some experiencing no change . In this issue of the BJD , Abdollahimajd and colleagues from the Shahib Beheshti University of Medical Sciences in Iran, report a case study of an 8‐year‐old female patient with PC with a mutation in KRT6A treated with rosuvastatin 5 mg daily with a reduction in both plantar hyperkeratosis and pain . The patient was treated for 6 months with a nine‐point drop in Children's Dermatology Life Quality Index score and a reduction in hyperkeratosis and blistering.…”

Pathophysiology of pachyonychia congenita‐associated palmoplantar keratoderma: new insights into skin epithelial homeostasis and avenues for treatment

“…Oral retinoids successfully reduced callus thickness in some individuals with PC, but like rapamycin, adverse side‐effects including increased pain prevent oral retinoids from being a viable long‐term treatment for PC . Statins can also downregulate KRT6A expression, but so far only oral rosuvastatin has been shown to be effective in a single case of K6a‐based PC . Finally, injections of botulinum toxin (Botox) into plantar calluses improved plantar blistering and pain associated with PC–PPK lesions, but injections are costly and must be performed under anaesthesia.…”

Pain mechanisms in hereditary palmoplantar keratodermas

“…Some small studies have reported pain relief and improvement in quality of life in individuals who received off‐label treatment with rapamycin or statins . Consequently, the Food and Drug Administration recently granted fast‐track designation for a trial of high‐strength topical rapamycin to treat PC.…”