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KMID : 0363219960340030440
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Korean Journal of Dermatology
1996 Volume.34 No. 3 p.440 ~ p.444
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A Case of Nail-Patell-Elbow Syndrome
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Abstract
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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 resented with abnormalities of both the lst 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 lst finger-nails.We report a case
of
nail-patella syndrome with the review of literatiure.
(Kor J Dermatol 1996;34(3) : 440~444)
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