[Skeletal anomalies in nail-patella syndrome. Case report and overview].
The nail-patella syndrome (NPS), also known as hereditary onychoosteodysplasia (HOOD), is a hereditary disorder with an autosomal dominant mode of inheritance involving nails, bones and other tissues. It is characterized by onchodysplasia of the finger nails (most prominent on the thumb and index finger) and V-shaped lunulae. Extraosseous manifestations include ocular (glaucoma, microcornea) and renal involvement (proteinuria, nephrotic syndrome). A variety of skeletal anomalies can be observed. We report a 59 year old male with NPS. In addition to dysplastic patellae and elbow joints and the pathognomonic posterior iliacal horns, he had involvement of humerus, radius, ulna. and finger bones, leading to early and painful degenerative changes. Furthermore, microproteinuria was noted. Early diagnosis of NPS is important to prevent early secondary arthrosis and severe renal damage.
Höger
P H
PH
Hautklinik, Universitäts-Krankenhaus Hamburg-Eppendorf.
Henschel
M G
MG
D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging / Q000235:genetics*; D001842:Bone and Bones / Q000000981:diagnostic imaging; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D005799:Genes, Dominant / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D009261:Nail-Patella Syndrome / Q000000981:diagnostic imaging / Q000235:genetics*; D010329:Patella / Q000000981:diagnostic imaging; D011859:Radiography