“Knee-Ding” a Diagnosis: A Case of Nail Patella Syndrome

Abstract

Nail Patella Syndrome (NPS) is a rare genetic disorder with pathognomonic signs including dystrophic fingernails, iliac horns, and limb abnormalities, which commonly include hypoplastic development of the patellae, causing patients to experience patellar instability. This resulting patellar instability increases susceptibility to recurrent subluxations or dislocations in NPS patients. Since these anatomical abnormalities are present at birth or in childhood, early recognition may prevent the need for surgical intervention if appropriate preventive measures are taken. This case report describes a 54-year-old woman with a history of NPS, diagnosed later in adulthood, with a prior patellectomy at age 18 secondary to an unspecified left knee injury that occurred at age 4. A combination of radiographic and clinical findings are presented, which support the diagnosis of NPS, including dystrophic nails, left knee x-ray consistent with prior patellectomy, and right knee x-ray showing inferolateral subluxation of a hypoplastic patella. Additional signs associated with NPS are also discussed, including mood disorders, Raynaud’s, and a high hairline which may assist in early diagnosis. This case report emphasizes earlier identification of NPS by clinicians through recognition of signs and symptoms while also considering proactive measures to lessen recurrent subluxations or dislocations to preserve patellar integrity and reduce the need for surgical intervention.