The portal for rare diseases and orphan drugs

The prevalence at birth for the EEC is reported at 1/10,000. As epispadias (E), classic bladder exstrophy (CEB) and cloacal exstrophy (EC) are now recognized clinical variants of the same spectrum, accurate epidemiological data on E/EC/CEB are no longer available. The malformation is likely underdiagnosed in females but the adjusted male-to-female ratio is estimated at 1.4:1.

Epispadias is usually recognized at birth, but the most distal forms, presenting with only minor clinical anomalies, maybe overlooked at birth, particularly in females. Epispadias in males can be classified as either penopubic, penile or glanular depending on the location of the meatus. Dorsal chordee is observed in all cases, although the degree varies. In females, epispadias can be severe (with a cleft involving the whole urethra and the bladder neck, together with bladder mucosal prolapse), intermediate, or mild (with a gaping meatus). The abdominal wall, rectus and umbilicus are normal and pelvic and pelvic floor anomalies are mild or absent. Urinary incontinence is the main clinical symptom in both sexes, ranging from urine permanently dripping through the meatus in severe forms, to involuntary urine loss with stress (coughing and strenuous effort) in milder forms. Urinary incontinence may not be observed in patients with the most distal forms of epispadias.

Epispadias results from an anomaly during early embryologic development associated with abnormal partitioning of the cloacal membrane causing displacement of the genital tubercle and resulting in nonclosure of the urethral plate and an abnormal dorsal urethral location. The underlying cause remains unknown: both genetic and environmental factors are likely to play a role.

Diagnosis is usually clinical. During follow-up, imaging studies (such as cystoscopy voiding cystography and urodynamics) are useful to determine the extent of the malformation.

The typical clinical picture does not generally implicate any further differential diagnosis; however, epispadias is also a feature of the whole EEC spectrum (see this term).

Prenatal diagnosis by ultrasound examination is very rare in patients with isolated epispadias due to the minor ultrasound features.

Management is surgical, aiming for adequate cosmetic and functional genital reconstruction and, if necessary, achieving urinary continence. Several surgical approaches have been described for correction of epispadias in males involving meticulous partial or complete disassembly of the penis to allow correction of the dorsal chordee, urethral reconstruction for micturition and semen transport, glandular reconstruction and penile skin closure. Readaptation of the external sphincter and pelvic floor musculature or a complete bladder neck procedure may be required to achieve urinary continence. In females, genital reconstruction includes tubularization and correct placement of the distal urethra, as well as longitudinal closure of the cleft to fuse the labia and bifid clitoris, and, if necessary, skin and tissue reconstruction of the mons pubis area. After reconstructive surgery of the penis, adequate cosmetic and functional outcome can be expected. If a bladder neck procedure was necessary, continence rates are about 80% during childhood. In females, the genital defect is judged to be minor, mostly resulting in excellent cosmetic outcomes. In puberty, genital and reproductive function constitute increasingly important issues for both sexes.