The management of general and disease specific ENT problems in children with Epidermolysis Bullosa—A retrospective case note review

Manifestações otorrinolaringológicas e esofágicas da epidermólise bolhosa

“…Depending on the type of epidermolysis bullosa, patients may develop phlyctenula in their mouths, esophagus, nostrils, ears, and larynx, resulting in significant morbidity [6][7][8][9][10][11][13][14][15] . Iron deficiency anemia is common with the blood losses subsequent to blister rupture 7 .…”

“…EB affects one in every 50,000 livebirths 4 . Blisters appear secondary to the formation of cleavage planes in skin and mucosa 2,3,[5][6][7] . EB can be divided into three large clinical groups: EB simplex (dominant autosomal) with blisters located in the epidermis that do not leave scars; junctional EB (recessive autosomal) in which blisters form in the lamina lucida; and EB dystrophica (dominant or recessive autosomal) characterized by the presence of atrophy, milium cysts, ungueal dystrophies, pigmentary alterations and mucosal injuries 2,4 .…”

“…Electronic microscopy is the golden standard for diagnosis, but immunohistochemistry (monoclonal antibodies specifically) and molecular biology have provided sophisticated definitions of normal skin dermoepidermal junction structure and function and alterations found on each EB group and subgroup 4 . Otorhinolaryngological manifestations are frequent in EB [6][7][8][9][10][11] . Such manifestations are related to the appearance of mucosal blisters (mainly in the oropharynx and esophagus), followed by rupture and hypertrophic scarring, leading to frenulum shortening, microstomia, esophageal stenosis, laryngeal stenosis, and nasal vestibule stenosis.…”

Schleimhautbeteiligung bei Epidermolysis bullosa

“…Chirurgische Interventionen kön-nen bei Vorhandensein von extensiven laryngealen oder trachealen Narben, Schleimhautmembranen und Granulationsgewebe zur Korrektur notwendig sein [32].…”

“…Bei schwerer Laryngomalazie führte eine Supraglottoplastik nach (allerdings nur vereinzelten) Erfahrungsberichten bei Patienten mit JEB zu relativ guten Ergebnissen und nur minimalen iatrogenen Verletzungen [32].…”