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.
Background: Kawasaki disease (KD) is the most important cause of ischemic heart disease in children. Its pathogenesis is not well understood, but geographic, ethnic and familial pattern of this syndrome is reported. Ischemic heart disease (IHD) in parents can be the result of KD in their children. This is a study on the prevalence of IHD in parents of children with severe and non-severe Kawasaki disease. Objectives: The current study aimed to estimate the prevalence of IHD in the families of children with KD. Patients and Methods: Sixty-one children with Kawasaki disease were admitted from December 21, 2004 to January 21, 2008to Mofid Children Hospital (from one month to thirteen-year old) and 50 patients entered the study. Subjects were divided into the severe (24subjects) and non-severe (26 subjects) groups. All of the parents were called for investigation. Data were analyzed by SPSS ver. 21 software.
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