Skip to main content
Hauptrubriken
CME Facharzt-Training Webinare Zeitschriften Bücher e.Medpedia Podcast
Service
Jobbörse Info & Hilfe
Fachgebiete
Anästhesiologie Allgemeinmedizin Arbeitsmedizin Augenheilkunde Chirurgie Dermatologie Gynäkologie und Geburtshilfe HNO Innere Medizin Kardiologie Neurologie Onkologie und Hämatologie Orthopädie und Unfallchirurgie Pädiatrie Pathologie Psychiatrie Radiologie Rechtsmedizin Urologie Zahnmedizin
Themen
Typ-2-Diabetes und Adipositas Klimawandel und Gesundheit Neues aus dem Markt COVID-19 Praxis und Beruf Seltene Erkrankungen GOÄ & EBM Panorama
Sammlungen
Kasuistiken Algorithmen & Infografiken Blickdiagnosen Arthropedia FlapFinder (für Dermatochirurgen) Videos Kongressberichterstattung Medizin für Apothekerinnen und Apotheker Für Ärztinnen und Ärzte in Weiterbildung Für Medizinstudierende

Die Highlights vom Kongress des American College of Cardiology 2024

Im April diskutierten die Herz-Kreislauf-Spezialisten aus der ganzen Welt auf dem  Kongress des American College of Cardiology (ACC) u.a. neue Therapieansätze bei akutem Myokardinfarkt, koronarer Herzerkrankung, kardiogenem Schock oder Aortenklappenstenose. In unserem Kongress-Dossier haben wir für Sie Berichte über die „Late-Breaking Trials“ und andere wichtige Studien zusammengestellt. 
Erweiterte Suche
Anmelden
nach oben
Drugs
Erschienen in: Drugs 12/2022

01.08.2022 | Review Article

Eye Involvement and Management in Inherited Epidermolysis Bullosa

verfasst von: Yasmine Bachir, Alejandra Daruich, Couanon Marie, Matthieu P. Robert, Dominique Bremond-Gignac

