Why Are My Legs Swollen?
An overweight 66-year-old man presented with a chief concern of scaly, swollen legs that he reported became numb as the day progressed. The patient said he observed the condition started at his ankles, which were red and itchy, approximately 2 years prior to his current presentation. It gradually moved upward on both legs and progressively worsened. He noted that his legs sometimes oozed with a watery discharge, but he reported no pain in his extremities. The numbness subsided when he elevated his legs, he said, and triamcinolone cream helped to relieve his symptoms. The patient’s medical history included obesity, hypertension, type 2 diabetes, cirrhosis, anemia, and deep venous thrombosis. He reported shortness of breath when he walked around, which was relieved upon resting. The patient had a 40-pack-year history of smoking, but he had quit smoking 11 years prior to his current presentation. He had not recently traveled out of the United States. Upon physical examination, the patient’s lower extremities were swollen with diffuse, scaly, erythematous papules (Figures 1 and 2). There was evidence of nonpitting peripheral edema. Deep fissures were present around his ankles. The patient was taking numerous medications, including furosemide, lisinopril, tramadol, and famotidine.
Based on the photographs and the case description, what is your diagnosis?
A. Lymphatic filariasis
B. Podoconiosis
C. Elephantiasis nostras verrucosa
D. Lipedema verrucosa
E. Chronic obesity lymphedematous mucinosis
Continue to next page for the answer and a discussion>>
Diagnosis: Elephantiasis nostras verrucosa (C)
Discussion
Elephantiasis nostras verrucosa (ENV) is a rare clinical entity associated with nonfilarial lymphedema.1 The term elephantiasis is commonly used to describe a body part that is enlarged and disfigured due to edema and fibrosis; but historically, the term refers to swelling of the legs caused by parasitic infection of various species of roundworms, the most common of which in humans is Wuchereria bancrofti.1 The term nostras was added to the diagnosis in 1934 to distinguish ENV from other lymphedematous disorders of temperate regions not caused by filariasis.1 ENV is currently understood as a dermatological complication caused by bacterial or non-
infectious lymphatic obstruction, which has numerous etiologies, including tumor obstruction, radiation, obesity, congestive heart failure (CHF), and trauma.1 Swelling typically occurs in the subcutaneous layer.2 Cellulitis and lymphangitis are common complications of lymphedema that cause distinguishing skin changes of ENV, including papillomatosis, hyperkeratosis, increased creases, and thickening of the skin.2 Cobblestone-like verrucous nodules frequently appear along with lichenified skin and hyperpigmentation.3,4
The patient’s history, physical examination, and presence of typical cutaneous lesions usually suffice to make a diagnosis of ENV.4 In our case patient, we suspected ENV based on physical examination of the patient’s lesions, his medical history of obesity, and his statement that he had not recently traveled. Further investigation was needed to see if CHF also contributed to his condition. Our patient did not have a history of CHF; however, we suspected that he may have had undiagnosed CHF because CHF is often contributory to this type of lymphatic obstruction, and he had several signs and symptoms of CHF. It is not known if the patient followed up with his primary care provider to further investigate possible CHF.
Pathology Findings
Histopathologic examination of biopsy findings and imaging techniques, such as isotope lymphography, lymphangiography, computed tomography, and magnetic resonance imaging, may assist in the differential diagnosis of ENV, especially to rule out malignancy.1-3 Pseudoepitheliomatous hyperplasia, dilated lymphatic spaces, and fibrosis are characteristic findings of ENV.1 A biopsy was not conducted for our case patient because his history and physical examination provided enough basis to make a diagnosis of ENV.
Approaches to Treatment
If left untreated, ENV can cause severe disfiguration to the involved limb.5 When treating ENV, it is imperative to address the edema as soon as possible to help prevent bacterial infection and fibrosis. Treatment to help stimulate lymph flow is important in helping control lymph formation and drainage.2 Physical forms of treatment include exercise, compression with hosiery, manual massage, pneumatic compression, and elevation of the affected limb.1,2 If indicated, antibiotics should be given immediately to prevent bacterial infections from escalating.2 In some cases, prophylactic antibiotics may be prescribed to those with recurring infections.2 There is some evidence that oral etretinate improves lymphedema, hyperkeratosis, and verrucous lesions while also flattening the papillomatous nodules that are prominent in this condition.6 For some patients whose limbs have become significantly enlarged, surgical removal of excessive tissue and fluid may be warranted.2,5
Ruling Out the Other Diagnoses
What follows is a brief review of some of the other possible diagnoses, which were ruled out for our case patient.
