Introduction - epidermolysis bullosa
Introduction
Demographics
Clinical features
Diagnosis
Treatment
Outcome
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.
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.
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.
Kindler syndrome |
Features |
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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 |
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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.
See treatment of epidermolysis bullosa – general.
The blistering associated with Kindler syndrome reduces with age. Skin changes (poikiloderma) and photosensitivity persist.
