Hereditary osteo-onychodysplasia
From WikiLectures
synonym: nail-patella syndrome, HOOD
Definition, clinical and x-ray picture[edit | edit source]
- Rare autosomal dominant hereditary disease (mutation gene in LMX1B on the 9th chromosome; role, among other things, in the morphogenesis of the glomerular basement membranes);
- severe deformities (dystrophic changes) of the nails or their aplasia (most pronounced on the thumbs);
- aplasia or hypoplasia patellae;
- dysplastic changes of the skeleton elbow (cubitus valgus) and knee joint (genua valga) - often leading to dislocation of the head radius (and limitation of movement in the elbow) or dislocation of the patella;
- outgrowths of the iliac blades ("iliac horns") + open iliac blades with protruding spina iliaca anterior superior (image of an "elephant ear");
- spondylolisthesis, scoliosis;
- pes equinovaris, congenital flat foot, abnormal pigmentation of the iris, in the 3rd-4th decade of nephropathy with renal failure (in about 1/3 of patients; preceded by proteinuria and hematuria).
Nail-patella syndrome (hereditary osteoonychodysplasia).
Therapy[edit | edit source]
- Symptomatic (correction of leg deformities, then possible dislocation of the patella).
Links[edit | edit source]
References[edit | edit source]
- DUNGL, P., et al. Orthopedics. 1. edition. Prague : Grada Publishing, 2005. ISBN 80-247-0550-8.
- KLENER, P, et al. Internal medicine. 3. edition. Prague : Galen, 2006. ISBN 80-7262-430-X.
