PATIENT PRESENTATION
A 21-year-old female with no significant medical history presented to the emergency room with a 1-day history of spontaneous leaking of a white substance on her leg.
She noted several years of the affected leg being slightly larger than the unaffected leg. She denied any history of this occurring before and any trauma or previous surgery at the site. However, 1 year previously, she was admitted to the hospital for a burning sensation in the same area of the affected leg. She was treated for presumed cellulitis with oral antibiotics and was subsequently discharged. Until the day she presented to the ER, she had had no problems with her leg.
Review of systems was negative for fever, chills, joint pain or rash. She wore the same shoe size on both feet. She denied any history of scoliosis. She was otherwise healthy, took no medications, had no known drug allergies and denied drinking alcohol, smoking or illicit drug use. She denied any family history of similar leg swelling.
Initial evaluation revealed a right leg that appeared larger than the left leg. Closer examination revealed spontaneous drainage of a white milky substance from the right middle anterior thigh. Faint subcutaneous dilated vessel-like structures about 5 cm long and 3 mm wide ending at 2 discrete drainage points were also noted. There was no surrounding erythema or pain with palpation.
DIAGNOSIS: PRIMARY LYMPHEDEMA WITH LYMPHORRHEA
Lymphedema is the chronic progressive swelling of the tissue by inadequate lymphatic function. Lymphedematous tissue slowly enlarges over time because of the accumulation of subcutaneous lymph, which stimulates adipose deposition and fibrosis. Complications of lymphedema include infection, functional disability, chronic cutaneous changes and psychosocial morbidity.1
Clinical Presentation
Lymphedema can be divided into primary and secondary lymphedema based on etiology. Maldevelopment of the lymphatic system results in primary lymphedema, while injury to the lymphatic system results in secondary lymphedema. In general, secondary lymphedema is far more common than primary. Primary lymphedema can be further divided according to symptom onset. Milroy’s disease is congenital lymphedema that is present at birth. Lymphedema praecox, also known as Meige’s disease, is primary lymphedema that begins in adolescence. Late-onset lymphedema (lymphedema tarda) begins in adulthood, usually after 35 years of age. Primary lymphedema is rare, affecting 1.2 per 100,000 persons younger than 20 years.2
Lymphorrhea is defined as the leakage of lymph onto the skin. It is a known potential complication of primary lymphedema. Lymphorrhea most often occurs after surgery, specifically lymph node dissection, which results in trauma to the lymphatic system. Lymphorrhea poses a real threat, as it is very caustic to the skin and can cause recurrent infections.
Lymphorrhea in the setting of lymphedema has been reported but no case reports of spontaneous lymphorrhea have been published. Our patient denied any antecedent trauma that might have precipitated this spontaneous drainage of lymph.
Pathophysiology
Primary lymphedema is the result of overproduction or decreased removal of lymph, which causes stasis. Maldevelopment of the lymphatic system may contribute to primary lymphedema but it is not the only cause. Some patients with primary lymphedema have completely normal lymphangiograms, while people with normal limbs can have abnormal ones. Static lymph fluid can cause inflammation and tissue fibrosis, which may result in verrucous changes of the overlying skin.3
Pathology and Special Studies
Imaging for lymphedema includes lymphangiograms and venograms. Biopsies are sometimes done. However, these additional tests are often unnecessary, as the diagnosis is made clinically.
Genetics
Several genes have been implicated in the development of primary lymphedema. VEGFR3 mutations have been linked to Nonne-Milroy syndrome. FOXC2 mutations have been found in families with Meige syndrome. Finally, SOX18 mutations have been identified in hypotrichosis-lymphedema-telangiectasia syndrome.3
Treatment and Prognosis
Treatment of lymphedema is often cumbersome and lifelong. The goal of conservative therapy is to prevent lymph fluid stagnation and to restore normal lymphatic circulation. Patient compliance is essential to the prevention of the numerous complications of lymphedema. The majority of compliant patients can be treated successfully with conservative measures. Good hygiene, weight loss, compression stockings and pneumatic compression devices have all shown to be somewhat helpful.4,5 For more severe cases, or for lymphedema involving the genitalia, more aggressive surgical correction with lymphaticovenular anastomoses may be undertaken.6
Several recent studies have addressed potential therapies for lymphorrhea, including collagen powder7, octreotide8 and negative pressure wound therapy.9 The use of sclerotherapy has also been explored.10,11 However, all of these studies are limited to the treatment of post-operative lymphorrhea.
