Kindler syndrome with severe mucosal involvement in childhood

Clinical and Experimental Dermatology

Volumn 39, Issue 3, 2014, Pages 340-343

  Krishna, C V ^a   Parmar, N V ^a   Has, C ^b  

^a PONDICHERRY INSTITUTE OF MEDICAL SCIENCES   (India)

^b UNIVERSITY OF FREIBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ANAL CANAL; ANAL CANAL STENOSIS; ARTICLE; BLISTER; CASE REPORT; CHEILITIS; CHILD; CHILDHOOD DISEASE; COLON STENOSIS; CONSANGUINEOUS MARRIAGE; DENTAL CARIES; DYSURIA; EROSION; FEMALE; FERMT1 GENE; GENE; GENE MUTATION; GENETIC ANALYSIS; HETEROZYGOTE; HOMOZYGOSITY; HUMAN; LABIAL AGGLUTINATION; MEDICAL HISTORY; MOUTH DISEASE; MOUTH MUCOSA; NUCLEAR MAGNETIC RESONANCE IMAGING; PERIODONTITIS; PHOTOSENSITIVITY; PHYSICAL EXAMINATION; POIKILODERMA; PRIORITY JOURNAL; SCHOOL CHILD; SKIN PIGMENTATION; URETHRA STENOSIS; UROGENITAL TRACT DISEASE; EPIDERMOLYSIS BULLOSA; MUCOSA; PATHOLOGY; PHOTOSENSITIVITY DISORDER; FAMILY HISTORY; GYNECOLOGICAL EXAMINATION; INDIAN; LOWER LIP; MOUTH EXAMINATION; PATHOGENESIS; SKIN ATROPHY; SKIN EXAMINATION; URODYNAMICS; VAGINA DISEASE;

CHILD; EPIDERMOLYSIS BULLOSA; FEMALE; FEMALE UROGENITAL DISEASES; HUMANS; MOUTH DISEASES; MUCOUS MEMBRANE; PHOTOSENSITIVITY DISORDERS;

DNA; FERMITIN FAMILY HOMOLOG 1; PROTEIN; UNCLASSIFIED DRUG;

EID: 84898989113     PISSN: 03076938     EISSN: 13652230     Source Type: Journal    
DOI: 10.1111/ced.12293     Document Type: Article

References (10)

1. Kindler T,. Congenital poikiloderma with traumatic bulla formation and progressive cutaneous atrophy. Br J Dermatol 1954; 66: 104-11.
2. Wiebe CB, Petricca G, Häkkinen L, et al,. Kindler syndrome and periodontal disease: review of the literature and a 12-year follow-up case. J Periodontol 2008; 79: 961-6.
3. Carrington PR, Horn TD,. Cheilitis glandularis: a clinical marker for both malignancy and/or severe inflammatory disease of the oral cavity. J Am Acad Dermatol 2006; 54: 336-7. (Pubitemid 43144411)
4. Velander MH, Mikkelsen DB, Bygum A,. Labial agglutination in a prepubertal girl: effect of topical oestrogen. Acta Derm Venereol 2009; 89: 198-9.
5. Mansur AT, Elcioglu NH, Aydingöz IE, et al,. Novel and recurrent KIND1 mutations in two patients with KS and severe mucosal involvement. Acta Derm Venereol 2007; 87: 563-5. (Pubitemid 351373413)
6. Has C, Yordanova I, Balbanova M, et al,. A novel large FERMT1 (KIND1) gene deletion in Kindler syndrome. J Dermatol Sci 2008; 52: 209-12.
7. Hayashi S, Shimoya K, Itami S, et al,. Pregnancy and delivery with Kindler syndrome. Gynecol Obstet Invest 2007; 64: 72-4. (Pubitemid 47294461)
8. Jobard F, Bouadjar B, Caux F, et al,. Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome. Hum Mol Genet 2003; 12: 925-35. (Pubitemid 36504035)
9. Siegel DH, Ashton GH, Penagos HG, et al,. Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome. Am J Hum Genet 2003; 73: 174-87. (Pubitemid 36793789)
10. Leiden Open Variation Database. Mendelian Genes. Fermitin family homolog 1. Available at: https://grenada.lumc.nl/LOVD2/mendelian-genes/variants.php? action=n=search-unique&select-db=FERMT1 (accessed September 29, 2013).