Kindler Syndrome Workup

1. Siegel DH, Ashton GH, Penagos HG, Lee JV, Feiler HS, Wilhelmsen KC, 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 Jul. 73(1):174-87. [QxMD MEDLINE Link].

2. Ashton GH, McLean WH, South AP, Oyama N, Smith FJ, Al-Suwaid R, et al. Recurrent mutations in kindlin-1, a novel keratinocyte focal contact protein, in the autosomal recessive skin fragility and photosensitivity disorder, Kindler syndrome. J Invest Dermatol. 2004 Jan. 122(1):78-83. [QxMD MEDLINE Link].

3. Lai-Cheong JE, Ussar S, Arita K, Hart IR, McGrath JA. Colocalization of kindlin-1, kindlin-2, and migfilin at keratinocyte focal adhesion and relevance to the pathophysiology of Kindler syndrome. J Invest Dermatol. 2008 Sep. 128(9):2156-65. [QxMD MEDLINE Link].

4. Penagos H, Jaen M, Sancho MT, Saborio MR, Fallas VG, Siegel DH, et al. Kindler syndrome in native Americans from Panama: report of 26 cases. Arch Dermatol. 2004 Aug. 140(8):939-44. [QxMD MEDLINE Link].

5. Wiebe CB, Penagos H, Luong N, Slots J, Epstein E Jr, Siegel D, et al. Clinical and microbiologic study of periodontitis associated with Kindler syndrome. J Periodontol. 2003 Jan. 74(1):25-31. [QxMD MEDLINE Link].

6. Shimizu H, Sato M, Ban M, Kitajima Y, Ishizaki S, Harada T, et al. Immunohistochemical, ultrastructural, and molecular features of Kindler syndrome distinguish it from dystrophic epidermolysis bullosa. Arch Dermatol. 1997 Sep. 133(9):1111-7. [QxMD MEDLINE Link].

7. Burch JM, Fassihi H, Jones CA, Mengshol SC, Fitzpatrick JE, McGrath JA. Kindler syndrome: a new mutation and new diagnostic possibilities. Arch Dermatol. 2006 May. 142(5):620-4. [QxMD MEDLINE Link].

8. Ashton GH. Kindler syndrome. Clin Exp Dermatol. 2004 Mar. 29(2):116-21. [QxMD MEDLINE Link].

9. D'Souza MA, Kimble RM, McMillan JR. Kindler syndrome pathogenesis and fermitin family homologue 1 (kindlin-1) function. Dermatol Clin. 2010 Jan. 28(1):115-8. [QxMD MEDLINE Link].

Anatoli Freiman, MD, FRCPC, DABD Consulting Staff, Division of Dermatology, Women's College Hospital, University of Toronto Faculty of Medicine, Canada

Anatoli Freiman, MD, FRCPC, DABD is a member of the following medical societies: American Academy of Dermatology, American Society for Dermatologic Surgery, Canadian Medical Association, Ontario Medical Association, Royal College of Physicians and Surgeons of Canada, Women's Dermatologic Society, Canadian Dermatology Association

Disclosure: Nothing to disclose.

David F Butler, MD Former Section Chief of Dermatology, Central Texas Veterans Healthcare System; Professor of Dermatology, Texas A&M University College of Medicine; Founding Chair, Department of Dermatology, Scott and White Clinic

David F Butler, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, Association of Military Dermatologists, Phi Beta Kappa, Texas Dermatological Society

Disclosure: Nothing to disclose.

Robert A Schwartz, MD, MPH Professor and Head of Dermatology, Professor of Pathology, Professor of Pediatrics, Professor of Medicine, Rutgers New Jersey Medical School

Robert A Schwartz, MD, MPH is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, New York Academy of Medicine, Royal College of Physicians of Edinburgh, Sigma Xi, The Scientific Research Honor Society

Disclosure: Nothing to disclose.

Dirk M Elston, MD Professor and Chairman, Department of Dermatology and Dermatologic Surgery, Medical University of South Carolina College of Medicine

Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Franklin Flowers, MD Professor Emeritus, Department of Dermatology, Affiliate Associate Professor of Pathology, University of Florida College of Medicine

Franklin Flowers, MD is a member of the following medical societies: American College of Mohs Surgery

Disclosure: Nothing to disclose.

The authors and editors of Medscape Reference gratefully acknowledge the contributions of previous author, Laura Russell, MD, to the development and writing of this article.

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