Purpose: Lymphedema is the chronic, progressive swelling of tissue from anomalous development (primary) or injury (secondary) to lymph nodes or lymphatic vessels. Genital lymphedema in the pediatric population is rare and poorly understood. The purpose of this study was to determine the epidemiology, morbidity, and optimal management for males with genital lymphedema.
Methods: Male patients evaluated or treated at our interdisciplinary vascular anomalies center from 1995 - 2010 with genital lymphedema were reviewed with regard to etiology, morbidity, and management.
Results: Of the 3,889 male patients with vascular anomalies, 25 (0.6%) had genital lymphedema. Primary lymphedema was the diagnosis in 92.0% (n = 23) of patients. Six patients (24.0%) had syndromic lymphedema [Noonan syndrome (n = 2), lymphedema-distichiasis (n = 2), and Milroy disease (n = 2)]. Mean age-of-onset was 4.5 ± 6.3 years. Disease was isolated to the genitalia in 20.0% (n = 5) of patients; 19 patients (76.0%) had concomitant lower extremity involvement. Combined penoscrotal lymphedema occurred in 72.0% (n = 18); the remaining patients had isolated scrotal (n = 6) or penile (n = 1) disease. The most common complications were cellulitis (24.0%), lymphorrhea (24.0%), and skin changes (12.0%). Seven (28.0%) patients were observed; 12 children (48.0%) received compression therapy. Surgical contouring to improve symptoms and the appearance of the genitalia was performed in 44.0% (n = 11) with a mean of 1.5 ± 1.0 procedures per patient (Figure 1). Mean age at first surgical intervention was 13.9 ± 8.0 years. All patients with operative intervention and follow-up (n = 6) had sustained improvement after a mean 2.8 ± 4.1 years.
Conclusion: Male genital lymphedema is rare and typically concurrently affects the lower-extremities. Most patients experience swelling in infancy and early childhood, but the psychosocial morbidity is often delayed until adolescence. Surgical debulking to improve symptoms and appearance is postponed until after pubertal changes to the genitalia occur to avoid overcorrection. Lesions with significant overgrowth or functional problems can be partially dealt with during childhood. Serial excisions may be necessary to achieve sustained improvement for this distressing disease.