Otological complications in inversa type recessive dystrophic epidermolysis bullosa.
Journal
Clinical and experimental dermatology
ISSN: 1365-2230
Titre abrégé: Clin Exp Dermatol
Pays: England
ID NLM: 7606847
Informations de publication
Date de publication:
Apr 2022
Apr 2022
Historique:
revised:
16
11
2021
received:
04
10
2021
accepted:
19
11
2021
pubmed:
27
11
2021
medline:
2
4
2022
entrez:
26
11
2021
Statut:
ppublish
Résumé
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. 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. 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. 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.
Sections du résumé
BACKGROUND
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
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
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
CONCLUSIONS
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.
Substances chimiques
COL7A1 protein, human
0
Collagen Type VII
0
Types de publication
Journal Article
Observational Study
Langues
eng
Sous-ensembles de citation
IM
Pagination
717-723Informations de copyright
© 2021 British Association of Dermatologists.
Références
Has C, Bauer JW, Bodemer C et al. Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility. Br J Dermatol 2020; 183: 614-27.
van den Akker PC, Mellerio JE, Martinez AE et al. The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen. J Med Genet 2011; 48: 160-7.
Fine JD, Mellerio JE. Extracutaneous manifestations and complications of inherited epidermolysis bullosa: part I. Epithelial associated tissues. J Am Acad Dermatol 2009; 61: 367-84: quiz 85-6.
Fine JD, Johnson LB, Weiner M et al. Tracheolaryngeal complications of inherited epidermolysis bullosa: cumulative experience of the national epidermolysis bullosa registry. Laryngoscope 2007; 117: 1652-60.
Hore I, Bajaj Y, Denyer J et al. The management of general and disease specific ENT problems in children with epidermolysis bullosa - a retrospective case note review. Int J Pediatr Otorhinolaryngol 2007; 71: 385-91.
Dumon T, Medina M, Sperling NM. Punch and drill: implantation of bone anchored hearing device through a minimal skin punch incision versus implantation with dermatome and soft tissue reduction. Ann Otol Rhinol Laryngol 2016; 125: 199-206.
Jerabkova B, Kopeckova L, Buckova H et al. Analysis of the COL7A1 gene in Czech patients with dystrophic epidermolysis bullosa reveals novel and recurrent mutations. J Dermatol Sci 2010; 59: 136-40.
Kern JS, Gruninger G, Imsak R et al. Forty-two novel COL7A1 mutations and the role of a frequent single nucleotide polymorphism in the MMP1 promoter in modulation of disease severity in a large European dystrophic epidermolysis bullosa cohort. Br J Dermatol 2009; 161: 1089-97.
Christiano AM, McGrath JA, Tan KC et al. Glycine substitutions in the triple-helical region of type VII collagen result in a spectrum of dystrophic epidermolysis bullosa phenotypes and patterns of inheritance. Am J Hum Genet 1996; 58: 671-81.
Mahto A, McGrath JA, Deroide F et al. Late-onset pretibial recessive dystrophic epidermolysis bullosa. Clin Exp Dermatol 2013; 38: 630-2.
Weinel S, Lucky AW, Uitto J et al. Dystrophic epidermolysis bullosa with one dominant and one recessive mutation of the COL7A1 gene in a child with deafness. Pediatr Dermatol 2008; 25: 210-14.
Malecki M, Domanski M, Ciechanowski K. End-stage kidney disease in patient with epidermolysis bullosa - what are the treatment options? Case report. BMC Nephrol 2017; 18: 193.
Thawley SE, Black MJ, Dudek SE et al. External auditory canal stricture secondary to epidermolysis bullosa. Arch Otolaryngol 1977; 103: 55-7.
Lin J, Fayad JN. Epidermolysis bullosa. Ear Nose Throat J 2007; 86: 192.
Brown JR, Milgraum DM, Riyaz FR et al. Successful placement of a BAHA implant in a patient with epidermolysis bullosa: a case report and review of the literature. Ann Otol Rhinol Laryngol 2017; 126: 778-80.
Kuo CL, Shiao AS, Yung M et al. Updates and knowledge gaps in cholesteatoma research. Biomed Res Int 2015; 2015: 854024.
Woodley DT, Cogan J, Mosallaei D et al. Characterization of mutant type VII collagens underlying the inversa subtype of recessive dystrophic epidermolysis bullosa. J Dermatol Sci 2021; 104: 104-11.