Kindler’s syndrome: a case report

Abstract

Kindler syndrome is one of the rare autosomal recessive disorders associated with skin fragility and is characterized by blistering in infancy, photosensitivity and progressive poikiloderma. It involves the skin and mucous membranes with radiological changes. The genetic defect has been identified on the short arm of chromosome 20. This report describes a 48-year-old patient with classical features like blistering and photosensitivity since childhood and the subsequent development of poikiloderma. The differential diagnosis of Kindler’s syndrome includes diseases like Bloom syndrome, Cockayne syndrome, dyskeratosis congenita, epidermolysis bullosa, Rothmund-Thomson syndrome and xeroderma pigmentosum. Our patient had classical cutaneous features of Kindler syndrome with dysphagia as a complication. Her two children, two brothers, one sister and two daughters of another sister are also suffering from the same problem.