All Stories

  1. Multiple facets of desmoglein 1 mutations
  2. Inherited epidermolysis bullosa: New diagnostics and new clinical phenotypes
  3. Advances in understanding the molecular basis of skin fragility
  4. Natural history and clinical outcome of junctional epidermolysis bullosa generalized intermediate due to a LAMA3 mutation
  5. Acral lamellar Ichthyosis - expanding the phenotype of temperature-sensitive keratinization disorders
  6. Oral manifestations as the main feature of late-onset recessive dystrophic epidermolysis bullosa
  7. A case of mosaicism in ectodermal dysplasia-skin fragility syndrome
  8. Sixteen novel mutations in PNPLA1 in patients with autosomal recessive congenital ichthyosis reveal the importance of an extended patatin domain in PNPLA1 that is essential for proper human skin barrier function
  9. Mosaicism in the skin: lumping or splitting?
  10. Betulin-Based Oleogel to Improve Wound Healing in Dystrophic Epidermolysis Bullosa: A Prospective Controlled Proof-of-Concept Study
  11. Hemidesmosomes: how much plakins do they need?
  12. Palmoplantar keratodermas: clinical and genetic aspects
  13. ACOL7A1variant leading to in-frame skipping of exon 15 attenuates disease severity in recessive dystrophic epidermolysis bullosa
  14. Therapies for inherited skin fragility disorders
  15. Blaschko line acne on pre-existent hypomelanosis reflecting a mosaicFGFR2mutation
  16. ‘Double trouble’: diagnostic challenges in genetic skin disorders
  17. Loss of desmoglein 1 associated with palmoplantar keratoderma, dermatitis and multiple allergies
  18. FERMT1promoter mutations in patients with Kindler syndrome
  19. RhoA activation by CNFy restores cell-cell adhesion in kindlin-2-deficient keratinocytes
  20. Processing of the laminin-332 α chain: from bedside to bench
  21. Kindler syndrome with severe mucosal involvement in childhood