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Kindler syndrome. Clinical and ultrastructural findings
1Division of Dermatology, Women's College Hospital, University of Toronto, Ontario.
Archives of Dermatology
|December 1, 1996
Summary
Kindler syndrome involves blistering and photosensitivity, with blisters forming at the basal layer of the skin. This study identified new features like actinic keratoses and tonofilament clumping, suggesting keratin abnormalities.
Area of Science:
- Dermatology
- Genetics
- Cell Biology
Background:
- Kindler syndrome is a rare genodermatosis.
- It presents with features of hereditary epidermolysis bullosa and poikiloderma congenitale.
- The precise level of blister formation in Kindler syndrome remains unclear.
Observation:
- Two brothers with Kindler syndrome presented with acral blistering and photosensitivity since infancy.
- Blistering was observed to occur at the basal layer of the epidermis.
- Intact keratinocytes near blisters showed marked tonofilament clumping.
Findings:
- Basal layer separation was confirmed in both spontaneous and induced blisters.
- Actinic keratoses were observed in a 21-year-old patient, a novel finding in Kindler syndrome.
- Clumped tonofilaments in keratinocytes suggest potential abnormalities in keratin 5 or 14.
Implications:
- The basal layer is identified as the primary site of blister formation in Kindler syndrome.
- Early solar-induced skin conditions like actinic keratoses may be a risk for some Kindler syndrome patients.
- Keratin abnormalities may contribute to the blistering phenotype in Kindler syndrome.