Milroy Disease Workup

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

Laboratory Studies

  • None
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Imaging Studies

  • Ultrasound of the leg can exclude vascular abnormalities such as arteriovenous fistula.
  • Plain radiographs can exclude abnormalities of the bone.
  • After a subcutaneous injection of dye, lymphangiography of patients with Milroy disease shows lymphatic vessels that cannot be cannulated.
  • Lymphoscintigraphy using the subcutaneous injection of technetium-labeled colloid demonstrates an absence of lymphatic vessels.
  • Fluorescence microlymphography using a light fluorescence microscope following subepidermal infection of FITC-dextran 150,000 demonstrates a lack of microlymphatics.[12]
  • MRI can also be used; however, it is more useful to show lymph trunk anatomy and causes of obstructive secondary lymphedema.
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Procedures

  • Biopsy of the skin is performed using standard techniques. A 25-gauge needle is used to infiltrate the skin with local anesthesia. The skin is stretched perpendicular to the desired line of the scar. A punch biopsy tool is rotated into the skin to obtain a small circle of tissue, which is sent to pathology for histologic staining. Bleeding is controlled by the application of pressure to the area or by the use of a single suture. Topical antibiotics applied twice daily speed wound healing.
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Histologic Findings

Early in the disease, lymphatic vessels are conspicuously absent upon biopsy. Late in the disease, histology shows lymphangiectasia and fibrosis involving the subcutaneous skin.

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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.

References

  1. Levinson KL, Feingold E, Ferrell RE, Glover TW, Traboulsi EI, Finegold DN. Age of onset in hereditary lymphedema. J Pediatr. Jun 2003;142(6):704-8. [Medline].

  2. Dahlberg PJ, Borer WZ, Newcomer KL, Yutuc WR. Autosomal or X-linked recessive syndrome of congenital lymphedema, hypoparathyroidism, nephropathy, prolapsing mitral valve, and brachytelephalangy. Am J Med Genet. Sep 1983;16(1):99-104. [Medline].

  3. Wheeler ES, Chan V, Wassman R, Rimoin DL, Lesavoy MA. Familial lymphedema praecox: Meige's disease. Plast Reconstr Surg. Mar 1981;67(3):362-4. [Medline].

  4. Namnyak S, Adhami Z, Toms G, Jenks P. Pasteurella multocida septicaemia in Milroy's disease. J Infect. Sep 1995;31(2):175-6. [Medline].

  5. Irrthum A, Karkkainen MJ, Devriendt K, Alitalo K, Vikkula M. Congenital hereditary lymphedema caused by a mutation that inactivates VEGFR3 tyrosine kinase. Am J Hum Genet. Aug 2000;67(2):295-301. [Medline].

  6. Butler MG, Dagenais SL, Rockson SG, Glover TW. A novel VEGFR3 mutation causes Milroy disease. Am J Med Genet A. Jun 1 2007;143A(11):1212-7. [Medline].

  7. Evans AL, Brice G, Sotirova V, Mortimer P, Beninson J, Burnand K, et al. Mapping of primary congenital lymphedema to the 5q35.3 region. Am J Hum Genet. Feb 1999;64(2):547-55. [Medline].

  8. Connell F, Brice G, Mortimer P. Phenotypic characterization of primary lymphedema. Ann N Y Acad Sci. 2008;1131:140-6. [Medline].

  9. Offori TW, Platt CC, Stephens M, Hopkinson GB. Angiosarcoma in congenital hereditary lymphoedema (Milroy's disease)--diagnostic beacons and a review of the literature. Clin Exp Dermatol. Mar 1993;18(2):174-7. [Medline].

  10. Ghalamkarpour A, Morlot S, Raas-Rothschild A, Utkus A, Mulliken JB, Boon LM, et al. Hereditary lymphedema type I associated with VEGFR3 mutation: the first de novo case and atypical presentations. Clin Genet. Oct 2006;70(4):330-5. [Medline].

  11. Wu JJ, Wagner AM. Verruciform xanthoma in association with milroy disease and leaky capillary syndrome. Pediatr Dermatol. Jan-Feb 2003;20(1):44-7. [Medline].

  12. Bollinger A, Amann-Vesti BR. Fluorescence microlymphography: diagnostic potential in lymphedema and basis for the measurement of lymphatic pressure and flow velocity. Lymphology. Jun 2007;40(2):52-62. [Medline].

  13. Karkkainen MJ, Saaristo A, Jussila L, Karila KA, Lawrence EC, Pajusola K, et al. A model for gene therapy of human hereditary lymphedema. Proc Natl Acad Sci U S A. Oct 23 2001;98(22):12677-82. [Medline].

  14. Albornoz MA, Myers AR. Recurrent septic arthritis and Milroy's disease. J Rheumatol. Nov 1988;15(11):1726-8. [Medline].