Lymphatic Filariasis
Lymphatic filariasis is one of the most common causes of secondary lymphedema occurring in the tropical and subtropical regions of the world.7 Several of the roundworm species (nematodes) known to cause lymphatic filariasis are Wuchereria bancrofti, Brugia malayi, and Brugia timori.1,7 Although the pathology is not fully understood, evidence shows that nematodes may cause abnormalities in the integrity of the lymphatic vessels and prevent appropriate functions, such as lymph production and drainage.7 The lymphedema in lymphatic filariasis mainly affects the lower extremities but can also involve the arms, male genitalia, and breasts.3,8 Clinical diagnosis of lymphatic filariasis are commonly made in endemic regions through examination of the affected limb.8 Other tests used to determine filarial infestation include night blood examinations to detect microfilariae and the immunochromatographic card test for the filarial antigens.8
Podoconiosis
In areas of the world where there are high amounts of red clay soil of volcanic origin, podoconiosis, a type of noninfectious elephantiasis, is common.9 Case reports of manual laborers in agricultural regions show that this disease presents more frequently in younger persons, typically in their second or third decade of life.10,11 It is believed that this type of bilateral nonfilarial elephantiasis is an inflammatory response in the lymphatics caused by long-term exposure to particles in the red clay soil.9 Almost all patients with pondoconiosis have adenolymphangitis (red, hot legs and swollen, painful groin).10 The condition is rare, as it is most often prevented by wearing socks and shoes in these regions of the world, practicing regular foot hygiene, and using emollients.10
Lipedema
The chronic, irregular, and bilateral deposition of adipose in the lower limbs, between the pelvic crest and ankle, is known as lipedema.12 The legs of an individual with lipedema are described as being in the shape of an Egyptian column.13 Commonly misdiagnosed as lymphedema, this disease of abnormal lipid metabolism usually does not involve the feet or the upper extremities.12 Occasionally, subcutaneous nodules can be palpated, which results from an accumulation of adipose tissue.12 Often, there is a known family history of lipedema and it is first diagnosed in puberty. Lipedema is more commonly seen in men than in women and can worsen during pregnancy.13 This condition presents with a negative Stemmer’s sign (a thickened skin fold at the base of the second toe or second finger), is characterized by skin that is cool to the touch but can be painful, and typically coexists with edema and changes in plantar support.13
There are three distinguishable stages of lipedema. During the first stage, the skin is still soft with nodules equally dispersed throughout the subcutaneous tissues.12 In the second stage, the nodules are no longer spaced evenly throughout the subcutaneous tissue, and the skin has the characteristic look of an orange peel.12 The third stage is marked by subcutaneous tissue that extends beyond the skin of the knees and thighs.12 Increased fragility of the nearby vessels can cause petechiae as well as hematomas.12 The irregular lipid metabolism involves hyperplasia of the individual fat cells, affecting both distribution and storage.12 A histological examination of lipedema reveals necrosing adipocytes along with progenitor cells originating from adipose tissue.13
Chronic Obesity Lymphedematous Mucinosis
Pretibial myxedema is often related to thyroid disorders; however, when mucin deposition is observed in euthyroid individuals, a diagnosis of obesity-associated lymphedematous mucinosis may be suspected.14 It is suggested that the cause of mucin deposition in pretibial skin is stasis of the lymphatic fluid.14 Patients with chronic obesity lymphedematous mucinosis are typically morbidly obese and have painless, pitting edema in their lower extremities, rarely affecting the upper extremities.14,15 This condition first presents as waxy, pink or yellow cutaneous nodules, with gradual thickening of the skin.15 A histological examination shows separation of collagen bundles and effacement of the rete ridges with deposition of mucin around vessels and superficial papillary dermis.14
References
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391-395.
The authors report no relevant financial relationships.