Milroy Disease Clinical Presentation

  • Author: Raphael J Kiel, MD; Chief Editor: Zab Mosenifar, MD   more...
 
Updated: Oct 14, 2010
 

History

  • Edema occurs at birth and is firm to the touch, although pitting may occur with pressure. The temperature of the overlying skin is increased.
  • The right lower extremity is preferentially involved. Generally, the edema involves the dorsum of the foot and does not extend beyond the level of the knee.
  • Patients may also present with recurrent cellulitis, papillomatosis, large caliber leg veins, and upsloping "ski-jump" toenails.[10]
  • Hydrocele was the second most common presentation after edema in males.
  • Usually, several other family members have a history of congenital lymphedema.
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Physical

  • Brawny edema of a lower extremity is present at birth but usually does not extend above the knee. As the edema becomes chronic, a woody feel to the tissue may develop, signaling progressive tissue fibrosis.
  • Hemorrhagic verruciform xanthoma is described on the dorsum of the toes.[11]
  • The overlying skin often exhibits a rosy hue.
  • Patients may have involvement of the external genitalia as a result of associated lymphatic abnormalities, and some may have a cystic hygroma of the neck.
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Causes

  • The cause of Milroy disease is classically thought to be due to the failure of lymphatic vessels to develop in utero. Failure of functional lymphatics may also play a role in the development of edema.
  • Lymphatic drainage appears to be completely normal in the upper limbs.
  • On a cellular level, Milroy disease has been related to defective VEGFR3 signaling mapped to a part of chromosome arm 5q. This region codes for a tyrosine kinase receptor specific for the function of the lymphatic vessels.
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Contributor Information and Disclosures
Author

Raphael J Kiel, MD  Associate Professor of Medicine, Wayne State University School of Medicine; Associate Professor of Medicine, Oakland University William Beaumont School of Medicine; Consulting Staff, Infectious Diseases Division, William Beaumont Hospital; Consulting Staff, Infectious Diseases Division Providence Hospital

Raphael J Kiel, MD is a member of the following medical societies: American College of Physicians-American Society of Internal Medicine and American Geriatrics Society

Disclosure: Nothing to disclose.

Specialty Editor Board

Sat Sharma, MD, FRCPC  Professor and Head, Division of Pulmonary Medicine, Department of Internal Medicine, University of Manitoba; Site Director, Respiratory Medicine, St Boniface General Hospital

Sat Sharma, MD, FRCPC is a member of the following medical societies: American Academy of Sleep Medicine, American College of Chest Physicians, American College of Physicians-American Society of Internal Medicine, American Thoracic Society, Canadian Medical Association, Royal College of Physicians and Surgeons of Canada, Royal Society of Medicine, Society of Critical Care Medicine, and World Medical Association

Disclosure: Nothing to disclose.

Francisco Talavera, PharmD, PhD  Senior Pharmacy Editor, eMedicine

Disclosure: eMedicine Salary Employment

Gregg T Anders, DO  Medical Director, Great Plains Regional Medical Command , Brooke Army Medical Center; Clinical Associate Professor, Department of Internal Medicine, Division of Pulmonary Disease, University of Texas Health Science Center at San Antonio

Gregg T Anders, DO is a member of the following medical societies: American College of Chest Physicians, American College of Physicians, and American Thoracic Society

Disclosure: Nothing to disclose.

Timothy D Rice, MD  Associate Professor, Departments of Internal Medicine and Pediatrics and Adolescent Medicine, St Louis University School of Medicine

Timothy D Rice, MD is a member of the following medical societies: American Academy of Pediatrics and American College of Physicians

Disclosure: Nothing to disclose.

Chief Editor

Zab Mosenifar, MD  Director, Division of Pulmonary and Critical Care Medicine, Director, Women's Guild Pulmonary Disease Institute, Executive Vice Chair, Department of Medicine, Cedars Sinai Medical Center; Professor of Medicine, David Geffen School of Medicine at UCLA

Zab Mosenifar, MD is a member of the following medical societies: American College of Chest Physicians, American College of Physicians, American Federation for Medical Research, and American Thoracic Society

Disclosure: Nothing to disclose.

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Lymphatic system, anterior view.
 
 
 
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