title: Kindler syndrome with severe mucosal involvement in childhood.
abstract: Kindler syndrome (KS) is an inherited dermatosis linked to the FERMT1 gene, and is characterized clinically by trauma-induced acral skin blisters in infancy and childhood, photosensitivity, and progressive poikiloderma. We report a case of KS in a 7-year-old Indian girl with severe mucosal involvement of the oral cavity and genitourinary tract. Mutation analysis in the girl showed a homozygous FERMT1 mutation, c.862C>T, p.R288*. The clinical manifestations in patients with KS show significant inter individual variation, even with the same type of mutations and within members of the same family. Our case highlights the role of environmental modifiers in regulating the clinical features of KS.
authors.affiliation: Department of Dermatology, Venereology and Leprology, Pondicherry Institute of Medical Sciences, Puducherry, India.
authors.forename: C V
authors.initials: CV
authors.lastname: Krishna
authors.forename: N V
authors.initials: NV
authors.lastname: Parmar
authors.forename: C
authors.initials: C
authors.lastname: Has
mesh_terms: D002648:Child; D004820:Epidermolysis Bullosa / Q000473:pathology*; D005260:Female; D052776:Female Urogenital Diseases / Q000473:pathology*; D006801:Humans; D009059:Mouth Diseases / Q000473:pathology*; D009092:Mucous Membrane / Q000473:pathology*; D010787:Photosensitivity Disorders / Q000473:pathology