• Littrell TA
• Johnson J

• Aged
• Case Reports
• Exostoses / diagnostic imaging
• Female
• Nail-Patella Syndrome / diagnostic imaging

Background: Nail-Patella Syndrome is a rare autosomal dominant condition with high penetrance and varied clinical expression, affecting fewer than 20 in 1 million persons. The most common features include nail dysplasia, hypoplastic or absent patella, renal anomalies, and ophthalmological disease.

Case Presentation: A 67-year-old female presented to a chiropractic clinic for symptoms of hip pain with radiation to the knee. The patient’s history was remarkable for glaucoma, retinal surgeries, and current cigarette smoking. Physical examination results were remarkable for hypertension, delayed upper and lower extremity capillary refill, cervical and lumbar muscle spasms, and reduced cervical ranges of motion. Radiographic examination revealed osteopenia, diffuse idiopathic skeletal hyperostosis, osteoarthrosis, and iliac horns (bony exostoses) from the posterior ilia.

Results: The patient was diagnosed with Nail-Patella Syndrome, from the radiographic and clinical findings, and with intersegmental dysfunction, hypermyotonicity, osteoarthrosis, and osteopenia. Treatment included chiropractic manipulative therapy, postural exercises, electrical muscle stimulation, and cryotherapy. The patient’s musculoskeletal symptoms fully resolved within 3 weeks. She was referred to nephrology and ophthalmology for evaluation of associated complications of Nail-Patella Syndrome.

Conclusion: An elderly patient with musculoskeletal symptoms experienced pain relief with conservative treatment and was diagnosed with a rare inherited disease not previously recognized by her other physicians or by family members with similar clinical features. The discovery led to specialist consultations in ophthalmology and nephrology for management of possible associated complications of Nail-Patella Syndrome.

Author keywords: Nail-Patella Syndrome, Fong Disease, Iliac horns

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