Background: Pachyonychia congenita (PC) is a rare keratinization disorder with around 1,000-10,000 cases reported worldwide. The mutation involves: KRT6A, KRT6B, KRTC6C, KRT16 or KRT17. Patients present severe plantar pain, palmoplantar keratoderma underlying blisters, and variable hypertrophic nail dystrophy [1]. Visual Analogue Scale (VAS) measures pain intensity. VAS consists of two endpoint...

Background: Duchenne muscular dystrophy (DMD) is a severe, progressive X-linked recessive neuromuscular disorder characterized by muscle weakness and atrophy. Additionally, patients with DMD have significant reductions in bone mineral density compared to age-matched controls, which exacerbated concomitant steroid use. These findings dramatically increase fracture risk, may irreparably decrease ...

Background: The nails of hands and feet are involved in the course of many dermatoses and some systemic diseases. They may have diagnostic or prognostic value in some diseases. Objective: The aim of this study was to evaluate nail lesions in patients referred to Dermatology Department of Sina Hospital in Hamadan from April 1999 to April 2000. Patients and Methods: This cross-sectional des...

Background: Pachyonychia congenita (PC) comprises a group of rare autosomal dominant genetic disorders. It is characterized by hypertrophic nail dystrophy, focal palmoplantar keratoderma, follicular keratosis, and oral leukokeratosis. associated with mutations in five differentiationspecific keratin genes: KRT6A, KRT6B, KRT6C, KRT16, or KRT17. The case being reported for its rarity. To the best...

The term 'keratin' is generally accepted to refer to the epithelial keratins of soft and hard epithelial tissues such as: skin, cornea, hair and nail. Since their initial characterization, the total number of mammalian keratins has increased to 54, including 28 type I and 26 type II keratins. Inherited defects that weaken the keratin load-bearing cytoskeleton produce phenotypes characterized by...