Bullous Congenital Ichthyosiform Erythroderma: Management of Otological Manifestations

Bullous Congenital Ichthyosiform Erythroderma (BCIE) is a rare form of congenital ichthyosis which...

Results: 6 patients were identified: 66% (n=4) were male and 33% (n=2) were female. The age at first presentation ranged from 5 months-4 years. 100% of patients (n=6) presented with conductive hearing loss with no preceding infection or otorrhea. Examination under general anesthesia (EUA) revealed ear canal keratin plugs and the absence of middle ear disease. Management was conservative consisting of regular application of olive oil drops and repeated microdebridement.

Discussion and Conclusion:
Few reports have addressed the otological manifestations of BCIE and more work is needed to investigate this area. Our outcome provides additional insight demonstrating that conservative management with the regular instillation of olive oil drops and repeated EUA and microdebridement of keratin plugs to prevent complications.

Results
Six patients were identified: 66% (n=4) were male and 33% (n=2) were female. The female patients were twin sisters. Initial Post-operative tympanogram were within normal ranges.   A third surveillance EUA was scheduled depending on the severity and observed re-accumulation after a 6-month period while patients were continued on olive oil drops and similar clinical and audiological findings were present as on previous assessment.
An individualized time interval for the following EUA was extended and rescheduled at a 9 months period with continuous regular olive oil ear drops instillation. Similar clinical and audiological finding were found at follow-up. Accumulations recurred quite quickly but persistent symptoms did not develop for approximately 9 months and were proportional to the severity of the generalized condition.
Assessments were repeated at a 9-12 monthly interval either in the clinic or operating theatre depending on age and tolerance for each patient, unless early procedures were deemed clinically necessary or the intervals could be extended out further. In total patients had on average 3 EUAs with microdebridement while as they got older the condition could be managed in the clinic with increasingly less frequent visits. From our cohort of patients 16% (n=1) had evidence of infective otitis externa in some but not all of his EUAs.

Discussion and Conclusion
The overall management of Congenital Ichthyosis is complex and in the absence of definitive curative management supportive care is offered to reduce symptoms and prevent complications.
Topical emollients and ketalolytics are the mainstay of treatment There are no guidelines or management protocol available for the otological manifestations of this condition. Our management plan was simple with satisfactory outcomes. This consisted of early assessment of symptomatic patients with BCIE with preoperative hearing screening, early EUA with microdebridement of keratin and followed by full audiological assessment.
If middle ear disease, SNHL and/or mixed type hearing loss is evident then patients would have had repeated genetic typing and underwent CT assessment of their temporal bones to exclude other middle or inner ear pathology. The management of patients with normal middle ear whose only complaint is CHL secondary to keratin plugs was simple including the regular use of olive oil drops and easy access to EUA and microdebridement when needed. We found that the frequency of toilet was related to the extent the disease and that as patients got older the need for general anesthesia lessened as did the frequency of clinic visits. We did not encounter any patient with expansile or erosive changes from the disease. Our group suggests using this algorithm to manage these patients although describing a small number of patients is still to our knowledge the largest case series with longest follow-up of this condition to date that we could find in the English literature. While there are no current guidelines in this area our experience is mirrored by case reports describing the management of this condition. Few reports have addressed the otological manifestations of BCIE and more work is needed to provide clarification in a management protocol of a rare process and deliver a prognostic estimate to the parents or attending physicians. Our outcome provides additional insight demonstrating that conservative management with the regular instillation of olive oil drops and repeated EUA and microdebridement of keratin plugs to prevent complications. No ethical approval was required for the study.