  15. American Medical Association. William Forsyth Milroy (1855-1942): hereditary edema of the lower legs. JAMA. Apr 8 1968;204(2):166. [Medline].

  16. Baginski D, Telang GH, Koblenzer PJ. Answers to Self-Assessment Examination of the American Academy of Dermatology. J Am Acad Dermatol. 1997;37:146-7.

  17. Bollinger A. Microlymphatics of human skin. Int J Microcirc Clin Exp. Feb 1993;12(1):1-15. [Medline].

  18. Bollinger A, Isenring G, Franzeck UK, Brunner U. Aplasia of superficial lymphatic capillaries in hereditary and connatal lymphedema (Milroy's disease). Lymphology. Mar 1983;16(1):27-30. [Medline].

  19. Broström LA, Nilsonne U, Kronberg M, Söderberg G. Lymphangiosarcoma in chronic hereditary oedema (Milroy's disease). Ann Chir Gynaecol. 1989;78(4):320-3. [Medline].

  20. Cohen SR, Payne DK, Tunkel RS. Lymphedema: strategies for management. Cancer. Aug 15 2001;92(4 Suppl):980-7. [Medline].

  21. Edwards EA. Cutaneous Changes in Peripheral Vascular Disease. In: Fitzpatrick T, Eisen A, Wolff K, Freedberg I, Austen KF, eds. Dermatology in General Medicine. 2nd ed. New York, NY: McGraw-Hill; 1979:1392-5.

  22. Ersek RA, Danese CA, Howard JM. Hereditary congenital lymphedema (Milroy's disease). Surgery. Nov 1966;60(5):1098-103. [Medline].

  23. Farhud DD, Farhud I, Walizadeh GR, Djaber-Ansari M. Congenital hereditary lymphedema (Nonne/Milroy). Padiatr Padol. 1989;24(4):305-7. [Medline].

  24. Ferrell RE, Levinson KL, Esman JH, Kimak MA, Lawrence EC, Barmada MM, et al. Hereditary lymphedema: evidence for linkage and genetic heterogeneity. Hum Mol Genet. Dec 1998;7(13):2073-8. [Medline].

  25. From L. Vascular Neoplasms, Pseudoneooplasms and Hyperplasias. In: Fitzpatrick T, Eisen A, Wolff K, Freedberg I, Austen KF, eds. Dermatology in General Medicine. 2nd ed. New York, NY: McGraw-Hill; 1979:736-7.

  26. Gregl A, von Heyden D, Jentsch F, Yu D. [Primary lymphedema]. Z Lymphol. Jul 1983;7(1):21-8. [Medline].

  27. Margileth A. Dermatologic Conditions Neonatology. In: Avert GB, ed. Pathophysiology and Management of the Newborn. 3rd ed. Philadelphia, Pa: JB Lippincott; 1987:1253-4.

  28. Mehta SD, Robinson RJ, Bern SA. Pedal manifestations of Milroy's disease. J Am Podiatr Med Assoc. Aug 1996;86(8):400-2. [Medline].

  29. Offret H, Labrune B. [Primary conjunctival-palpebral lymphedema and Milroy disease]. J Fr Ophtalmol. 1994;17(11):679-82. [Medline].

  30. Pap Z, Biró T, Szabó L, Papp Z. Syndrome of lymphoedema and distichiasis. Hum Genet. 1980;53(3):309-10. [Medline].

  31. Partsch H, Urbanek A, Wenzel-Hora B. The dermal lymphatics in lymphoedema visualized by indirect lymphography. Br J Dermatol. Apr 1984;110(4):431-8. [Medline].

  32. Rock A, Camitta BM. The Lymphatic System. In: Behrman RE, Kliegman RM, Jensen HB, eds. Nelson Textbook of Pediatrics. 16th ed. Philadelphia, Pa: WB Saunders; 2000:1528.

  33. Ryan TJ, Champion RH. Disorders of Lymphatic Vessels. In: Champion RH, Ebling FJG, Burton JL, eds. Textbook of Dermatology. 5th ed. Oxford, England: Oxford Blackwell Scientific; 1992:2018-23.

  34. Sigstad H, Aagenaes O, Bjorn-Hansen RW, Rootwelt K. Primary lymphoedema combined with hereditary recurrent intrahepatic cholestasis. Acta Med Scand. Sep 1970;188(3):213-9. [Medline].

  35. St Louis JD, McCann RL. Lymphatic System. In: Townsend CM Jr, ed. Sabiston Textbook of Surgery. 16th ed. Philadelphia, Pa: WB Saunders; 2001:1446-51.

  36. Tiwari A, Cheng KS, Button M, Myint F, Hamilton G. Differential diagnosis, investigation, and current treatment of lower limb lymphedema. Arch Surg. Feb 2003;138(2):152-61. [Medline].

 
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Lymphatic system, anterior view.
 
 
 
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