A case of nail-patella syndrome associated with thyrotoxicosis

Nail-patella syndrome, also known as hereditary onycho-osteodystrophy, is a rare autosomal dominant disorder with pleiotropic phenotypic expression. The present report is of a nail-patella syndrome patient, a 26-year-old female, admitted to our NeuroMuscular Rehabilitation Clinic Division for neurological symptoms, secondary to a severe spondylolysthesis with bilateral L5 pedicle fracture. During hospitalization, she was also diagnosed with mild thyrotoxicosis, but interestingly enough, the bone mineral density, assessed at multiple sites, was quasi-normal. Abbreviations BMD – bone mineral density, BMI – body mass index, DXA – dual-energy X-ray absorptiometry, FT4 – serum free thyroxin, HOOD – Hereditary onycho-osteodystrophy, NPS – Nail-patella syndrome, TSH – thyroid-stimulating hormone