A case of the nail-patella-elbow syndrome is reported. To our knowledge, it is the first case of the condition in which elastic fiber changes of the skin have been described. The abnormal histologic findings in grossly normal appearing skin is unexplained.
If the stigmata suggesting the nail-patella-elbow syndrome are recognized the patient and his family should be investigated for other mesodermal, especially renal, and ectodermal defects.