Kindler syndrome is a rare autosomal recessive genodermatosis, which presents itself in infancy. The disease is characterized by neonatal blistering, photosensitivity, progressive poikiloderma, diffuse cutaneous atrophy, abnormal pigmentation, and skin fragility. Ultrastructurally, marked basement membrane reduplications and cleavages at the dermal-epidermal junctions can be visualized. As age advances, the blistering and sun sensitivity tends to improve, although the abnormal pigmentation and basement thinning may worsen. In addition to these main features, occasionally, palmoplantar keratoderma, nail abnormalities, gingival fragility, poor dentition, and finger webbing may also be seen. Further rare complications of Kindler syndrome include a tendency towards squamous cell carcinoma of the hard palate, lip, and urinary bladder.
Ever since its first report in 1954, more than 100 cases of this disease have been reported in literature. The most significant of these is a cluster of 26 patients in a tribe from Panama. Differential diagnoses to be considered while considering this condition include congenital bullous diseases like epidermolysis bullosa, congenital poikilodermas and photosensitivity disorders like the Rothmund-Thompson syndrome, and other photosensitivity disorders related to defective DNA repair like Xeroderma Pigmentosum and Cockayne syndrome. Management of the disease is symptomatic and preventive. Protecting the skin from the sun is important. Since blister formation is encouraged by trauma, it is advised to avoid any kind of trauma. Infected bullous lesions may require antibiotics.
Kindler syndrome is caused due to defects in the KIND1 gene on chromosome 20. This gene expresses itself in basal keratinocytes, where it encodes a protein, called Kindlin-1, which plays an important role in attaching the actin cytoskeleton inside the cell to the extracellular matrix. Many nonsense and frameshift mutations have been identified within this gene in patients with Kindler syndrome.