Kindler syndrome. A new bullous dermatosis

摘要

The Kindler syndrome is a new form of inherited epidermolysis bullosa and the first genodermatosis caused by a defect of the focal adhesions. Kindlin-1, the deficient protein, plays an essential role in integrin activation and in the adhesion of keratinocytes to the extracellular matrix. The adhesion defect leads to skin blistering which begins at birth and ameliorates with age, and to mucosal fragility which leads to scarring and stricture formation. Skin atrophy and poikiloderma develop progressively. Photosensitivity is rather mild, but squamous cell carcinomas develop on sun-exposed areas mainly after the age of 40 years. The most important differential diagnoses are epidermolysis bullosa with mottled pigmentation and dystrophic epidermolysis bullosa. Management aims to treat the symptoms and prevent complications.