Scrutinising the role of simvastatin in a patient of Pachyonychia Congenita with KRT6A gene mutation.

Abstract excerpt

A 25-year-old male patient presented with palmoplantar keratoderma, dystrophic nails, severe plantar pain and oral leukokeratosis since birth. On genetic analysis, a heterozygous KRT6A gene missense mutation (c.1381G > A, p.Glu461Lys in exon 7) was identified by next-generation sequencing technology, consistent with pachyonychia congenita 6a. Oral simvastatin 40 mg was started once daily, and after 16 weeks of...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Hydroxymethylglutaryl-CoA Reductase Inhibitors
• Share to Kelch-Like ECH-Associated Protein 1