eMedicine Specialties > Dermatology > Internal Medicine

LEOPARD Syndrome: Differential Diagnoses & Workup

Author: Sergiusz Jozwiak, MD, PhD, Head, Professor, Department of Child Neurology, The Children's Memorial Health Institute of Warsaw, Poland
Coauthor(s): Robert A Schwartz, MD, MPH, Professor and Head of Dermatology, Professor of Medicine, Professor of Pediatrics, Professor of Pathology, Professor of Preventive Medicine and Community Health, UMDNJ-New Jersey Medical School
Contributor Information and Disclosures

Updated: Jan 7, 2009

Differential Diagnoses

Albright Syndrome
Carney Syndrome
Ephelides (Freckles)
Lentigo
Neurofibromatosis

Other Problems to Be Considered

Noonan syndrome
Peutz-Jeghers syndrome
Nevi-atrial myxoma-myxoid neurofibromata-ephelides (NAME or LAMB) syndrome
Centrofacial lentiginosis

Workup

Laboratory Studies

  • In some patients with endocrine abnormalities, low levels of follicle-stimulating hormone, luteinizing hormone, and thyrotropin and elevated levels of 17-hydroxy and 17-ketosteroids have been revealed.

Imaging Studies

  • CT scanning or MRI of the head may reveal brain atrophy.
  • Skeletal radiography is indicated for detection of skeletal malformations or for bone age assessment.
  • Echocardiography should be done for visualization of structural heart abnormalities (eg, pulmonary valve stenosis, obstructive cardiomyopathy, myxomas).
  • Assessment of the genitourinary system may require abdominal ultrasonography or urographic examination.

Other Tests

  • Perform electrocardiography to exclude conduction abnormalities, which are reported in about one third of the patients. The most common electrocardiographic changes are left axis deviation, prolonged PR intervals, and right bundle branch block. Due to possible arrhythmia, ECG is especially mandatory before all planned surgical interventions.
  • Due to possible arrhythmia, ECG is mandatory before all planned surgical interventions.
  • EEG is recommended for patients with seizures.
  • Sensorineural deafness may be detected by audiography or auditory evoked potentials.

Histologic Findings

Biopsy of a lentigo reveals an increased number of melanocytes per unit skin area and prominent rete ridges. Electron microscopic examination reveals large accumulations of melanosomes within the Langerhans cells and giant melanosomes. The latter were reported both in normal and pigmented skin in patients with the LEOPARD syndrome; they are also found in patients with neurofibromatosis and nevus spilus.

More on LEOPARD Syndrome

Overview: LEOPARD Syndrome
Differential Diagnoses & Workup: LEOPARD Syndrome
Treatment & Medication: LEOPARD Syndrome
Follow-up: LEOPARD Syndrome
Multimedia: LEOPARD Syndrome
References
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References

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Further Reading

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Keywords

LEOPARD syndrome, cardiocutaneous lentiginosis syndrome, multiple lentigines syndrome, generalized lentiginosis, centrofacial lentiginosis, lentiginosis profusa syndrome, lentiginosis-deafness-cardiopathy syndrome, cardiocutaneous syndrome, progressive cardiomyopathic lentiginosis, Moynahan syndrome, OMIM 151100

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Contributor Information and Disclosures

Author

Sergiusz Jozwiak, MD, PhD, Head, Professor, Department of Child Neurology, The Children's Memorial Health Institute of Warsaw, Poland
Sergiusz Jozwiak, MD, PhD is a member of the following medical societies: Sigma Xi
Disclosure: Nothing to disclose.

Coauthor(s)

Robert A Schwartz, MD, MPH, Professor and Head of Dermatology, Professor of Medicine, Professor of Pediatrics, Professor of Pathology, Professor of Preventive Medicine and Community Health, UMDNJ-New Jersey Medical School
Robert A Schwartz, MD, MPH is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, American College of Physicians, and Sigma Xi
Disclosure: Nothing to disclose.

Medical Editor

James J Nordlund, MD, Professor Emeritus, Department of Dermatology, University of Cincinnati College of Medicine
James J Nordlund, MD is a member of the following medical societies: American Academy of Dermatology, Sigma Xi, and Society for Investigative Dermatology
Disclosure: Nothing to disclose.

Pharmacy Editor

Richard P Vinson, MD, Assistant Clinical Professor, Department of Dermatology, Texas Tech University School of Medicine; Consulting Staff, Mountain View Dermatology, PA
Richard P Vinson, MD is a member of the following medical societies: American Academy of Dermatology, Association of Military Dermatologists, Texas Dermatological Society, and Texas Medical Association
Disclosure: Nothing to disclose.

Managing Editor

Jeffrey Meffert, MD, Assistant Clinical Professor of Dermatology, University of Texas Health Science Center-San Antonio
Jeffrey Meffert, MD is a member of the following medical societies: American Academy of Dermatology, American Medical Association, Association of Military Dermatologists, and Texas Dermatological Society
Disclosure: Nothing to disclose.

CME Editor

Catherine Quirk, MD, Clinical Assistant Professor, Department of Dermatology, Brown University
Catherine Quirk, MD is a member of the following medical societies: Alpha Omega Alpha and American Academy of Dermatology
Disclosure: Nothing to disclose.

Chief Editor

Dirk M Elston, MD, Director, Department of Dermatology, Geisinger Medical Center
Dirk M Elston, MD is a member of the following medical societies: American Academy of Dermatology
Disclosure: Nothing to disclose.

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