Pachyonychia congenita (PC) is an autosomal dominant genodermatosis caused by heterozygous mutations in any one of the genes encoding the differentiation-specific keratins K6a, K6b, K16, or K17. The main clinical features of the condition include painful and highly debilitating plantar keratoderma, hypertrophic nail dystrophy, oral leukokeratosis, and a variety of epidermal cysts. Although the ...

Dear Editor, Pachyonychia congenita (PC) is an ultra-rare hereditary skin disorder primarily characterized by severe, painful and highly debilitating plantar keratoderma, variable hypertrophic nail dystrophy, epidermal cysts, leukokeratosis and other features. PC is caused by heterozygous dominant-negative mutations in any one of five keratin genes, KRT6A, KRT6B, KRT6C, KRT16 or KRT17 (encoding...

Keratin 16 (KRT16 in human, Krt16 in mouse), a type I intermediate filament protein, is constitutively expressed in epithelial appendages and is induced in the epidermis upon wounding and other stressors. Mutations altering the coding sequence of KRT16 cause pachyonychia congenita (PC), a rare autosomal dominant disorder characterized by hypertrophic nail dystrophy, oral leukokeratosis, and pal...

Pachyonychia congenita (PC) is a rare keratinizing disorder characterized by painful palmoplantar keratoderma (PPK), thickened nails and blistering for which there are no standard current treatment. PC caused dominant mutations in keratin 6A, 6B, 6C, 16 17 genes involved stress, wound healing epidermal barrier formation. Mechanisms leading to pain PPK remain elusive. To gain further insight int...

introduction congenital microgastria is an extremely rare anomaly, which is due to failure of gastric development, and causes a tubular stomach with reduced capacity. it is almost always associated with other congenital anomalies. case presentation the patient was a two-month-old boy with microgastria in association with gastroesophageal reflux, tracheomalacia, and limb defect. discussion most ...