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 longterm screening.
|Original language||English (US)|
|Number of pages||4|
|State||Published - Feb 1 2018|
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