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Peer-reviewedCC BY 4.0Journal of Clinical Medicine

Nail-Patella Syndrome in a 76-Year-Old Woman: Multisystem Phenotype, Diagnostic Delay, and Clinical Implications

  • Cosmina Diaconu1,2
  • Anca Vidrighin3
  • Emi Marinela Preda4,5
  • Cristinel Gabriel Diaconu6,7
  • Carmen Daniela Domnariu1
  • Florina Ligia Popa2,8
  • Adriana Maria Canciu1,2
  • Oana-Georgiana Cernea9
  • Dana M. Harris10
  • Corina Porr11,12
12 affiliations
  1. 1Department of Nursing and Dental Medicine, Faculty of Medicine, Lucian Blaga University of Sibiu, 550024 Sibiu, Romania
  2. 2Clinic of Physical Medicine and Rehabilitation, County Clinical Emergency Hospital Sibiu, Bulevardul Corneliu Coposu 2–4, 550245 Sibiu, Romania
  3. 3Department of Paediatrics, Faculty of Medicine, Lucian Blaga University of Sibiu, 550169 Sibiu, Romania
  4. 4Department of Radiology, Carol Davila University of Medicine and Pharmacy, 050474 Bucharest, Romania
  5. 5Department of Radiology and Medical Imaging, Foișor Clinical Hospital of Orthopaedics, Traumatology and Osteoarticular TB, 021382 Bucharest, Romania
  6. 6Department of Physiology, Faculty of Medicine, Lucian Blaga University of Sibiu, 2A Lucian Blaga Street, 550169 Sibiu, Romania
  7. 7Department of Radiology, Pneumology and Tuberculosis Hospital, 550196 Sibiu, Romania
  8. 8Department of Physical Medicine and Rehabilitation, Faculty of Medicine, Lucian Blaga University of Sibiu, 550024 Sibiu, Romania
  9. 9Doctoral School, Faculty of Medicine, Lucian Blaga University of Sibiu, 550169 Sibiu, Romania
  10. 10Department of Internal Medicine, Mayo Clinic, Jacksonville, FL 32224, USA
  11. 11Allergology Department, Faculty of Medicine, Lucian Blaga University of Sibiu, 550169 Sibiu, Romania
  12. 12Allergology Department, County Clinical Emergency Hospital Sibiu, Bulevardul Corneliu Coposu 2–4, 550245 Sibiu, Romania
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Abstract

Nail-patella syndrome (NPS) is a rare autosomal dominant multisystem disorder characterized by a variable combination of nail abnormalities, patellar hypoplasia or dysplasia, elbow involvement, and iliac horns, with possible renal, ophthalmological, neurological, and skeletal manifestations. Recognition may be substantially delayed when individual abnormalities are assessed separately or attributed to age-related and degenerative musculoskeletal disease. We report the case of a 76-year-old woman evaluated for progressive bilateral knee pain, gait impairment, and chronic multisite musculoskeletal symptoms. Congenital thumbnail abnormalities and long-standing restriction of elbow extension had been present since childhood. Suspicion of NPS was first raised at the age of 43 years after bilateral iliac horns were identified radiographically in one of her grandsons. Clinical examination demonstrated bilateral thumbnail hypoplasia with partial absence of the ulnar nail plate, triangular lunulae, reduced dorsal distal interphalangeal creases, bilateral fifth-finger flexion contractures, marked limitation of elbow extension with restricted pronation and supination, and clinically hypoplastic patellae. Bilateral Lester sign and glaucoma were also documented. Radiographic assessment revealed bilateral patellar hypoplasia, lateral displacement of the left patella, bilateral knee osteoarthritis, and characteristic bilateral iliac horns. Additional findings included bilateral hip osteoarthritis, lumbar degenerative changes, pes planus, a bifid configuration of the left fifth metatarsal, osteopenia, and sensory abnormalities. Walking pain was 70 mm on a 100-mm visual analogue scale, and the WOMAC score was 42/96. Following a 10-day rehabilitation program, walking pain decreased from 70 to 50 mm on the visual analogue scale, while the WOMAC total score improved from 42/96 to 37/96, indicating short-term symptomatic and functional improvement. Routine urinalysis showed no proteinuria or hematuria. Molecular testing for a pathogenic LMX1B variant was not performed. The diagnosis was established on the basis of the highly characteristic integrated clinical and radiographic phenotype. This case illustrates how NPS may remain incompletely recognized for decades despite congenital manifestations and emphasizes the clinical value of pattern recognition across multiple organ systems. In particular, the coexistence of characteristic nail changes, patellar abnormalities, elbow involvement, and bilateral iliac horns should prompt consideration of NPS and appropriate multidisciplinary surveillance.

