Year: 2025
Type: article
Abstract: Disclosure: K. Kinger: None. N.H. Esfandiari: None. S. Saberi: None. Introduction: Nail patella syndrome is a rare autosomal dominant disorder that is associated with changes in the nails, knees, and elbows as well as the presence of iliac horns on imaging. Associated conditions include renal and ophthalmologic involvement along with decreased bone density, which leads to early osteoporosis and an increased risk of fractures. Clinical Case: A 70-year-old female with a history of Hashimoto’s hypothyroidism, nail patella syndrome (NPS), osteoporosis, pectus excavatum, GERD, and allergic rhinitis presented for evaluation of osteoporosis. She previously underwent surgery for pectus excavatum which failed resulting in chronic dyspnea. She also had proteinuria previously followed by urology, elevated ocular pressures followed by ophthalmology, radial head abnormalities, and small patellas. Family history was significant for hip fracture in both parents and osteopenia in her sister. She had been told as a child that she had ‘birth defects’; however this was not evaluated further. In preparation for family planning she was referred to genetics and was diagnosed with nail patella syndrome at age 40, thought to be a spontaneous mutation. She was followed by dermatology for koilonchyia and dorsal pterygium changes on her right second, third, and left second fingernails and loss of cuticles with erythema of the nail bed on the left second and right second, third and fourth digits. In regards to her osteoporosis, she was diagnosed with this at age 50 in 2004 after completing a quantitative ultrasound of the heel at a local fair which prompted a bone density scan. Per report no secondary causes were found. Alendronate was prescribed from 2005 to 2012. She then sustained a T5 compression fracture after a fall on ice in 2016. Alendronate was resumed in 2021 but she was unable to tolerate it so was given zolendronic acid in 9/2022 and 9/2023. Her DXA scan in 2022 demonstrated osteoporosis of the right femoral neck with a T score of -2.5. Repeat DXA in 2024 demonstrated an interval increase of 5.4% in her right femoral neck with a T score of -2.2. Her labs upon consultation in 2024 were notable for serum calcium 9.39 mg/dL (8.6-10.3 mg/dL), 25 hydroxy vitamin D level 70 ng/mL (30-100 ng/mL), and C-telopeptide level 112 pg/mL. Due to her low C-telopeptide and improvement in her DXA a bisphosphonate holiday was reinitiated in 2024. Clinical lessons: Patients with nail patella syndrome have a higher risk of early osteoporosis and should be monitored closely to evaluate for early intervention. Presentation: Monday, July 14, 2025
Source: Journal of the Endocrine Society
Institution: University of Michigan
Language: English
Subfield: Developmental Biology
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $3,255
OpenAlex ID: W7093369474