Vesicostomy as a Treatment Option for Epidermolisis Bullosa Case With Urethral and Meatal Involvement.

Epidermolisis Bullosa (EB) is a rare hereditary disorder that its junctional type is very rare one that involves epithelium, however, genitourinary epithelium involvement occurs so rarely. The present case is 5-year old boy; a known case of junctional EB whom had recurrent urinary retention due to meatal and urethral stenosis that was deteriorated by therapeutically interventions.

Introduction

EB is a rare inherited disorder characterized by trauma induced dermal bullous lesions. Respiratory, gastrointestinal and genitourinary system involvement might also occur. In this report, we introduce a 5-year old male patient with junctional EB that was referred to our center with recurrent urinary retention.

Case presentation and management

A five years old male patient was born mature and term without any perinatal complication, during fifth day of birth after appearing the skin bullous lesions and preparing dermal biopsy the diagnosis of junctional EB was obtained. He had no history of hospital admission during neonatal and infancy because of skin infectious or sepsis. The first urological presentation occurs in 2.5-years of his life as urinary retention. Meatal stricture was diagnosed and then meatotmy was done. The previous urinary obstructive sign and symptom 3 months after meatotomy recurred, so once again after 5 months the patient reevaluated by cystoscopy, VCUG, RUG and sonography. No one had important findings and all were normal so meatotomy done for second time. No improvement occurs and clinical manifestation of patient continues till fifth years of his age due to urinary retention trocar cystostomy done and after failing of cystostomy the patient was referred to our center. The patient was pale and has several bollus lesions on different parts of his body (Fig. 1a and b), atrophic nails (Fig. 1c and d) and bladder pain due to urinary retention. Old bollus lesions seen on his glans and primeatus (Fig. 1e and f) and dullness in suprapubic percussion. No other significant clinical findings were present in history and physical examination. Except microcytic hypochromic anemia (Hb = 9.8) all other lab results were normal. By doing sonography and RUG, severe posterior urethral dilatation and anterior urethral stenosis was obvious (Fig. 2). After consultation with dermatologist and his offer, definite treatment with minimal instrumentation in order to preventing of progressive meatal and urethral stenosis done. So vesicostomy done after bladder decompression by suprapubic angiocath placement (Fig. 3). Increasing in bladder capacity and minimal intervention in urogenital system establish with vesicostomy. Although vesicostomy is not a good treatment for 5-years children but for this case with mucosal involvement of ureathra due to EB, vesicostomy was an appropriate treatment. Finally patient discharged 2 days later.

Figure 1

(a and b): dermal lesions of the patient, (c and d): nails involvement and (e and f): urethral involvement.

Figure 2

RUG shows posterior urethral dilatation and anterior urethral stenosis.

Figure 3

Vesicostomy done for the patient.

Discussion

EB is an inherited disorder that involves skin and mucosa and depend on different subtype can have different clinical presentation including severe respiratory and urogenital symptoms resulting respiratory or renal failure. This disorder can involves different parts of urogenital system including urethra, bladder, ureters and kidneys. If urethra involved urinary obstructive symptoms can be present.1, 2, 3, 4, 5, 6, 7, 8 In this case despite meatal stricture and proper treatment by meatotomy not only obstructive symptoms wasn't resolved but also deteriorated. This resulted in confusing and similar to PUV in RUG. The important aspect of this patient was to understanding that the more urethral intervention and instrumentation the more complication will be occurred. So once again we emphasize that in EB patient present with meatal and urethral involvement the diagnostic and therapeutically interventions should be done with minimal mucosal damage and all physicians must be aware of this reality.

Conflict of Interest

The authors have no conflicts of interest to disclose.