Otological complications in inversa type recessive dystrophic epidermolysis bullosa.

Background The rare inversa subtype of recessive dystrophic epidermolysis bullosa (RDEB-I) is characterized by predominant intertriginous skin blistering and marked mucosal involvement. Specific recessive missense mutations in the collagen VII triple helix are implicated. To date, otological complications have infrequently been reported in this patient group. Methods We conducted an observational, retrospective, double institution case record review of RDEB-I patients who presented with otological complications between January 2000 and June 2020. Diagnosis was established on the basis of clinical features, family history and mutation analysis of COL7A1. Results Forty-four percent (11/25) of RDEB-I patients in our database (2 paediatric, 9 adult; mean age 40.9 years, range 8-72 years) experienced otological complications. Ten of 11 individuals (90.9%) had recurrent otitis externa, 7/11 (63.6%) had meatal stenosis and 7/11 (63.6%) had recurrent blistering of external auditory canals. All 11 patients reported hearing difficulties, with conductive hearing loss confirmed by audiology testing in 6/11 (54.5%). Three of 11 (27.3%) patients had implantable hearing aids fitted with favourable outcome; 2 bone-anchored hearing aids (BAHA) and 1 middle ear implant (MEI). One paediatric patient presented with a cholesteatoma that was surgically managed. Discussion We observed a higher prevalence of otological morbidity in RDEB-I than previously reported and present the first case of cholesteatoma in EB. Our data indicate that BAHA and MEI are safe and effective treatment options for hearing loss in EB. Clinicians should be vigilant in screening for ear symptoms in RDEB-I and consider early referral to an ENT specialist.