Kindler syndrome with severe mucosal involvement in childhood
作者： C. V. Krishna , N. V. Parmar , C. Has
DOI: 10.1111/CED.12293
关键词:
摘要: Kindler syndrome (KS) is an inherited dermatosis linked to the FERMT1 gene, and characterized clinically by trauma-induced acral skin blisters in infancy childhood, photosensitivity, progressive poikiloderma. We report a case of KS 7-year-old Indian girl with severe mucosal involvement oral cavity genitourinary tract. Mutation analysis showed homozygous mutation, c.862C>T, p.R288*. The clinical manifestations patients show significant inter individual variation, even same type mutations within members family. Our highlights role environmental modifiers regulating features KS.
sci-hub.se 参考文章(9)
Colin B. Wiebe, Giorgio Petricca, Lari Häkkinen, Guoqiao Jiang, Chuanyue Wu, Hannu S. Larjava, Kindler Syndrome and Periodontal Disease: Review of the Literature and a 12-Year Follow-Up Case Journal of Periodontology. ,vol. 79, pp. 961- 966 ,(2008) , 10.1902/JOP.2008.070167
AT Mansur, NH Elcioglu, IE Aydıngöz, AD Akkaya, ZA Serdar, C Herz, L Bruckner-Tuderman, C Has, Novel and recurrent KIND1 mutations in two patients with Kindler syndrome and severe mucosal involvement. Acta Dermato-venereologica. ,vol. 87, pp. 563- 565 ,(2007) , 10.2340/00015555-0314
Patrick R. Carrington, Thomas D. Horn, Cheilitis glandularis: A clinical marker for both malignancy and/or severe inflammatory disease of the oral cavity Journal of the American Academy of Dermatology. ,vol. 54, pp. 336- 337 ,(2006) , 10.1016/J.JAAD.2005.06.030
THERESA KINDLER, CONGENITAL POIKILODERMA WITH TRAUMATIC BULLA FOKMATION AND PROGRESSIVE CUTANEOUS ATROPHY. British Journal of Dermatology. ,vol. 66, pp. 104- 111 ,(1954) , 10.1111/J.1365-2133.1954.TB12598.X
Dawn H. Siegel, Gabrielle H.S. Ashton, Homero G. Penagos, James V. Lee, Heidi S. Feiler, Kirk C. Wilhelmsen, Andrew P. South, Frances J.D. Smith, Alan R. Prescott, Vesarat Wessagowit, Noritaka Oyama, Masashi Akiyama, Daifullah Al Aboud, Khalid Al Aboud, Ahmad Al Githami, Khalid Al Hawsawi, Abla Al Ismaily, Raouf Al-Suwaid, David J. Atherton, Ruggero Caputo, Jo-David Fine, Ilona J. Frieden, Elaine Fuchs, Richard M. Haber, Takashi Harada, Yasuo Kitajima, Susan B. Mallory, Hideoki Ogawa, Sedef Sahin, Hiroshi Shimizu, Yasushi Suga, Gianluca Tadini, Kikuo Tsuchiya, Colin B. Wiebe, Fenella Wojnarowska, Adel B. Zaghloul, Takahiro Hamada, Rajeev Mallipeddi, Robin A.J. Eady, W.H. Irwin McLean, John A. McGrath, Ervin H. Epstein, Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome American Journal of Human Genetics. ,vol. 73, pp. 174- 187 ,(2003) , 10.1086/376609
Shusaku Hayashi, Koichiro Shimoya, Satoshi Itami, Yuji Murata, Pregnancy and delivery with Kindler syndrome. Gynecologic and Obstetric Investigation. ,vol. 64, pp. 72- 74 ,(2007) , 10.1159/000099328
Cristina Has, Ivelina Yordanova, Maria Balabanova, Jana Kazandjieva, Corinna Herz, Jürgen Kohlhase, Leena Bruckner-Tuderman, A novel large FERMT1 (KIND1) gene deletion in Kindler syndrome. Journal of Dermatological Science. ,vol. 52, pp. 209- 212 ,(2008) , 10.1016/J.JDERMSCI.2008.07.007
Florence Jobard, Bakar Bouadjar, Frédéric Caux, Smail Hadj-Rabia, Christina Has, Fumi Matsuda, Jean Weissenbach, Mark Lathrop, Jean-François Prud'homme, Judith Fischer, Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome Human Molecular Genetics. ,vol. 12, pp. 925- 935 ,(2003) , 10.1093/HMG/DDG097
Anette Bygum, Dorthe Bisgaard Mikkelsen, Marie Hjerrild Velander, Labial agglutination in a prepubertal girl: effect of topical oestrogen. Acta Dermato-venereologica. ,vol. 89, pp. 198- 199 ,(2009) , 10.2340/00015555-0586