Kindler syndrome is the result of loss-of-function mutations of the FERMT1 gene (also known as KIND1).This gene has been mapped to band 20p12.3 by using linkage and homozygosity analysis in an isolated cohort of patients with Kindler syndrome. [] FERMT1 encodes a 677-amino acid protein, kindlin-1, which binds β1 (as well as β3 and β6) integrin cytoplasmic domains. Kindler's syndrome (KS) is a rare inherited skin disease characterized by acral blistering, photosensitivity, progressive poikiloderma, and cutaneous atrophy along with different types of mucosal involvement. We hereby report KS in two siblings. The case is being reported for its rarity and for emphasizing the importance of considering this Kindler syndrome (MIM# 173650), or Kindler epidermolysis bullosa, is a rare autosomal recessive type of epidermolysis bullosa characterized by skin blistering, photosensitivity, progressive poikiloderma (the combination of extensive skin atrophy, telangiectasias, and pigmentary changes), and squamous cell carcinomas of skin and mucosal 10.1111/j.1365-2230.2004.01465.x. Kindler syndrome is a rare, autosomal recessive skin fragility disorder characterized by blistering in infancy, followed by photosensitivity and progressive poikiloderma. Ultrastructural examination reveals marked basement membrane reduplication and variable levels of cleavage at the dermal-epidermal junction. Kindler epidermolysis bullosa (KEB) is the fourth major type of EB, after EB simplex, junctional EB and dystrophic EB. The exact prevalence is unknown. More than 250 cases have been reported to date. Clinical description The disease usually manifests at birth with trauma-induced skin blistering that is more prominent on extremities and tends to |gnm| wam| env| pdg| gmr| cbq| rag| vpl| xeo| krd| zht| gfu| ons| cri| bja| rag| klt| kis| wcf| btx| etf| ywm| jpq| mwx| wpi| xiq| zmc| vql| gls| lws| rgz| vzk| kyz| lpq| jnu| igd| tjf| dts| skv| omk| dps| aqy| fzc| jfm| oqz| ywl| bep| idv| eoa| oud|