In general, conservative therapy is recommended. Surgical intervention is reserved for severe cases. Complications of surgical intervention include massive ischemic necrosis requiring amputation. Patient compliance is key to the successful management of this chronic condition. In addition to lymphorrhea, complications of lymphedema include recurrent cellulitis, deep vein thrombosis, elephantiasis nostras, lymphangiosarcoma and amputation. Currently, there is no cure for lymphedema.
Studies in our patient, including complete blood count and comprehensive metabolic panel, were within normal limits. CT scan with contrast showed reactive lymph nodes without any evidence of soft tissue abnormalities. The patient was asked to wear compression tights daily. A 6-week course of imiquimod 5% cream yielded no improvement in the continuous drainage of fluid. The patient was subsequently lost to follow-up.
Conclusion
Patients who present with lymphedema must first be classified as having primary or secondary lymphedema. Early treatment of lymphedema is essential to preventing complications like lymphorrhea. Lymph fluid is highly caustic to the skin and may cause permanent ulcerations.
Dr. Gaines-Cardone is with the Dermatology Center of Stamford in Stamford, CT. She is also an assistant clinical professor at Columbia University in New York, NY.
Dr. Khachemoune, the Section Editor of Derm DX, is with the Department of Dermatology at the State University of New York Downstate in Brooklyn, NY.
Disclosures: The authors have no conflicts of interest to report.
References
1. Smeltzer DM, Stickler GB, Schirger A. Primary lymphedema in children and adolescents: A follow-up study and review. Pediatrics. 1985;76(2):206-218.
2. Zuther JE. Lymphedema Management: The Comprehensive Guide for Practitioners. 2nd ed. New York, NY: Thieme; 2009.
3. Bolognia JL, Jorizzo JL, Rapini RP, eds. Dermatology. 2nd ed. St. Louis (MO): Mosby Elsevier; 2008.
4. Mayrovitz HN. The standard of care for lymphedema: Current concepts and physiological considerations. Lymphat Res Biol. 2009;7(2):101-108.
5. Brennan MJ, Miller LT. Overview of treatment options and review of the current role and use of compression garments, intermittent pumps and exercise in the management of lymphedema. Cancer. 1998;83(12 Suppl American):2821-2827.
6. Narushima M, Mihara M, Yamamoto Y, Iida T, Koshima I, Mundinger GS. The intravascular stenting method for treatment of extremity lymphedema with multiconfiguration lymphaticovenous anastomoses. Plast Reconstr Surg. 2010;125(3):935-943.
7. Stafyla V, Dimakakos E, Koureas A, et al. Effect of collagen powder on lymphorrhea after modified radical mastectomy. A randomized controlled trial. Eur J Gynaecol Oncol. 2011;32(2):185-187.
8. Kim WT, Ham WS, Koo KC, Choi YD. Efficacy of octreotide for management of lymphorrhea after pelvic lymph node dissection in radical prostatectomy. Urology. 2010;76(2):398-401.
9. Klode J, Klötgen K, Körber A, Schadendorf D, Dissemond J. Polidocanol foam sclerotherapy is a new and effective treatment for post-operative lymphorrhea and lymphocele. J Eur Acad Dermatol Venereol. 2010;24(8):904-909.
10. Abai B, Zickler RW, Pappas PJ, Lal BK, Padberg FT Jr. Lymphorrhea responds to negative pressure wound therapy. J Vasc Surg. 2007;45(3):610-613.
11. Michail PO, Griniatsos J, Kargakou M, Michail OP, Papadopoulos O, Bastounis E. Treatment of persistent lymphorrhea using bleomycin sclerotherapy. Plast Reconstr Surg. 2001;107(3):890-891.
PATIENT PRESENTATION
A 21-year-old female with no significant medical history presented to the emergency room with a 1-day history of spontaneous leaking of a white substance on her leg.
