title: Kindler's syndrome: a report of five cases in a family.
abstract: Kindler's Syndrome (KS) is a rare genodermatosis with autosomal recessive mode of inheritance. The disease results from homozygous mutations on both alleles of the FERMT-1 gene (also known as KIND-1 gene) that encodes the protein Kindlin-1 (kindlerin). Clinical features include a constellation of early infantile skin blistering and mild photosensitivity, which improves with age, and progressive poikiloderma with widespread cutaneous atrophy. The differential diagnosis of Kindler syndrome include other congenital poikilodermatous and photosensitive conditions including Bloom syndrome, Cockayne syndrome, dyskeratosis congenita, epidermolysis bullosa, Rothmund-Thomson syndrome and xeroderma pigmentosum. We herein, report the presence of the Kindler's syndrome in 5 out of 7 children of consanguineous parents. To authors' knowledge, this is the first report of Kindler's syndrome involving 5 members of a family.
authors.affiliation: Department of Dermatology, PNS Shifa, Karachi.
authors.forename: Muhammad Irfan
authors.initials: MI
authors.lastname: Anwar
authors.affiliation: Department of Dermatology, PNS Shifa, Karachi.
authors.forename: Ajmal
authors.initials: A
authors.lastname: Rashid
authors.affiliation: Department of Dermatology, PNS Shifa, Karachi.
authors.forename: Rabia
authors.initials: R
authors.lastname: Ghafoor
authors.affiliation: Department of Dermatology, PNS Shifa, Karachi.
authors.forename: Moizza
authors.initials: M
authors.lastname: Tahir
authors.affiliation: Department of Dermatology, PNS Shifa, Karachi.
authors.forename: Sibghat Ullah
authors.initials: SU
authors.lastname: Rao
authors.affiliation: Department of Dermatology, PNS Shifa, Karachi.
authors.forename: Farhan
authors.initials: F
authors.lastname: Mir
mesh_terms: D001768:Blister / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics; D003241:Consanguinity; D003937:Diagnosis, Differential; D004820:Epidermolysis Bullosa / Q000175:diagnosis* / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D010510:Periodontal Diseases / Q000175:diagnosis* / Q000235:genetics*; D010787:Photosensitivity Disorders / Q000175:diagnosis* / Q000235:genetics*; D011038:Rothmund-Thomson Syndrome / Q000175:diagnosis / Q000235:genetics; D035781:Siblings