ContentsSynopsisCodesLook ForDiagnostic PearlsDifferential Diagnosis & PitfallsBest TestsManagement PearlsTherapyReferencesView all Images (17)
Nail-patella syndrome in Adult
See also in: Nail and Distal Digit
Print Captions OFF
Other Resources UpToDate PubMed

Nail-patella syndrome in Adult

See also in: Nail and Distal Digit
Print Images (17)
Contributors: Shari Lipner MD, PhD, Bertrand Richert MD, Robert Baran MD, Susan Burgin MD
Other Resources UpToDate PubMed

Synopsis

Nail-patella-elbow syndrome is a rare autosomal dominant inherited disease affecting the nails and bones and occurring secondary to a mutation in the LMX1B gene on chromosome 9q34. LMX1B is a LIM‐homeodomain transcription factor that is important in limb and glomerular development.

Associated nail changes affect the thumbnails, but often affect all fingernails, with severity decreasing until the 5th digit. Absence of the nail is typical, but hyponychia, especially on the medial side, may also be observed. Lesions are commonly symmetric. Triangular lunulae or V-shaped lunulae are also highly suggestive and typically pathognomonic of the disease. These nail findings are present at birth in almost all cases. Other alterations can include koilonychias, brittle nails, nail splitting, and pterygium.

Toenails are rarely affected. There may be loss of the creases in the skin overlying the distal interphalangeal joint or a complete absence of the joint itself. There is no correlation between the severity of nail disease and systemic involvement.

Moderate to severe patellar dysplasia is seen in 80% of cases, and absent patella is seen in 20% of cases. Pain or gait problems occur following exercise, and patients usually develop early arthritis. Trouble in walking and dislocation of the knee are also possible. Arthrodysplasia of the elbow is observed in 90% of cases secondary to hypoplasia of the radial head leading to limited extension and supination of the elbow. Bilateral posterior iliac crest exostoses (horns) are palpable in 70% of cases and demonstrated on x-ray in 80% of cases. Other possible findings include scoliosis, pas planus, pectus excavatum, short stature, and clubfoot.

Renal dysfunction, eye abnormalities (glaucoma, ocular hypertension), and hearing loss can also occur. Renal involvement is the most worrisome systemic association and may occur in 30%-40% of patients. The most common findings are proteinuria, hematuria, hypertension, and nephrotic syndrome. End‐stage renal disease is rare.

For more information, see OMIM.

Codes

ICD10CM:
Q87.2 – Congenital malformation syndromes predominantly involving limbs

SNOMEDCT:
22199006 – Nail-patella syndrome

Look For

Subscription Required

Diagnostic Pearls

Subscription Required

Differential Diagnosis & Pitfalls

Nail disease: Nail and bone findings:
  • DOORS syndrome (deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures)
  • Trisomy 8 mosaicism
  • Coffin-Siris syndrome
  • Senior syndrome (brachymorphism-onychodysplasia-dysphalangism syndrome)

Best Tests

Subscription Required

Management Pearls

Subscription Required

Therapy

Subscription Required

References

Subscription Required

Last Reviewed: 04/16/2019
Last Updated: 05/17/2019
Copyright © 2019 VisualDx®. All rights reserved.
Nail-patella syndrome in Adult
See also in: Nail and Distal Digit
Captions OFF Print 17 Images Filter Images
View all Images (17)
(with subscription)
 Reset
Nail-patella syndrome : Absent nail plate, Fingernails, Hypoplastic patella, Knee pain, Thumb, Triangular lunula, Arthralgia, Spoon nail, Limited range of motion
Clinical image of Nail-patella syndrome
Fingernail with hyponychia, nail plate atrophy, pterygium, and longitudinal ridging.
Copyright © 2019 VisualDx®. All rights reserved.