ContentsSynopsisCodesLook ForDiagnostic PearlsDifferential Diagnosis & PitfallsBest TestsManagement PearlsTherapyReferencesView all Images (7)
Congenital lymphedema in Infant/Neonate
Print
Other Resources UpToDate PubMed

Congenital lymphedema in Infant/Neonate

Print Images (7)
Contributors: Zizi Yu, Susan Burgin MD
Other Resources UpToDate PubMed

Synopsis

Lymphedema refers to the abnormal accumulation of protein-rich interstitial fluid secondary to lymphatic dysfunction. Primary forms of lymphedema are due to developmental abnormalities of the lymphatic system and include congenital lymphedema (Milroy disease; present at birth or soon after), lymphedema praecox (Meige disease; onset typically in teenage years), and lymphedema tarda (onset after age 30).

Congenital lymphedema is caused by a mutation in the FLT4 gene, which encodes the vascular endothelial growth factor receptor 3 (VEGFR-3), that leads to aplasia or hypoplasia of lymphatic channels. It is inherited in an autosomal dominant fashion and presents with lymphedema that develops before the age of 2. It is typically present from birth or shortly thereafter and may be either bilateral or asymmetric. At first, the dorsal feet are edematous. As the child grows, this may progressively involve the entire lower leg. The degree and distribution of the edema can vary widely from case to case, even among individuals of the same family.

Lymphedema does not usually affect longevity, and serious complications of lymphedema are rare, but lasting and/or bothersome cosmetic imperfections are experienced, as well as functional impairment. Complications include recurrent cellulitis, lymphangitis, and deep venous thrombosis. People with chronic lymphedema have a higher risk of developing lymphangiosarcoma, a highly aggressive angiosarcoma with poor prognosis.

Other associations include hydrocele and urethral abnormalities in males, such as urethral stricture or hypospadias. Prominent lower extremity veins and hemangiomas may be seen.

Atypical presentations of Milroy disease secondary to de novo VEGFR-3 mutations may include prenatal pleural effusion, spontaneous resorption of lymphedema, and elephantiasis.

The overall prevalence is unknown.

Codes

ICD10CM:
Q82.0 – Hereditary lymphedema

SNOMEDCT:
399889006 – Hereditary lymphedema type I

Look For

Subscription Required

Diagnostic Pearls

Subscription Required

Differential Diagnosis & Pitfalls

Lymphedema may be a recognized feature of many syndromes, most commonly:
If there is systemic or visceral involvement with pre- or postnatal onset:
  • Multisegmental lymphatic dysplasia with systemic involvement
  • Generalized lymphatic dysplasia (Hennekam syndrome)
With disturbed growth, cutaneous manifestations, or vascular anomalies:
With late onset of lymphedema after age 1 year:
  • Hypotrichosis-lymphedema-telangiectasia syndrome 
  • Lymphedema-distichiasis syndrome
  • Meige disease 
  • Late onset unilateral / unisegmental lymphedema
  • Late onset multisegmental lymphedema
  • Yellow nail syndrome

Best Tests

Subscription Required

Management Pearls

Subscription Required

Therapy

Subscription Required

References

Subscription Required

Last Reviewed: 06/14/2017
Last Updated: 06/20/2017
Copyright © 2018 VisualDx®. All rights reserved.
Congenital lymphedema in Infant/Neonate
Print 7 Images
View all Images (7)
(with subscription)
Congenital lymphedema : Pleural effusion, Scrotal swelling, Swollen feet, Peripheral leg edema
Clinical image of Congenital lymphedema
Copyright © 2018 VisualDx®. All rights reserved.