Rare Diseases Symptoms Automatic Extraction

Urethral meatal stenosis in junctional epidermolysis bullosa: a rare complication effectively treated with a novel and simple modality.

[junctional epidermolysis bullosa]

A 10-year-old boy was diagnosed with non-Herlitz junctional epidermolysis bullosa (nh-JEB) shortly after birth when he developed blisters on his feet and under the toenails. His younger brother was also affected by nh-JEB. Their parents were first cousins. Immunofluorescence mapping showed a blister in the lamina lucida and reduced staining with GB3 antibody against laminin V. Molecular analysis showed a homozygous mutation in the LAMC2 gene. The patient complained of intermittent inability to pass urine, causing significant suprapubic pain, anxiety, and general discomfort. He reported the development of blisters and erosions at the urethral meatus, which caused fusion of the meatal opening. In order to micturate, he had to tear apart the fused tissue, resulting in considerable pain. Physical examination revealed multiple healing erosions and atrophic scars, mainly on the legs (Fig. 1), and anonychia of most of the toenails. The walls of the urethral meatus were adherent (Fig. 2). The urethral meatus could not be opened using a moderate amount of pressure by the examining physicians. Prevention of re-stenosis of the urethral meatus was accomplished with the application of Mepilex (Mölnlycke, Sweden) to the urethral meatus after each micturition, where it remained until the next episode of micturition. Since the institution of this care regimen 10 months ago, there has been no recurrence of the stenosis.

Diseases presenting "mutation in the lamc2 gene" symptom

  • junctional epidermolysis bullosa

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