A Case of Delayed Diagnosis of Kindler Syndrome

Kindler syndrome (KS) is an autosomal recessive skin disorder characterized by traumatic acral blister formation in infancy and early childhood, progressive poikiloderma, cutaneous atrophy and increased photosensitivity. This rare genodermatosis represents combination of clinic features of hereditary epidermolysis bullosa and poikiloderma congenitale. Patients usually present with initial skin manifestations, i.e. traumatic acral bullous lesions, during the first year of life. In this period, it is difficult to make a differential diagnosis with dystrophic epidermolysis bullosa. KS is caused by loss-of-function mutations in a newly recognized protein, fermitin family homologue 1, encoded by the gene FERMT1, that plays crucial role in cell-matrix adhesion. To date, more than 100 cases have been described since the original report by Kindler in 1954. In this report, we described a female patient with 15-year history of progressive dysphagia who was first diagnosed as KS with associated cutaneous findings at the age of 32 years.