She noted several years of the affected leg being slightly larger than the unaffected leg. She denied any history of this occurring before and any trauma or previous surgery at the site. However, 1 year previously, she was admitted to the hospital for a burning sensation in the same area of the affected leg. She was treated for presumed cellulitis with oral antibiotics and was subsequently discharged. Until the day she presented to the ER, she had had no problems with her leg.
Review of systems was negative for fever, chills, joint pain or rash. She wore the same shoe size on both feet. She denied any history of scoliosis. She was otherwise healthy, took no medications, had no known drug allergies and denied drinking alcohol, smoking or illicit drug use. She denied any family history of similar leg swelling.
Initial evaluation revealed a right leg that appeared larger than the left leg. Closer examination revealed spontaneous drainage of a white milky substance from the right middle anterior thigh. Faint subcutaneous dilated vessel-like structures about 5 cm long and 3 mm wide ending at 2 discrete drainage points were also noted. There was no surrounding erythema or pain with palpation.
DIAGNOSIS: PRIMARY LYMPHEDEMA WITH LYMPHORRHEA
Lymphedema is the chronic progressive swelling of the tissue by inadequate lymphatic function. Lymphedematous tissue slowly enlarges over time because of the accumulation of subcutaneous lymph, which stimulates adipose deposition and fibrosis. Complications of lymphedema include infection, functional disability, chronic cutaneous changes and psychosocial morbidity.1
Clinical Presentation
Lymphedema can be divided into primary and secondary lymphedema based on etiology. Maldevelopment of the lymphatic system results in primary lymphedema, while injury to the lymphatic system results in secondary lymphedema. In general, secondary lymphedema is far more common than primary. Primary lymphedema can be further divided according to symptom onset. Milroy’s disease is congenital lymphedema that is present at birth. Lymphedema praecox, also known as Meige’s disease, is primary lymphedema that begins in adolescence. Late-onset lymphedema (lymphedema tarda) begins in adulthood, usually after 35 years of age. Primary lymphedema is rare, affecting 1.2 per 100,000 persons younger than 20 years.2
Lymphorrhea is defined as the leakage of lymph onto the skin. It is a known potential complication of primary lymphedema. Lymphorrhea most often occurs after surgery, specifically lymph node dissection, which results in trauma to the lymphatic system. Lymphorrhea poses a real threat, as it is very caustic to the skin and can cause recurrent infections.
Lymphorrhea in the setting of lymphedema has been reported but no case reports of spontaneous lymphorrhea have been published. Our patient denied any antecedent trauma that might have precipitated this spontaneous drainage of lymph.
Pathophysiology
Primary lymphedema is the result of overproduction or decreased removal of lymph, which causes stasis. Maldevelopment of the lymphatic system may contribute to primary lymphedema but it is not the only cause. Some patients with primary lymphedema have completely normal lymphangiograms, while people with normal limbs can have abnormal ones. Static lymph fluid can cause inflammation and tissue fibrosis, which may result in verrucous changes of the overlying skin.3
Pathology and Special Studies
Imaging for lymphedema includes lymphangiograms and venograms. Biopsies are sometimes done. However, these additional tests are often unnecessary, as the diagnosis is made clinically.
Genetics
Several genes have been implicated in the development of primary lymphedema. VEGFR3 mutations have been linked to Nonne-Milroy syndrome. FOXC2 mutations have been found in families with Meige syndrome. Finally, SOX18 mutations have been identified in hypotrichosis-lymphedema-telangiectasia syndrome.3
Treatment and Prognosis
Treatment of lymphedema is often cumbersome and lifelong. The goal of conservative therapy is to prevent lymph fluid stagnation and to restore normal lymphatic circulation. Patient compliance is essential to the prevention of the numerous complications of lymphedema. The majority of compliant patients can be treated successfully with conservative measures. Good hygiene, weight loss, compression stockings and pneumatic compression devices have all shown to be somewhat helpful.4,5 For more severe cases, or for lymphedema involving the genitalia, more aggressive surgical correction with lymphaticovenular anastomoses may be undertaken.6
Several recent studies have addressed potential therapies for lymphorrhea, including collagen powder7, octreotide8 and negative pressure wound therapy.9 The use of sclerotherapy has also been explored.10,11 However, all of these studies are limited to the treatment of post-operative lymphorrhea.