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Cite

BibTeXRIS
BibTeX
@article{diaconu2026nailpatella,
  title = {{Nail-Patella Syndrome in a 76-Year-Old Woman: Multisystem Phenotype, Diagnostic Delay, and Clinical Implications}},
  author = {Cosmina Diaconu and Anca Vidrighin and Emi Marinela Preda and Cristinel Gabriel Diaconu and Carmen Daniela Domnariu and Florina Ligia Popa and Adriana Maria Canciu and Oana-Georgiana Cernea and Dana M. Harris and Corina Porr},
  journal = {Journal of Clinical Medicine},
  year = {2026},
  month = oct,
  doi = {10.3390/jcm15207861},
  url = {https://www.mdpi.com/2077-0383/15/20/7861},
  note = {CC BY 4.0},
}
RIS
TY  - JOUR
TI  - Nail-Patella Syndrome in a 76-Year-Old Woman: Multisystem Phenotype, Diagnostic Delay, and Clinical Implications
AU  - Cosmina Diaconu
AU  - Anca Vidrighin
AU  - Emi Marinela Preda
AU  - Cristinel Gabriel Diaconu
AU  - Carmen Daniela Domnariu
AU  - Florina Ligia Popa
AU  - Adriana Maria Canciu
AU  - Oana-Georgiana Cernea
AU  - Dana M. Harris
AU  - Corina Porr
PY  - 2026
DA  - 2026/10/01
JO  - Journal of Clinical Medicine
DO  - 10.3390/jcm15207861
UR  - https://www.mdpi.com/2077-0383/15/20/7861
AB  - Nail-patella syndrome (NPS) is a rare autosomal dominant multisystem disorder characterized by a variable combination of nail abnormalities, patellar hypoplasia or dysplasia, elbow involvement, and iliac horns, with possible renal, ophthalmological, neurological, and skeletal manifestations. Recognition may be substantially delayed when individual abnormalities are assessed separately or attributed to age-related and degenerative musculoskeletal disease. We report the case of a 76-year-old woman evaluated for progressive bilateral knee pain, gait impairment, and chronic multisite musculoskeletal symptoms. Congenital thumbnail abnormalities and long-standing restriction of elbow extension had been present since childhood. Suspicion of NPS was first raised at the age of 43 years after bilateral iliac horns were identified radiographically in one of her grandsons. Clinical examination demonstrated bilateral thumbnail hypoplasia with partial absence of the ulnar nail plate, triangular lunulae, reduced dorsal distal interphalangeal creases, bilateral fifth-finger flexion contractures, marked limitation of elbow extension with restricted pronation and supination, and clinically hypoplastic patellae. Bilateral Lester sign and glaucoma were also documented. Radiographic assessment revealed bilateral patellar hypoplasia, lateral displacement of the left patella, bilateral knee osteoarthritis, and characteristic bilateral iliac horns. Additional findings included bilateral hip osteoarthritis, lumbar degenerative changes, pes planus, a bifid configuration of the left fifth metatarsal, osteopenia, and sensory abnormalities. Walking pain was 70 mm on a 100-mm visual analogue scale, and the WOMAC score was 42/96. Following a 10-day rehabilitation program, walking pain decreased from 70 to 50 mm on the visual analogue scale, while the WOMAC total score improved from 42/96 to 37/96, indicating short-term symptomatic and functional improvement. Routine urinalysis showed no proteinuria or hematuria. Molecular testing for a pathogenic LMX1B variant was not performed. The diagnosis was established on the basis of the highly characteristic integrated clinical and radiographic phenotype. This case illustrates how NPS may remain incompletely recognized for decades despite congenital manifestations and emphasizes the clinical value of pattern recognition across multiple organ systems. In particular, the coexistence of characteristic nail changes, patellar abnormalities, elbow involvement, and bilateral iliac horns should prompt consideration of NPS and appropriate multidisciplinary surveillance.
SN  - 2077-0383
ER  -