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Dermatologic Manifestations of Nail-Patella Syndrome Clinical Presentation

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


The correct diagnosis is rarely established during childhood because the nail and patella abnormalities may not become apparent until later in life.

The first symptom that usually causes the patient to seek medical care is knee pain or an inability to completely extend the knee joint. The patellae may be hypoplastic or absent, and they are frequently dislocated.[28]

Limitation of elbow motion or subluxation of the radius often occurs as a result of hypoplasia of the radial head. Other joints tend to be hyperflexible.

Renal involvement may result in proteinuria, hematuria, and recurrent urinary tract infections.[29, 30]

Cutaneous manifestations are nail changes that involve mainly the thumbs and progressively decrease in severity in the second to fifth fingers.

Patients often complain of palmoplantar hyperhidrosis.[31]



Nail dysplasia and patellar hypoplasia are essential findings for diagnosis. Other diagnostic features are hypoplasia of the radial head and iliac prominences, which are known as iliac horns.[32, 33] Renal complications and ophthalmologic problems can accompany nail-patella syndrome.[34]


Patients have different degrees of nail dysplasia. The nails, especially those on the thumbs, are typically absent or short and never reach the free edge of the finger. Nail dysplasia, a typical feature, is more severe on the ulnar side than on the radial side.[35] The toenails are rarely affected.

Other nail abnormalities in patients with nail-patella syndrome include splitting, longitudinal ridging, koilonychia, poor lunula formation, and discoloration.[36]

In the absence of other nail changes, V-shaped triangular lunulae with a distal peak in the midline are pathognomonic for nail-patella syndrome.[37, 38]

Bones and joints

Patellar involvement is present in approximately 90% of patients; however, patellar aplasia occurs in only 20%. Isolated unilateral absent patella and contralateral small patella have been reported.[39] In instances in which the patellae are smaller or luxated, the knees may be unstable. Synovial band preventing the engagement of the patella into the trochlear groove has been described.[40]

The elbows may have limited motion (eg, limited pronation, supination, extension). Subluxation of the radial head may occur. Arthrodysplasia of the elbows is reported in approximately 90% of patients.

General hyperextension of the joints can be present.

Exostoses arising from the posterior aspect of the iliac bones are present in as many as 80% of patients; this finding is considered pathognomonic for the syndrome and can be observed by ultrasound scan from the third trimester of pregnancy.

Other reported bone changes include scoliosis, scapular hypoplasia, genu valgum, club feet and the presence of cervical ribs.[41]

Kidneys [42, 43]

Renal disorders may result in only asymptomatic proteinuria, although hematuria, nephrotic syndrome,[44, 45] and progression to renal failure have been observed.[30]

Ankle edema and recurrent urinary tract infections can also be manifestations of renal involvement.

Nephropathy is the only manifestation of nail-patella syndrome in some cases.


Hyperpigmentation of the pupillary margin of the iris, the Lester iris, occurs in 45% of patients with nail-patella syndrome. This can be a helpful diagnostic sign.

Other abnormalities, such as heterochromia of the iris with cloverleaf deformity, cataracts, microcornea, and glaucoma, have also been reported.[46]


Skin laxity may be present. Webbing of the elbows and absent skin creases in the distal parts of the fingers are described in some patients.[47] A case of coexisting ectopic cilia and nail-patella syndrome in one patient has been described.[48]



The mechanisms underlying the different manifestations and severity of the symptoms in this disorder remain uncertain.

Nail-patella syndrome is known to be an autosomal dominant hereditary disease. A genetic abnormality is believed to lead to altered connective tissue metabolism with widespread structural defects in collagen.

Abnormal collagen deposition in the glomeruli probably causes the nephropathy associated with nail-patella syndrome.

Contributor Information and Disclosures

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.


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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