By Gary M. White, MD
Nail-patella syndrome (NPS) is a rare autosomal dominant disease characterized by nail dysplasia (e.g., triangular lunula), iliac horns, and absent or hypoplastic patella.
- Hyperpigmentation of the pupillary margin of the iris (Lester iris) may also be seen as well as glomerulonephritis with renal failure.
- The underlying mutation is of the gene LMX1B on chromosome 9q34.1, which is a transcription factor involved in the normal dorsoventral patterning of the limb and normal development of the glomerular basement membrane in the kidney.
- In one review of 11 patients [JEADV 2016;30;1614], the mean age of clinical diagnosis was 6.5 years. Two presented with nail dysplasia and 9 with musculoskeletal abnormalities.
In the above cited review, triangular lunula was only seen in 4/11 (36%) of patients. Other nails dystrophies included hyponychia, anonychia, nail splitting, pterygium, and koilonychia. Nail changes may be present at birth and are most common on the thumb with decreasing incidence and severity toward the 5th finger. There may be absent interphalangeal joints. Elbow abnormalities include limited range of motion, hypoplasia of the capitellium and subluxation of the radial head. Kidney abnormalities including kidney failure occur.
Refer patients to the ophthalmologist, orthopedist and nephrologist.
A 22 year old man presented with renal failure. On exam, he was noted to have deformed nails in all 10 fingers and toes more prominent in the thumbs. He had deformed knee joints along with fixed flexion deformity of bilateral hip joints. He was diagnosed with renal failure in the setting of newly diagnosed NPS. Pan Afr Med J. 2011; 9: 31
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