In general, conservative therapy is recommended. Surgical intervention is reserved for severe cases. Complications of surgical intervention include massive ischemic necrosis requiring amputation. Patient compliance is key to the successful management of this chronic condition. In addition to lymphorrhea, complications of lymphedema include recurrent cellulitis, deep vein thrombosis, elephantiasis nostras, lymphangiosarcoma and amputation. Currently, there is no cure for lymphedema.
Studies in our patient, including complete blood count and comprehensive metabolic panel, were within normal limits. CT scan with contrast showed reactive lymph nodes without any evidence of soft tissue abnormalities. The patient was asked to wear compression tights daily. A 6-week course of imiquimod 5% cream yielded no improvement in the continuous drainage of fluid. The patient was subsequently lost to follow-up.
Conclusion
Patients who present with lymphedema must first be classified as having primary or secondary lymphedema. Early treatment of lymphedema is essential to preventing complications like lymphorrhea. Lymph fluid is highly caustic to the skin and may cause permanent ulcerations.
Dr. Gaines-Cardone is with the Dermatology Center of Stamford in Stamford, CT. She is also an assistant clinical professor at Columbia University in New York, NY.
Dr. Khachemoune, the Section Editor of Derm DX, is with the Department of Dermatology at the State University of New York Downstate in Brooklyn, NY.
Disclosures: The authors have no conflicts of interest to report.
References
1. Smeltzer DM, Stickler GB, Schirger A. Primary lymphedema in children and adolescents: A follow-up study and review. Pediatrics. 1985;76(2):206-218.
2. Zuther JE. Lymphedema Management: The Comprehensive Guide for Practitioners. 2nd ed. New York, NY: Thieme; 2009.
3. Bolognia JL, Jorizzo JL, Rapini RP, eds. Dermatology. 2nd ed. St. Louis (MO): Mosby Elsevier; 2008.
4. Mayrovitz HN. The standard of care for lymphedema: Current concepts and physiological considerations. Lymphat Res Biol. 2009;7(2):101-108.
5. Brennan MJ, Miller LT. Overview of treatment options and review of the current role and use of compression garments, intermittent pumps and exercise in the management of lymphedema. Cancer. 1998;83(12 Suppl American):2821-2827.
6. Narushima M, Mihara M, Yamamoto Y, Iida T, Koshima I, Mundinger GS. The intravascular stenting method for treatment of extremity lymphedema with multiconfiguration lymphaticovenous anastomoses. Plast Reconstr Surg. 2010;125(3):935-943.
7. Stafyla V, Dimakakos E, Koureas A, et al. Effect of collagen powder on lymphorrhea after modified radical mastectomy. A randomized controlled trial. Eur J Gynaecol Oncol. 2011;32(2):185-187.
8. Kim WT, Ham WS, Koo KC, Choi YD. Efficacy of octreotide for management of lymphorrhea after pelvic lymph node dissection in radical prostatectomy. Urology. 2010;76(2):398-401.
9. Klode J, Klötgen K, Körber A, Schadendorf D, Dissemond J. Polidocanol foam sclerotherapy is a new and effective treatment for post-operative lymphorrhea and lymphocele. J Eur Acad Dermatol Venereol. 2010;24(8):904-909.
10. Abai B, Zickler RW, Pappas PJ, Lal BK, Padberg FT Jr. Lymphorrhea responds to negative pressure wound therapy. J Vasc Surg. 2007;45(3):610-613.
11. Michail PO, Griniatsos J, Kargakou M, Michail OP, Papadopoulos O, Bastounis E. Treatment of persistent lymphorrhea using bleomycin sclerotherapy. Plast Reconstr Surg. 2001;107(3):890-891.
PATIENT PRESENTATION
A 21-year-old female with no significant medical history presented to the emergency room with a 1-day history of spontaneous leaking of a white substance on her leg.
She noted several years of the affected leg being slightly larger than the unaffected leg. She denied any history of this occurring before and any trauma or previous surgery at the site. However, 1 year previously, she was admitted to the hospital for a burning sensation in the same area of the affected leg. She was treated for presumed cellulitis with oral antibiotics and was subsequently discharged. Until the day she presented to the ER, she had had no problems with her leg.
