Successful Placement of a BAHA Implant in a Patient With Epidermolysis Bullosa: A Case Report and Review of the Literature

Brown, Jason R.; Milgraum, David; Riyaz, Farhaad; Jahnke, Marla N.; Thottam, Prasad John

doi:10.1177/0003489417729833

Cited by 5 publications

(4 citation statements)

References 11 publications

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“…However, one case report 13 demonstrated success with excision of stenotic tissue, bony canal enlargement and split‐thickness skin graft. An alternative approach using a BAHA showed encouraging results for the treatment of conductive hearing loss in two patients with EB 14,15 . In the current study, we demonstrated for the first time long‐term success and feasibility of osseo‐integrated BAHA implants in two patients with RDEB‐I.…”

Section: Discussionmentioning

confidence: 51%

“…An alternative approach using a BAHA showed encouraging results for the treatment of conductive hearing loss in two patients with EB. 14,15 In the current study, we demonstrated for the first time long-term success and feasibility of osseo-integrated BAHA implants in two patients with RDEB-I. The minimally invasive BAHA procedure (punch technique) was well tolerated in each case and accompanied by good wound healing, complication-free postoperative course and significant improvement in hearing and QoL in the follow-up periods (12 and 13 years respectively).…”

Section: Discussionmentioning

confidence: 56%

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Otological complications in inversa type recessive dystrophic epidermolysis bullosa

Robertson

Prodinger

Liu

et al. 2022

Clinical and Experimental Dermatology

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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 in the disease. To date, otological complications have been reported infrequently in this patient group. Methods. We conducted an observational, retrospective, double institution case record review of patients with RDEB-I 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 the COL7A1 gene. Results. In total, 11 (44%) of 25 patients with RDEB-I in our database (2 paediatric, 9 adult; mean age 40.9 years, range 8-72 years) experienced otological complications. Of these 11 patients, 10 (90.9%) had recurrent otitis externa, 7 (63.6%) had meatal stenosis and 7 (63.6%) had recurrent blistering of the external auditory canals. All 11 patients reported hearing difficulties, with conductive hearing loss confirmed by audiology testing in 6 (54.5%) of these. Of the 11 patients, 3 (27.3%) went on to have implantable hearing aids [2 bone-anchored hearing aids (BAHA) and 1 middle ear implant (MEI)] fitted with favourable outcome, while a fourth 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 epidermolysis bullosa (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 Ear, Nose and Throat specialist.

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Section: Discussionmentioning

confidence: 51%

Section: Discussionmentioning

confidence: 56%

Otological complications in inversa type recessive dystrophic epidermolysis bullosa

Robertson

Prodinger

Liu

et al. 2022

Clinical and Experimental Dermatology

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“…Surgical treatment was not considered due to the patient’s pediatric age. Brown et al 10 described the case of a patient affected by RDEB with bilateral stenosis of EACs and consequent bilateral mixed hearing. One-side surgical implantation of BAHA allowed hearing recovery.…”

Section: Discussionmentioning

confidence: 99%

Recessive Dystrophic Epidermolysis Bullosa: Rare Bilateral External Auditory Canal Stenosis and Surgical Treatment

Milani

Pace

Iannella

et al. 2022

Clin Med Insights Case Rep

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Epidermolysis bullosa (EB) is a family of rare genetic disorders affecting the skin and mucous membranes, causing blisters and lesions. Its treatment is based on the prevention of traumatic events that could favor the onset of blisters as well as careful wound care. New therapies, including gene therapy, are under investigation. In the case described here, a rare localization of EB at the level of the ear canal is described. To our knowledge, no surgical option for treatment has previously been described in the literature. The clinical features observed and the therapeutic modalities adopted are presented and discussed. A 56-year-old female patient came to our attention for bilateral progressive hearing loss. The patient was suffering from Dystrophic EB. Surgical correction of the stenosis through a retroauricular approach was planned, with the simultaneous reconstruction of the right external auditory canal using the canaloplasty technique combined with Thiersch skin grafting. The case we report here is, to our knowledge, the second describing the surgical treatment of ear canal stenosis secondary to EB. As a result of surgical correction of the stenosis, the ear regained its physiological function and there was an improvement in hearing. In the subsequent post-operative controls, there was no recurrence of the disease, from which the patient is still free 36 months after surgery. Although conservative treatment is a solid choice, our experience seems to indicate that the surgical option allows better management of the Dystrophic EB in the external auditory canal.

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“…A subset of individuals with RDEB develops life-threatening dilated cardiomyopathy at an early age ( Fine et al, 2008 ). A less considered change is external auditory canal stenosis, which may result in hearing loss ( Brown et al, 2017 ).…”

Section: Extracutaneous Manifestations In Rdebmentioning

confidence: 99%

Dystrophic Epidermolysis Bullosa: Secondary Disease Mechanisms and Disease Modifiers

2021

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The phenotypic presentation of monogenetic diseases is determined not only by the nature of the causative mutations but also is influenced by manifold cellular, microenvironmental, and external factors. Here, heritable extracellular matrix diseases, including dystrophic epidermolysis bullosa (DEB), are no exceptions. Dystrophic epidermolysis bullosa is caused by mutations in the COL7A1 gene encoding collagen VII. Deficiency of collagen VII leads to skin and mucosal fragility, which progresses from skin blistering to severe fibrosis and cancer. Clinical and pre-clinical studies suggest that targeting of secondary disease mechanisms or employment of natural disease modifiers can alleviate DEB severity and progression. However, since many of these mechanisms are needed for tissue homeostasis, informed, selective targeting is essential for safe and efficacious treatment. Here, we discuss a selection of key disease modifiers and modifying processes active in DEB, summarize the still scattered knowledge of them, and reflect on ways forward toward their utilization for symptom-relief or enhancement of curative therapies.

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Successful Placement of a BAHA Implant in a Patient With Epidermolysis Bullosa: A Case Report and Review of the Literature

Cited by 5 publications

References 11 publications

Otological complications in inversa type recessive dystrophic epidermolysis bullosa

Otological complications in inversa type recessive dystrophic epidermolysis bullosa

Recessive Dystrophic Epidermolysis Bullosa: Rare Bilateral External Auditory Canal Stenosis and Surgical Treatment

Dystrophic Epidermolysis Bullosa: Secondary Disease Mechanisms and Disease Modifiers

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