Price Alexandra, Cervantes Jessica, Lindsey Scott, Aickara Divya, Hu Shasa
Department of Dermatology and Cutaneous Surgery, University of Miami Miller School of Medicine, Florida, USA.
Florida State University College of Medicine, Tallahassee, USA.
Cutis. 2018 Feb;101(2):126-129.
Nail-patella syndrome (NPS) is a rare autosomal-dominant disorder characterized by the classic triad of fingernail dysplasia, patellar absence/hypoplasia, and presence of iliac horns. We describe the various features of NPS, focusing on dermatologic and musculoskeletal findings. A 69-year-old man presented to the dermatology clinic for a routine skin cancer screening. Physical examination revealed hypoplastic fingernails with longitudinal ridging, splitting, and triangular lunulae; left patellar absence and right patellar hypoplasia; and bilateral iliac horns that had been present since birth. His medical history was remarkable for glaucoma, hypertension, osteoporosis, and chronic kidney disease. A detailed awareness of the classic findings of NPS can facilitate its early recognition and enable appropriate treatment and long-term screening.
