Kindler Syndrome Clinical Presentation

  • Author: Anatoli Freiman, MD, FRCPC, DABD; Chief Editor: Dirk M Elston, MD   more...
 
Updated: Feb 28, 2012
 

History

The hallmark of Kindler syndrome is congenital blistering and photosensitivity, combined with progressive poikiloderma and diffuse cutaneous atrophy. Both blistering and photosensitivity begin in infancy or early childhood and improve significantly with age. The poikiloderma appears gradually and becomes more prominent later in life. Some patients develop sclerodermoid changes of the fingers and nails. Recurrent trauma-induced blister formation occurs primarily on hands and feet, which may prompt an incorrect diagnosis of epidermolysis bullosa.

Photosensitivity can manifest as increased susceptibility to sunburn. Additionally, patients with Kindler syndrome frequently have poor dental hygiene and dental problems.

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Physical

Diffuse poikiloderma (reticular telangiectasia, patchy hypopigmentation and hyperpigmentation, epidermal atrophy), skin fragility, and atrophic changes (cigarette paper–like wrinkled appearance of the skin) are most prominent in sun-exposed areas, most commonly on the dorsal surfaces of the hands and feet.

During the neonatal period and early childhood, acral blisters and bullae are seen in trauma-prone areas.

Dental abnormalities occur commonly in affected persons and include advanced periodontal bone loss, mild-to-severe gingivitis, dental caries, and leukokeratosis of buccal mucosa. In one study, 13 of 18 patients with the syndrome had marked periodontal disease.[5]

Less common and variable features of the syndrome include pitted or punctate palmoplantar hyperkeratosis (≤65% of individuals), webbing of fingers and toes, nail dystrophy, and, in one case report, abnormal skeletal maturation.

Mucosal involvement is frequent and leads to urethral, anal, and esophageal stenosis.

Ophthalmic abnormalities have also been described in some patients and include ectropion, keratoconjunctivitis, and conjunctival scarring.

Early development of actinic keratoses may occur. Squamous cell carcinoma of the lower lip and transitional cell carcinoma of the bladder have also been reported in one patient with Kindler syndrome.

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Causes

Kindler syndrome has been shown to result from mutations in the KIND1 gene on band 20p12.3 (see Pathophysiology). An autosomal recessive pattern of transmission has been reported, but sporadic cases are common, with many originating in consanguineous families. Variable expressivity within families has also been documented. Mutations in the gene encoding type VII collagen (COLA7A1) have been excluded, distinguishing Kindler syndrome from dystrophic epidermolysis bullosa.

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Contributor Information and Disclosures
Author

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 Dermatology Association, Canadian Medical Association, Ontario Medical Association, Royal College of Physicians and Surgeons of Canada, and Women's Dermatologic Society

Disclosure: Nothing to disclose.

Specialty Editor Board

Franklin Flowers, MD  Chief, Division of Dermatology, Professor, Department of Medicine and Otolaryngology, Affiliate Associate Professor of Pediatrics and Pathology, University of Florida College of Medicine

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

Disclosure: Nothing to disclose.

David F Butler, MD  Professor of Dermatology, Texas A&M University College of Medicine; Chair, Department of Dermatology, Director, Dermatology Residency Training Program, Scott and White Clinic, Northside Clinic

David F Butler, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, American Society for Dermatologic Surgery, American Society for MOHS Surgery, Association of Military Dermatologists, and Phi Beta Kappa

Disclosure: Nothing to disclose.

Robert A Schwartz, MD, MPH  Professor and Head, Dermatology, Professor of Pathology, Pediatrics, Medicine, and Preventive Medicine and Community Health, University of Medicine and Dentistry of New Jersey-New Jersey Medical School

Robert A Schwartz, MD, MPH is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American College of Physicians, and Sigma Xi

Disclosure: Nothing to disclose.

Catherine M Quirk, MD  Clinical Assistant Professor, Department of Dermatology, University of Pennsylvania

Catherine M Quirk, MD is a member of the following medical societies: Alpha Omega Alpha and American Academy of Dermatology

Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD  Director, Ackerman Academy of Dermatopathology, New York

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

Disclosure: Nothing to disclose.

Additional Contributors

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.

References

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  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. Jan 2004;122(1):78-83. [Medline].

  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. Sep 2008;128(9):2156-65. [Medline].

  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. Aug 2004;140(8):939-44. [Medline].

  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. Jan 2003;74(1):25-31. [Medline].

  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. Sep 1997;133(9):1111-7. [Medline].

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  12. Has C, Yordanova I, Balabanova M, Kazandjieva J, Herz C, Kohlhase J, et al. A novel large FERMT1 (KIND1) gene deletion in Kindler syndrome. J Dermatol Sci. Dec 2008;52(3):209-12. [Medline].

  13. Hovnanian A, Blanchet-Bardon C, de Prost Y. Poikiloderma of Theresa Kindler: report of a case with ultrastructural study, and review of the literature. Pediatr Dermatol. Jun 1989;6(2):82-90. [Medline].

  14. Jobard F, Bouadjar B, Caux F, Hadj-Rabia S, Has C, Matsuda 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. Apr 15 2003;12(8):925-35. [Medline].

  15. [Best Evidence] Lai-Cheong JE, McGrath JA. Kindler syndrome. Dermatol Clinics. Jan;28(1):119--24. [Medline].

  16. [Best Evidence] Lai-Cheong JE, Tanaka A, Hawche G, Emanuel P, Maari C, Taskesen M, et al. Kindler syndrome: a focal adhesion genodermatosis. Br J Dermatol. Feb 2009;160(2):233-42. [Medline].

  17. Lanschuetzer CM, Muss WH, Emberger M, Pohla-Gubo G, Klausegger A, Bauer JW, et al. Characteristic immunohistochemical and ultrastructural findings indicate that Kindler's syndrome is an apoptotic skin disorder. J Cutan Pathol. Oct 2003;30(9):553-60. [Medline].

  18. Patrizi A, Pauluzzi P, Neri I, Trevisan G, De Giorgi LB, Pasquinelli G. Kindler syndrome: report of a case with ultrastructural study and review of the literature. Pediatr Dermatol. Sep-Oct 1996;13(5):397-402. [Medline].

  19. Senturk N, Usubutun A, Sahin S, Bukulmez G, Erkek E, Topaloglu R, et al. Kindler syndrome: absence of definite ultrastructural feature. J Am Acad Dermatol. Feb 1999;40(2 Pt 2):335-7. [Medline].

  20. Sharma RC, Mahajan V, Sharma NL, Sharma AK. Kindler syndrome. Int J Dermatol. Sep 2003;42(9):727-32. [Medline].

  21. Yasukawa K, Sato-Matsumura KC, McMillan J, Tsuchiya K, Shimizu H. Exclusion of COL7A1 mutation in Kindler syndrome. J Am Acad Dermatol. Mar 2002;46(3):447-50. [Medline].

 
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Images show the progression of lesions. A and B: At birth, acral blisters and erosions are present. C and D: At age 5 years, atrophy and reticulated erythema with dyschromic patches are noted. E and F: At age 7 years, progressive poikilodermatous changes with reticulated erythema and telangiectasia occur. G and H: At age 10 and 15 years, poikiloderma with telangiectasia and depigmentation are observed. Excoriations are due to pruritus. Reprinted from Yasukawa K, Sato-Matsumura KC, McMillan J, et al: Exclusion of COL7A1 mutation in Kindler syndrome. J Am Acad Dermatol 2002 Mar; 46(3): 447-50. Courtesy of the American Academy of Dermatology.
 
 
 
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