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Kindler syndrome

Author: Jane Widdowson et al, DEBRA New Zealand, February 2016.


Kindler syndrome — codes and concepts
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What is epidermolysis bullosa?

Epidermolysis bullosa (EB) is a group of inherited diseases that are characterised by blistering lesions on the skin and mucous membranes. These may occur anywhere on the body but most commonly appear at sites of friction and minor trauma such as the feet and hands. In some subtypes, blisters may also occur on internal organs, such as the oesophagus, stomach and respiratory tract, without any apparent friction.

What is Kindler syndrome?

Kindler syndrome is a form of epidermolysis bullosa in which there is a mixed pattern of blistering on multiple levels within and beneath the basement membrane zone.

Who gets Kindler syndrome?

Kindler syndrome is inherited as an autosomal recessive disorder. This means that an abnormal gene must be inherited from each parent. On average, one-in-four children in a family are affected, and the familial nature of the disorder may be unnoticed.

What are the clinical features of Kindler syndrome?

Kindler syndromeFeatures

Kindler syndrome

  • Blistering and photosensitivity beginning in infancy or early childhood
  • Gradual poikiloderma (altered pigmentation) and cutaneous atrophy (wasting)
  • Trauma-related blistering on hands and feet
  • Can also develop mucosal involvement, ophthalmic and dental abnormalities
  • Early development of actinic keratoses

How is Kindler syndrome diagnosed?

Where an informative family tree is known, it is often acceptable for a clinical diagnosis (based on the presenting signs above) to be made by a specialist dermatologist.

Diagnostic tests are also available in some countries and include skin biopsy of a newly induced blister which undergoes immunofluorescence antigen mapping (IFM) and transmission electron microscopy (EM). Mutational analysis, although not currently considered the first-line diagnostic test, is also available in some countries.

What is the treatment for Kindler syndrome?

See treatment of epidermolysis bullosa – general.

What is the outcome for patients with Kindler syndrome?

The blistering associated with Kindler syndrome reduces with age. Skin changes (poikiloderma) and photosensitivity persist.

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Related information

 

References

  • OMIM – Online Mendelian Inheritance in Man (search term Epidermolysis bullosa)
  • Kindler syndrome – GeneTests GeneReviews
  • Dermatologic Clinics Volume 28, Issue 1, Pages 1-196 (January 2010) Epidermolysis Bullosa: Part I – Pathogenesis and Clinical Features. Journal.
  • Dermatologic Clinics Volume 28, Issue 2, Pages 197-452 (April 2010) Epidermolysis Bullosa: Part II – Diagnosis and Management. Journal.
  • El Hachem M, Zambruno G, Bourdon-Lanoy E et al. Multicentre consensus recommendations for skin care in inherited epidermolysis bullosa. Orphanet J Rare Dis. 2014 May 20;9:76. doi: 10.1186/1750-1172-9-76. Review. PubMed PMID: 24884811; PubMed Central PMCID: PMC4110526.
  • Fine JD, Bruckner-Tuderman L, Eady RA et al. Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification. J Am Acad Dermatol. 2014 Jun;70(6):1103-26. doi: 10.1016/j.jaad.2014.01.903. Epub 2014 Mar 29. Review. PubMed PMID: 24690439.

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