Pachyonychia congenita: a case report of a successful treatment with rosuvastatin in a patient with a KRT6A mutation.
Administration, Oral
Child
DNA Mutational Analysis
Female
Foot
Genetic Counseling
Humans
Keratin-6
/ genetics
Keratoderma, Palmoplantar
/ complications
Mutation
Pachyonychia Congenita
/ complications
Pain
/ diagnosis
Pain Measurement
Rosuvastatin Calcium
/ administration & dosage
Severity of Illness Index
Skin
/ drug effects
Treatment Outcome
Journal
The British journal of dermatology
ISSN: 1365-2133
Titre abrégé: Br J Dermatol
Pays: England
ID NLM: 0004041
Informations de publication
Date de publication:
09 2019
09 2019
Historique:
accepted:
18
09
2018
pubmed:
12
10
2018
medline:
3
10
2020
entrez:
12
10
2018
Statut:
ppublish
Résumé
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.
Substances chimiques
KRT6A protein, human
0
Keratin-6
0
Rosuvastatin Calcium
83MVU38M7Q
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
584-586Commentaires et corrections
Type : CommentIn
Informations de copyright
© 2018 British Association of Dermatologists.
Références
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