In this child, a biopsy specimen showed slight orthokeratotic hyperkeratosis and atrophy. Ultrastructural examination revealed a normal-appearing epidermis, with marked duplication of the basal lamina, with branching and folding that could be traced deep below the basement membrane zone. Immunofluorescence mapping of the basement membrane detected a significantly thickened type VII collagen band, especially on the papillary dermis. The other stains (α6 integrin, β4 integrin, laminin 5, and type IV collagen) did not show alterations. C-terminal antifermitin family homologue 1 antibody, also known as anti–kindlin-1 antibody, was not available. Immunofluorescence microscopy labeling using antifermitin family homologue 1 antibody shows an absent or reduced fluorescence compared with control skin in most patients with Kindler syndrome.6 In DNA analysis from a peripheral blood sample, homozygous mutation p.R271X in the FERMT1 gene, also known as KIND1, was detected. The FERMT1 gene is located on the short arm of chromosome 20 (20p12.3) and is the protein fermitin family homologue 1, a 77.3-kDa phosphoprotein that is a component of focal contacts in basal keratinocytes.6- 7 Fermitin family homologue 1 links the actin cytoskeleton to the extracellular matrix and is supposed to have cell-signaling functions due to different domains.5 Therefore, Kindler syndrome is the first known genodermatosis caused by a defect in actin-extracellular matrix linkage rather than the classic keratin-extracellular matrix linkage underlying the pathology of other epidermolysis bullosa types.