INSIGHTS THROUGH TRANSLATIONAL SCIENCE

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

Commentary or Editorial available

Article first published online: 02 Nov 2018
DOI: 10.1111/bjd.17276

Comment on this article

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.

Read moreRead more (PDF)

Supporting Information

FilenameDescription
bjd17276-sup-0001-PowerpointS1.pptxPowerpoint S1 Journal Club Slide Set.

Share this article

0

Favourite

Comments

If you want to submit a letter for publication rather than comment on an article please submit through Scholar One: https://mc.manuscriptcentral.com/bjd

There are no comments for this article yet.

Recent Tweets

@BrJDermatol

20 Oct 2019

A randomized, double-blind placebo-controlled study found that ASN002, an oral, dual Janus kinase and spleen tyrosine kinase inhibitor, had promising efficacy and safety profile for patients with moderate-to-severe atopic dermatitis. https://t.co/9CCBbbM8HV #AD #clinicaltrial https://t.co/x1ueJO8Cny

@BrJDermatol

19 Oct 2019

52F w/ numerous nonpruritic erythematous to brownish annular plaques that gradually expanded centrifugally & coalesced into polycyclic & reticulate appearance w/ partial central atrophy & elevated borders on sun‐exposed areas. What's your Dx? https://t.co/86xi2tenD5 #dermtwitter https://t.co/ZW1DFlJhpG

@BrJDermatol

19 Oct 2019

Skin fibrosis (scarring) remains challenging to assess. This study looks at the utility of using high frequency ultrasound and optical coherence tomography to provide a numerical score of skin fibrosis during the course of wound healing. https://t.co/c5UyZrZrjk #ultrasound #OCT https://t.co/pmBQhGNpcj

@BrJDermatol

18 Oct 2019

This population-based study of over 160,000 participants found that seborrheic dermatitis is a common disease (3.2% of study population) that is more prevalent in men and older individuals. https://t.co/lr5QwCd5J8 #seborrhea #dermatology #epidemiology https://t.co/6M49ovPUed

@BrJDermatol

18 Oct 2019

RT Skin Science Foundation @SkinScienceFDN: In @BrJDermatol: Measuring #clinician#machine agreement in differential #diagnoses for #dermatology: https://t.co/7P8JZ8bDhc

@BrJDermatol

18 Oct 2019

RT Dominique du Crest @ducrest: Management of psoriasis as a systemic disease: what is the evidence? https://t.co/Q8HsEMILgn via @BrJDermatol Biological treatment may prevent or reverse inflammatory damage associated with psoriasis comorbidities. #dermatology #dermatologia #PsoriasisAwareness

Close