Transient idiopathic primary penoscrotal edema.

We present the case of a male born prematurely at 32 weeks gestation by cesarean section following overt symptoms of maternal preeclampsia. He developed severe penoscrotal edema anew one month from birth. No remarkable exposure or trauma was identified. This unexplained swelling remained uniform till 4 months of age, while the penile edema resolved spontaneously. A small benign hydrocele remained unchanged, since onset of the edema and continued after the edema subsided. This is the first report of persistent, but transient penoscrotal edema resolving in a 3 months course, without any apparent explanation, a possible pathogenetic mechanism was suggested.

What was known?

Primary lymphedema of the genitalia is a rare condition of unknown etiology resulting much concern because it can have major physical, psychological and cosmetic consequences in children or adolescents. There is little knowledge of its duration and whether the condition may be transient.

Introduction

We describe the case of a male infant, who was delivered prematurely at 32 weeks’ gestation by cesarean section because of overt symptoms of maternal preeclampsia. One month later, severe penoscrotal edema was developed. No exposure to potential causative factors or trauma was identified. The swelling remained uniform until 4 months of age and then it resolved spontaneously. A small benign hydrocele was noted at the onset of the edema and persisted throughout follow up.

This is the first report of a persistent, unexplained penoscrotal edema that resolved after a course of 3 months. A possible pathogenetic mechanism was suggested.

Case Report

A male infant was delivered at 32 weeks’ gestation by urgent cesarean section to prevent maternal preeclampsia following the appearance of pregnancy-induced hypertension. At Birth weight was 1700 g. The infant was admitted to the premature unit, but no specific abnormalities were noted. At 32 days of age, his parents observed an abnormality of the scrotum, which was diagnosed as hydrocele. Two weeks later, in-hospital examination revealed a persistent significant bilateral edema of the scrotum, including the glans penis, with normal testes and cord, and no involvement of other structures [Figures 1 and 2]. The parents were advised that the child could undergo routine circumcision.

Figure 1

Frontal view of swelling at acute phase

Figure 2

Lateral view of swelling at acute phase

The child was discharged to home for follow-up in the community. The child's pediatrician recorded the continued presence of a hydrocele with enigmatic involvement of the penis and prepuce, and bilateral progression to the inguinal regions. When the child achieved a weight of 2800 g, the family consulted two experienced traditional circumcisers. However, both refused to perform the procedure, claiming that the distorted anatomy and swollen structures precluded routine assessment of the limits of the glans. By 8 weeks of age, the infant was urinating normally, but the preputial edema of the prepuce prevented manipulation of the skin towards the base of the penis.

On repeated presentation of the infant at our center, physical examination revealed, besides the swelling of the genital structures, a striking induration of the mons pubis. There was no apparent color change or local heat or erythema, and no punctum indicating any form of arthropod sting in the affected region. The physical findings were otherwise normal. Laboratory testing yielded normal renal function and normal levels of albumin and protein. Cells and protein in urine were within normal range. An intra-abdominal mass was ruled out by ultrasound of the abdominal content, inguinal lymph nodes, and urinary system.

In the absence of pathological findings, circumcision was planned by application of a vascular clamp to ensure the slow and painless escape of interstitial fluid beyond either side of the preputial skin to be excised. However, the procedure was delayed because of a low hemoglobin level (6.2 g%) and indices of iron deficiency and corresponding thrombocytosis. These findings were attributed to prematurity. Oral supplementation of iron led to reticulocytosis and a gradual elevation in iron levels, a reduction in thrombocyte levels to 681,000 (K/ul), and normalization of the hemoglobin values. During the next 3 days, without any intervention the swelling of the genitalia subsided completely and the anatomy returned to normal. At 3 months and 5 days after birth, the circumcision was performed uneventfully. Urological follow-up, one year later revealed only a mild hydrocele without any additional abnormality.

Discussion

Primary lymphedema is classified by age at presentation: Lymphedema congenita (10 ± 20%) the rarest form, presents from birth to before the third month; lymphedema praecox presents suddenly around the time of puberty (80%); and lymphedema tarda presents after 35 years of age. In a series by Ross et al.,[1] the presentation of primary lymphedema ranged from one month to 14 years of age. Other classifications (histological, pathophysiological or lymphographic) have proved less useful.[2] In approximately 14% of cases, primary lymphedema is hereditary.

Lymphedema of the genitals causes much concern because it can have major physical, psychological and cosmetic consequences in children or adolescents.[34] Only a few cases of localized primary genital lymphedema have been described in the medical literature, and mostly were accompanied[3456] or followed (12 years later)[78] by lymphedema in other parts of the body, especially the legs.[5]

The pathogenesis of primary congenital lymphedema remains unknown, although congenital hypoplasia, or rarely, absence of the superficial lymphatic system, seems to play an important role. Specifically, lymphedema may be caused by developmental disorders of the proximal component of the perilymphatic system, or disorders in the connections with the venous system, or loss of embryonic lymphatics.[69] All of these can account for irreversible cases of various types. Opitz[10] noted that lesser degrees of spontaneously disappearing congenital lymphedema are more frequent than irreversible lymphedema in the general population. He suggested that, at least some of these cases undergo a “dynamic evolving process” wherein the development of the lymphatic system continues after birth. Others observed a regression of congenital lymphedema during the growth.[69] However, there are no reports of such a short course as in the present patient.

Other unique aspects of this case are the preeclampsia and prematurity, which are not recognized as contributory factors to primary congenital lymphedema. We speculate that small vessel vasculopathy may be instrumental in preeclampsia, with possible transplacental crossing of humoral mediators, which could explain or induce the observed abnormality. Given its rarity, isolated involvement of the genitalia could have a more favorable prognosis. In our case, the 60-day duration of the condition without any dynamics, probably refutes an acute cause, such as a local inflammatory process or arthopod bite. It is possible that, we were dealing with an extremely borderline case of congenital dysgenesis of the local lymphatic system. A critical developmental phase may have been manifested by transient loss of function, and following a brief period of compromise, spontaneous recuperation to full function.

Spontaneous improvement in lymphedema may occur during growth. Therefore, it is advisable to wait for 2-3 years before surgical intervention.[35] in our case, routine circumcision was delayed until the anatomy reverted to normal. During 4 years of follow-up, there were no further changes seen.

What is new?

A presenting case of primary lymphedema solely involving the genitalia may constitute a temporary phenomenon and may be related to maturity of vascular function. Therefore in such instances a conservative approach should be considered before embarking on invasive intervention such as surgery.