eMedicine Specialties > Dermatology > Nails

Nail-Patella Syndrome: Differential Diagnoses & Workup

Author: Anna Choczaj-Kukula, MD, PhD, Locum Consultant Dermatologist, St John's Institute of Dermatology, St Thomas' Hospital, UK
Coauthor(s): Camila K Janniger, MD, Clinical Professor of Dermatology, Clinical Associate Professor of Pediatrics, Chief of Pediatric Dermatology, New Jersey Medical School
Contributor Information and Disclosures

Updated: Apr 21, 2009

Differential Diagnoses

Pachyonychia Congenita

Other Problems to Be Considered

Congenital ectodermal defects

Workup

Laboratory Studies

  • In nail-patella syndrome (NPS), also known as hereditary osteo-onychodysplasia (HOOD), perform urinalysis to detect proteinuria or hematuria.
  • Further urologic evaluation may be necessary.

Imaging Studies

  • Perform radiologic examination to search for diagnostic and minor signs.
  • Diagnostic radiographic findings include the following31,32,33 :
    • Hypoplastic patellae
    • Bilateral posterior iliac horns
    • Hypoplasia of the radial head or capitulum
  • The following findings are also reported:
    • Scapular hypoplasia
    • Scoliosis
    • Hypoplastic lateral humerus epicondyle

Procedures

  • In patients with proteinuria, percutaneous renal biopsy may be useful in evaluating renal involvement.
  • The features of nail-patella syndrome nephropathy at light, immunofluorescence, and electron microscopy have been detailed,5,34 with an emphasis on the presence of characteristic ultrastructural collagen fibrils in the glomerular basement membrane.

Histologic Findings

The literature includes descriptions of numerous histologic abnormalities in the kidneys of patients with nail-patella syndrome. These findings include chronic glomerulonephritis, focal glomerular necrosis, diffuse hydropic degeneration of the tubular epithelium, and localized basement membrane thickening with mild proliferation of the endothelial and epithelial cells.

More on Nail-Patella Syndrome

Overview: Nail-Patella Syndrome
Differential Diagnoses & Workup: Nail-Patella Syndrome
Treatment & Medication: Nail-Patella Syndrome
Follow-up: Nail-Patella Syndrome
References
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Further Reading

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Keywords

nail-patella syndrome, NPS, hereditary osteo-onychodysplasia, HOOD, Fong syndrome, Osterreicher-Turner syndrome, fingernail dysplasia, absent patellae, hypoplastic patellae, posterior conical iliac horns, radial head deformation, radial head luxation, Goodpasture disease, congenital permanent dislocation of the patella, CPDP

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Contributor Information and Disclosures

Author

Anna Choczaj-Kukula, MD, PhD, Locum Consultant Dermatologist, St John's Institute of Dermatology, St Thomas' Hospital, UK
Disclosure: Johnson & Johnson Salary Management position

Coauthor(s)

Camila K Janniger, MD, Clinical Professor of Dermatology, Clinical Associate Professor of Pediatrics, Chief of Pediatric Dermatology, New Jersey Medical School
Camila K Janniger, MD is a member of the following medical societies: American Academy of Dermatology
Disclosure: Nothing to disclose.

Medical Editor

Catharine Lisa Kauffman, MD, FACP, Georgetown Dermatology and Georgetown Dermpath
Catharine Lisa Kauffman, MD, FACP is a member of the following medical societies: American Academy of Dermatology, American Medical Association, Royal Society of Medicine, Society for Investigative Dermatology, and Women's Dermatologic Society
Disclosure: Nothing to disclose.

Pharmacy Editor

David F Butler, MD, Professor of Dermatology, Texas A&M University College of Medicine; Chair, Department of Dermatology, Director, Dermatology Residency Training Program, Scott and White Clinic
David F Butler, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, American Society for Dermatologic Surgery, American Society for MOHS Surgery, Association of Military Dermatologists, and Phi Beta Kappa
Disclosure: Nothing to disclose.

Managing Editor

Paul Krusinski, MD, Director of Dermatology, Professor, Department of Internal Medicine, Fletcher Allen Health Care, University of Vermont
Paul Krusinski, MD is a member of the following medical societies: American Academy of Dermatology, American College of Physicians, and Society for Investigative Dermatology
Disclosure: Nothing to disclose.

CME Editor

Glen H Crawford, MD, Assistant Clinical Professor, Department of Dermatology, University of Pennsylvania School of Medicine; Chief, Division of Dermatology, The Pennsylvania Hospital
Glen H Crawford, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American Medical Association, Phi Beta Kappa, and Society of USAF Flight Surgeons
Disclosure: Nothing to disclose.

Chief Editor

William D James, MD, Paul R Gross Professor of Dermatology, University of Pennsylvania School of Medicine; Vice-Chair, Program Director, Department of Dermatology, University of Pennsylvania Health System
William D James, MD is a member of the following medical societies: American Academy of Dermatology and Society for Investigative Dermatology
Disclosure: elsevier Royalty Other; american college of physicians Honoraria Other

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