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Dermatologic Manifestations of Nail-Patella Syndrome Workup

  • Author: Anna Choczaj-Kukula, MD, PhD; Chief Editor: Dirk M Elston, MD  more...
 
Updated: Apr 08, 2014
 

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.

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Imaging Studies

Perform radiologic examination to search for diagnostic and minor signs.

Diagnostic radiographic findings include the following[49, 50, 51] :

  • 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
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Other Tests

Using genetic studies to confirm mutation in the LMX1B gene can be helpful to confirm the diagnosis.[1]

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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,[7, 52] with an emphasis on the presence of characteristic ultrastructural collagen fibrils in the glomerular basement membrane.

Midline synovial septum completely subdividing the knee into medial and lateral compartments has been found during arthroscopy in patients with NPS.[53]

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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.

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Contributor Information and Disclosures
Author

Anna Choczaj-Kukula, MD, PhD Locum Consultant Dermatologist, Barnet and Chase Farm NHS Trust; Honorary Clinical Research Fellow, Royal Free Hospital, UK

Anna Choczaj-Kukula, MD, PhD is a member of the following medical societies: American Academy of Dermatology, Royal Society of Medicine, European Academy of Dermatology and Venereology, British Association of Dermatologists

Disclosure: Partner received salary from Johnson & Johnson for management position.

Coauthor(s)

Camila K Janniger, MD Clinical Professor of Dermatology, Clinical Associate Professor of Pediatrics, Chief of Pediatric Dermatology, Rutgers New Jersey Medical School

Camila K Janniger, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Specialty Editor Board

David F Butler, MD Section Chief of Dermatology, Central Texas Veterans Healthcare System; Professor of Dermatology, Texas A&M University College of Medicine; Founding Chair, Department of Dermatology, Scott and White Clinic

David F Butler, MD is a member of the following medical societies: American Medical Association, Alpha Omega Alpha, Association of Military Dermatologists, American Academy of Dermatology, American Society for Dermatologic Surgery, American Society for MOHS Surgery, Phi Beta Kappa

Disclosure: Nothing to disclose.

Paul Krusinski, MD Director of Dermatology, Fletcher Allen Health Care; Professor, Department of Internal Medicine, University of Vermont College of Medicine

Paul Krusinski, MD is a member of the following medical societies: American Academy of Dermatology, American College of Physicians, Society for Investigative Dermatology

Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD Professor and Chairman, Department of Dermatology and Dermatologic Surgery, Medical University of South Carolina College of Medicine

Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Additional Contributors

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, Royal Society of Medicine, Women's Dermatologic Society, American Medical Association, Society for Investigative Dermatology

Disclosure: Nothing to disclose.

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Nail of a patient the nail-patella syndrome.
 
 
 
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