Review of systems was negative for fever, chills, joint pain or rash. She wore the same shoe size on both feet. She denied any history of scoliosis. She was otherwise healthy, took no medications, had no known drug allergies and denied drinking alcohol, smoking or illicit drug use. She denied any family history of similar leg swelling.
Initial evaluation revealed a right leg that appeared larger than the left leg. Closer examination revealed spontaneous drainage of a white milky substance from the right middle anterior thigh. Faint subcutaneous dilated vessel-like structures about 5 cm long and 3 mm wide ending at 2 discrete drainage points were also noted. There was no surrounding erythema or pain with palpation.
DIAGNOSIS: PRIMARY LYMPHEDEMA WITH LYMPHORRHEA
Lymphedema is the chronic progressive swelling of the tissue by inadequate lymphatic function. Lymphedematous tissue slowly enlarges over time because of the accumulation of subcutaneous lymph, which stimulates adipose deposition and fibrosis. Complications of lymphedema include infection, functional disability, chronic cutaneous changes and psychosocial morbidity.1
Clinical Presentation
Lymphedema can be divided into primary and secondary lymphedema based on etiology. Maldevelopment of the lymphatic system results in primary lymphedema, while injury to the lymphatic system results in secondary lymphedema. In general, secondary lymphedema is far more common than primary. Primary lymphedema can be further divided according to symptom onset. Milroy’s disease is congenital lymphedema that is present at birth. Lymphedema praecox, also known as Meige’s disease, is primary lymphedema that begins in adolescence. Late-onset lymphedema (lymphedema tarda) begins in adulthood, usually after 35 years of age. Primary lymphedema is rare, affecting 1.2 per 100,000 persons younger than 20 years.2
Lymphorrhea is defined as the leakage of lymph onto the skin. It is a known potential complication of primary lymphedema. Lymphorrhea most often occurs after surgery, specifically lymph node dissection, which results in trauma to the lymphatic system. Lymphorrhea poses a real threat, as it is very caustic to the skin and can cause recurrent infections.
Lymphorrhea in the setting of lymphedema has been reported but no case reports of spontaneous lymphorrhea have been published. Our patient denied any antecedent trauma that might have precipitated this spontaneous drainage of lymph.
Pathophysiology
Primary lymphedema is the result of overproduction or decreased removal of lymph, which causes stasis. Maldevelopment of the lymphatic system may contribute to primary lymphedema but it is not the only cause. Some patients with primary lymphedema have completely normal lymphangiograms, while people with normal limbs can have abnormal ones. Static lymph fluid can cause inflammation and tissue fibrosis, which may result in verrucous changes of the overlying skin.3
Pathology and Special Studies
Imaging for lymphedema includes lymphangiograms and venograms. Biopsies are sometimes done. However, these additional tests are often unnecessary, as the diagnosis is made clinically.
Genetics
Several genes have been implicated in the development of primary lymphedema. VEGFR3 mutations have been linked to Nonne-Milroy syndrome. FOXC2 mutations have been found in families with Meige syndrome. Finally, SOX18 mutations have been identified in hypotrichosis-lymphedema-telangiectasia syndrome.3
Treatment and Prognosis
Treatment of lymphedema is often cumbersome and lifelong. The goal of conservative therapy is to prevent lymph fluid stagnation and to restore normal lymphatic circulation. Patient compliance is essential to the prevention of the numerous complications of lymphedema. The majority of compliant patients can be treated successfully with conservative measures. Good hygiene, weight loss, compression stockings and pneumatic compression devices have all shown to be somewhat helpful.4,5 For more severe cases, or for lymphedema involving the genitalia, more aggressive surgical correction with lymphaticovenular anastomoses may be undertaken.6
Several recent studies have addressed potential therapies for lymphorrhea, including collagen powder7, octreotide8 and negative pressure wound therapy.9 The use of sclerotherapy has also been explored.10,11 However, all of these studies are limited to the treatment of post-operative lymphorrhea.
