A Case of Nail - Patella - Elbow Syndrome / 대한피부과학회지

ABSTRACT

Nail-patella-elbow syndrome is a relatively rare autosomal dominant disorder characterized by nail and skeletal defects, especially of the patella. The principal manifestations include hypoplastic or absent patellae, dysplastic finger-nails, dislocated radial heads with limited elbow motion, and often iliac horns. A less common but not infrequent manifestations are hereditary nephropathy and hyperpigmentation of the pupillary margin of the iris ("Lester iris"). A 17-year-old man was presented with abnormalities of both the 1st and 2nd finger-nails since birth. He had triangular lunulae and hypoplastic nail plates. Two months ago, the diagnosis of subluxation of both elbow joints was made as limitation of motion and radiologic findings of both knee joints revealed hypoplastic patellae. Routine laboratory studies were all within normal limits. The patient's father had triangular lunulae and hypoplastic nail plates on both 1st finger-nails. We report a case of nail -patella syndrome with the review of literature.