Retrospective diagnosis of Kindler syndrome in a 37-year-old man.

[kindler syndrome]

Kindler syndrome is a rare autosomal recessive disorder characterized by acral blisters in infancy and early childhood , followed by photosensitivity , progressive poikiloderma and cutaneous atrophy . Other features include webbing of the toes and fingers , palmoplantar hyperkeratosis , gingival fragility , poor dentition , and mucosal involvement in the form of urethral , anal and oesophageal stenosis . The recent finding of KIND 1 mutations in Kindler syndrome facilitates early diagnosis , prophylactic measures and more precise definition of the phenotype . In the family described here , molecular diagnosis of Kindler syndrome in an infant with acral blisters led to the belated diagnosis in a severely affected relative whose condition had remained unidentified for 37 years .