In general, conservative therapy is recommended. Surgical intervention is reserved for severe cases. Complications of surgical intervention include massive ischemic necrosis requiring amputation. Patient compliance is key to the successful management of this chronic condition. In addition to lymphorrhea, complications of lymphedema include recurrent cellulitis, deep vein thrombosis, elephantiasis nostras, lymphangiosarcoma and amputation. Currently, there is no cure for lymphedema.
Studies in our patient, including complete blood count and comprehensive metabolic panel, were within normal limits. CT scan with contrast showed reactive lymph nodes without any evidence of soft tissue abnormalities. The patient was asked to wear compression tights daily. A 6-week course of imiquimod 5% cream yielded no improvement in the continuous drainage of fluid. The patient was subsequently lost to follow-up.
Conclusion
Patients who present with lymphedema must first be classified as having primary or secondary lymphedema. Early treatment of lymphedema is essential to preventing complications like lymphorrhea. Lymph fluid is highly caustic to the skin and may cause permanent ulcerations.
Dr. Gaines-Cardone is with the Dermatology Center of Stamford in Stamford, CT. She is also an assistant clinical professor at Columbia University in New York, NY.
Dr. Khachemoune, the Section Editor of Derm DX, is with the Department of Dermatology at the State University of New York Downstate in Brooklyn, NY.
Disclosures: The authors have no conflicts of interest to report.
References
1. Smeltzer DM, Stickler GB, Schirger A. Primary lymphedema in children and adolescents: A follow-up study and review. Pediatrics. 1985;76(2):206-218.
2. Zuther JE. Lymphedema Management: The Comprehensive Guide for Practitioners. 2nd ed. New York, NY: Thieme; 2009.
3. Bolognia JL, Jorizzo JL, Rapini RP, eds. Dermatology. 2nd ed. St. Louis (MO): Mosby Elsevier; 2008.
4. Mayrovitz HN. The standard of care for lymphedema: Current concepts and physiological considerations. Lymphat Res Biol. 2009;7(2):101-108.
5. Brennan MJ, Miller LT. Overview of treatment options and review of the current role and use of compression garments, intermittent pumps and exercise in the management of lymphedema. Cancer. 1998;83(12 Suppl American):2821-2827.
6. Narushima M, Mihara M, Yamamoto Y, Iida T, Koshima I, Mundinger GS. The intravascular stenting method for treatment of extremity lymphedema with multiconfiguration lymphaticovenous anastomoses. Plast Reconstr Surg. 2010;125(3):935-943.
7. Stafyla V, Dimakakos E, Koureas A, et al. Effect of collagen powder on lymphorrhea after modified radical mastectomy. A randomized controlled trial. Eur J Gynaecol Oncol. 2011;32(2):185-187.
8. Kim WT, Ham WS, Koo KC, Choi YD. Efficacy of octreotide for management of lymphorrhea after pelvic lymph node dissection in radical prostatectomy. Urology. 2010;76(2):398-401.
9. Klode J, Klötgen K, Körber A, Schadendorf D, Dissemond J. Polidocanol foam sclerotherapy is a new and effective treatment for post-operative lymphorrhea and lymphocele. J Eur Acad Dermatol Venereol. 2010;24(8):904-909.
10. Abai B, Zickler RW, Pappas PJ, Lal BK, Padberg FT Jr. Lymphorrhea responds to negative pressure wound therapy. J Vasc Surg. 2007;45(3):610-613.
11. Michail PO, Griniatsos J, Kargakou M, Michail OP, Papadopoulos O, Bastounis E. Treatment of persistent lymphorrhea using bleomycin sclerotherapy. Plast Reconstr Surg. 2001;107(3):890-891.
PATIENT PRESENTATION
Lymphedema can be divided into primary and secondary lymphedema based on etiology. Maldevelopment of the lymphatic system results in primary lymphedema, while injury to the lymphatic system results in secondary lymphedema. In general, secondary lymphedema is far more common than primary. Primary lymphedema can be further divided according to symptom onset. Milroy’s disease is congenital lymphedema that is present at birth. Lymphedema praecox, also known as Meige’s disease, is primary lymphedema that begins in adolescence. Late-onset lymphedema (lymphedema tarda) begins in adulthood, usually after 35 years of age. Primary lymphedema is rare, affecting 1.2 per 100,000 persons younger than 20 years.2
