Coelho I, et al. BMJ Case Rep 2017. doi:10.1136/bcr-2017-222475 Description A 26-year-old woman, previously healthy, that a month ago started complaining of pain in the soles of both feet, which followed, additionally, to the right knee, the left knee, left elbow and right shoulder. She reported morning stiffness exceeding 1 hour that decreased with physical activity, worsened with rest, but im...

BACKGROUND K1 and K2 are the main type II keratins in the suprabasal epidermis where each of them heterodimerizes with the type I keratin K10 to form intermediate filaments. In regions of the ears, tail, and soles of the mouse, only K2 is co-expressed with K10, suggesting that these keratins suffice to form a mechanically resilient cytoskeleton. OBJECTIVE To determine the effects of the suppr...

836 © 2007 The Authors JEADV 2007, 21, 822–849 Journal compilation © 2007 European Academy of Dermatology and Venereology 5 Hesse S, Berbis P, Privat Y. Keratoderma palmoplantaris papulosa (Bushcke–Fischer’s disease): efficacy of acitretin. Br J Dermatol 1993; 128: 104–105. 6 Horikoshi M, Kuroda K, Tajima S. Puncate palmoplantar keratoderma with pigmentary lesions on the dorsa of feet and ankle...

Abstract Epidermolysis bullosa simplex (EBS) is a heterogeneous, congenital, mucocutaneous fragility syndrome, characterized ultrastructurally by cleavage within the basal keratinocyte. Seventy-five per cent of cases are attributable to mutations in KRT5 and KRT14, vast majority which dominant negative mutations, resulting impaired keratin intermediate filament dynamics layer epidermis. The pre...

A 5-year-old caucasian boy, born of non-consanguineous parents, was referred to the dermatology department due palmar hiperlinearity and multiple 2-3 mm hyperkeratotic circular lesions in soles (Fig. 1). The remaining physical examination unremarkable. There a family history palmoplantar hyperkeratosis mother maternal grandfather. To spare child, punch skin biopsy taken from his mother. Patholo...

Gap junctions, which mediate rapid intercellular communication, consist of connexins, small transmembrane proteins that belong to a large family of proteins found throughout the species. Mutations in the GJB2 gene, encoding Connexin 26, can cause nonsyndromic autosomal recessive or dominant hearing loss with or without skin manifestations. A 3-yr-old Korean female and her mother presented to ou...