Kindler syndrome: a new mutation and new diagnostic possibilities.

[kindler syndrome]

Kindler syndrome (KS ) is a rare genetic disorder that is characterized by blistering in infancy , followed by the onset of poikiloderma and photosensitivity in childhood . The recently elucidated molecular pathogenesis involves mutations in KIND 1 , a gene encoding the protein kindlin-1 , which is involved in the attachment of the actin cytoskeleton to the extracellular matrix in basal keratinocytes .We describe a child with the neonatal diagnosis of epidermolysis bullosa simplex who developed poikiloderma and skin fragility at 6 years of age . His skin showed diminished staining with anti-kindlin-1 antibody , and genetic analysis revealed that he was a compound heterozygote with a previously unreported mutation in KIND 1 . Ultrastructural clues to the diagnosis of KS were present in a biopsy specimen that was obtained when the patient was 10 months old , before he developed poikiloderma and photosensitivity .In this case , a combination of a known mutation (R 271 X ) and a newly described mutation (1755 delT ) in the KIND 1 gene produced loss of function in kindlin-1 , leading to the clinical features of KS . Ultrastructural findings characteristic of KS were evident years before the onset of poikiloderma and sun sensitivity . In infancy , electron microscopy can enable early , accurate diagnosis of KS .