Hereditary osteoonychodysplasia

Synonyms: nail-patella syndrome, HOOD

Definition, Clinical Manifestation, X-ray Imaging

The appearance of a patient with osteo-onychodysplasia.

• rare autosomal dominant inherited disease (mutation of the LMX1B gene on chromosome 9; role in morphogenesis of the glomerular basement membranes);
• severe deformities (dystrophic changes) of the nails or their aplasia (most visible on the thumbs);
• aplasia or hypoplasia of the patella;
• dysplastic changes of the elbow (cubitus valgus) and knee joint (genua valga) – often leading to dislocation of capitulum radii (and restriction of elbow movement) or dislocation of the patella;
• outgrowth at iliacs („iliac horns“) + open buckets hipbone with prominent anterior superior iliac spine (image of "elephant's ear");
• spondylolisthesis, scoliosis;
• pes equinovaris, congenital flat foot, abnormal iris pigmentation, in 3rd to 4th-decade nephropathy with renal failure can occur (about 1/3 of the patients; preceded by proteinuria and hematuria).

Nail-patella Syndrome (hereditary osteo-onychodysplasia).

Treatment

• Symptomatic (correction of leg deformities, then possibly patellar dislocation.)

References

Literature

• DUNGL, P.. Ortopedie. 1. edition. Praha : Grada Publishing, 2005. ISBN 80-247-0550-8.

• KLENER, P. Vnitřní lékařství. 3. edition. Praha : Galén, 2006. ISBN 80-7262-430-X.