The management of general and disease specific ENT problems in children with Epidermolysis Bullosa--a retrospective...

Epidermolysis Bullosa encompasses a group of inherited disorders characterized by excessive susceptibility of the skin and mucosa to separate from underlying tissues following mechanical trauma. Information in the literature and guidance on the management of Ear, Nose and Throat problems in such children is scarce. The aim of this study is to report the experience of an Ear, Nose and Throat department in a tertiary paediatric hospital linked to a national Epidermolysis Bullosa unit, describing how children have presented and the care that has been given including a theatre protocol aimed at reducing shearing forces.

Retrospective case note review of Epidermolysis Bullosa patients referred to Otolaryngology over an 8-year period.

Reviewing notes of 307 EB patients identified 15 that had been referred to the ENT department. Four children with middle ear effusions were effectively treated by watchful waiting or grommets. Three children with otitis externa had some relief from careful microsuction but reinfection from ulcers on other parts of the children's bodies tended to occur. One child with profound sensorineural hearing loss benefited from cochlear implantation but later passed away from unrelated sepsis. One child with intrinsic rhinitis was treated with steroid and then a salt-water nasal spray. Five children had nasal crusting documented, although this was not a specific reason for referral. When severe this had been treated with topical steroids by the dermatology team. One patient with obstructive sleep aponea had tonsillectomy and examination of the post-nasal space. Of the five patients referred with glottic or supraglottic scarring, the management of four included a tracheostomy. When carried out tracheostomy sites healed well in each case. With repeated endoscopic procedures it was subsequently possible to remove the tracheostomy in the two of the children. Using a special theatre protocol no new ulcers were recorded as being precipitated by any of the procedures children underwent.

Optimal management depends on the support of a multidisciplinary team, including otolaryngologists, pediatricians, dermatologists, anaesthetists, and specialist nurses. Adherence to a protocol for theatre management can help avoid intraoperative complications.