Retrospective diagnosis of Kindler syndrome in a 37-year-old man

Clinical and Experimental Dermatology

Volumn 31, Issue 1, 2006, Pages 45-47

  Thomson, M A ^a   Ashton, G H S ^b   McGrath, J A ^b   Eady, R A J ^b   Moss, C ^a  

^a BIRMINGHAM CHILDREN S HOSPITAL   (United Kingdom)

^b ST THOMAS HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

C20ORF42 PROTEIN, HUMAN; MEMBRANE PROTEIN; TUMOR PROTEIN;

ADULT; ARTICLE; ATROPHY; BLISTER; CASE REPORT; FAMILY HEALTH; FEMALE; GENETICS; HUMAN; MALE; MUTATION; NEWBORN; PATHOLOGY; PEDIGREE; PIGMENT DISORDER; SKIN; SYNDROME;

ADULT; ATROPHY; BLISTER; FAMILY HEALTH; FEMALE; HUMANS; INFANT, NEWBORN; MALE; MEMBRANE PROTEINS; MUTATION; NEOPLASM PROTEINS; PEDIGREE; PIGMENTATION DISORDERS; SKIN; SYNDROME;

EID: 33646085800     PISSN: 03076938     EISSN: 13652230     Source Type: Journal    
DOI: 10.1111/j.1365-2230.2005.01930.x     Document Type: Article

References (7)

1. Kindler T. Congenital poikiloderma with traumatic bulla formation and progressive cutaneous atrophy. Br J Dermatol 1954; 66: 104-11.
2. Weary PE, Manley WF, Graham GF. Hereditary acrokera-totic poikiloderma. Arch Derm 1971; 103: 409-22.
3. Forman AB, Prendville JS, Esterly NB et al. Kindler syndrome: report of two cases and review of the literature. Pediatr Dermatol 1989; 6: 91-101.
4. 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.
5. Siegel DH, Ashton GHS, 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.
6. Has C, Bruckner-Tuderman L. A novel nonsense mutation in Kindler syndrome. J Invest Dermatol 2004; 122: 84-6.
7. Ashton GHS, McLean WHI, South AP et al. Recurrent mutations in kindlin-1, a novel keratinocyte focal contact protein, in the autosomal recessive skin fragility and pho-tosensitivity disorder, Kindler syndrome. J Invest Dermatol 2004; 122: 78-83.