Erschienen in: Drugs | Ausgabe 12/2022

Einloggen, um Zugang zu erhalten

Abstract

Inherited epidermolysis bullosa (EB) is a group of genetic rare diseases associated with skin fragility, which leads to the formation of blisters, erosions, and scars on the skin and mucous membranes. Epidermolysis bullosa includes four main types and some several clinical subtypes including EB simplex, junctional EB, dystrophic EB, and Kindler’s EB. Ocular involvement ranged from 51 to 68% in EB and can cause irreversible damages if not properly managed. Corneal erosions are the most common finding among series, including our cohort. We review here clinical and pathological features of ocular involvement in EB and the main keys for management, with a focus on recent innovative therapies.
Literatur
1.
Has C, Fischer J. Inherited epidermolysis bullosa: new diagnostics and new clinical phenotypes. Exp Dermatol. 2019;28:1146–52.PubMedCrossRef
2.
Has C, et al. Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility. Br J Dermatol. 2020;183:614–27.PubMedCrossRef
3.
Mariath LM, Santin JT, Schuler-Faccini L, Kiszewski AE. Inherited epidermolysis bullosa: update on the clinical and genetic aspects. An Bras Dermatol. 2020;95:551–69.PubMedPubMedCentralCrossRef
4.
Fine J-D, Mellerio JE. Extracutaneous manifestations and complications of inherited epidermolysis bullosa. J Am Acad Dermatol. 2009;61:387–402.PubMedCrossRef
5.
Fine J-D, et al. Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification. J Am Acad Dermatol. 2014;70:1103–26.PubMedCrossRef
6.
Baum S, Sakka N, Artsi O, Trau H, Barzilai A. Diagnosis and classification of autoimmune blistering diseases. Autoimmun Rev. 2014;13:482–9.PubMedCrossRef
7.
Horner ME, Abramson AK, Warren RB, Swanson S, Menter MA. The spectrum of oculocutaneous disease. J Am Acad Dermatol. 2014;70(795): e1-795.e25.
8.
Fine J-D. Epidemiology of inherited epidermolysis bullosa based on incidence and prevalence estimates from the National Epidermolysis Bullosa Registry. JAMA Dermatol. 2016;152:1231.PubMedCrossRef
9.
10.
Pernet G. Involvement of the eyes in a case of epidermolysis bullosa. Ophthalmoscope. 1904;2:308–9.
11.
Rashad R, Weed MC, Quinn N, Chen VM. Extended wear bandage contact lenses decrease pain and preserve vision in patients with epidermolysis bullosa: case series and review of literature. Ocul Immunol Inflamm. 2020;28:379–83.PubMedCrossRef
12.
Kridin K, Kneiber D, Kowalski EH, Valdebran M, Amber KT. Epidermolysis bullosa acquisita: a comprehensive review. Autoimmun Rev. 2019;18:786–95.PubMedCrossRef
13.
Rousseau A, et al. Ocular involvement in epidermolysis bullosa acquisita with long-term follow-up. Br J Ophthalmol. 2020;104:235–40.PubMedCrossRef
14.
Adamis AP. Anterior corneal disease of epidermolysis bullosa simplex. Arch Ophthalmol. 1993;111:499.PubMedCrossRef
15.
De Pace B, et al. Inherited epidermolysis bullosa: description of clinical and subclinical morphological features with optical coherence tomography. J Eur Acad Dermatol Venereol. 2019;33:e120–3.PubMed
16.
Coulombe PA, Kerns ML, Fuchs E. Epidermolysis bullosa simplex: a paradigm for disorders of tissue fragility. J Clin Investig. 2009;119:1784–93.PubMedPubMedCentralCrossRef
17.
Fine J-D, et al. The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB. J Am Acad Dermatol. 2008;58:931–50.PubMedCrossRef
18.
Has C, et al. Kindler syndrome: extension of FERMT1 mutational spectrum and natural history. Hum Mutat. 2011;32:1204–12.PubMedCrossRef
19.
Fine J-D, et al. Eye involvement in inherited epidermolysis bullosa: experience of the National Epidermolysis Bullosa Registry. Am J Ophthalmol. 2004;138:254–62.PubMedCrossRef
20.
Figueira EC, Murrell DF, Coroneo MT. Ophthalmic involvement in inherited epidermolysis bullosa. Dermatol Clin. 2010;28:143–52.PubMedCrossRef
21.
Destro M, Wallow IHL, Brightbill FS. Recessive dystrophic epidermolysis bullosa. Arch Ophthalmol. 1987;105:1248–52.PubMedCrossRef
22.
Lee BWH, Tan JCK, Radjenovic M, Coroneo MT, Murrell DF. A review of scoring systems for ocular involvement in chronic cutaneous bullous diseases. Orphanet J Rare Dis. 2018;13:83.PubMedPubMedCentralCrossRef
23.
Bruckner-Tuderman L, Has C. Molecular heterogeneity of blistering disorders: the paradigm of epidermolysis bullosa. J Investig Dermatol. 2012;132:E2–5.PubMedCrossRef
24.
Has C, et al. Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa. Br J Dermatol. 2020;182:574–92.PubMedCrossRef
25.
Winter L, Wiche G. The many faces of plectin and plectinopathies: pathology and mechanisms. Acta Neuropathol. 2013;125:77–93.PubMedCrossRef
26.
Vahidnezhad H, et al. Dystrophic epidermolysis bullosa: COL7A1 mutation landscape in a multi-ethnic cohort of 152 extended families with high degree of customary consanguineous marriages. J Investig Dermatol. 2017;137:660–9.PubMedCrossRef
27.
Dang N, Murrell DF. Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa. Exp Dermatol. 2008;17:553–68.PubMedCrossRef
28.
29.
Laimer M, Lanschuetzer CM, Diem A, Bauer JW. Herlitz junctional epidermolysis bullosa. Dermatol Clin. 2010;28:55–60.PubMedCrossRef
30.
Yuen WY, Lemmink HH, van Dijk-Bos KK, Sinke RJ, Jonkman MF. Herlitz junctional epidermolysis bullosa: diagnostic features, mutational profile, incidence and population carrier frequency in the Netherlands. Br J Dermatol. 2011;165:1314–22.PubMedCrossRef
31.
Hammersen J, et al. Genotype, clinical course, and therapeutic decision making in 76 infants with severe generalized junctional epidermolysis bullosa. J Investig Dermatol. 2016;136:2150–7.PubMedCrossRef
32.
33.
Condorelli AG, Dellambra E, Logli E, Zambruno G, Castiglia D. Epidermolysis bullosa-associated squamous cell carcinoma: from pathogenesis to therapeutic perspectives. IJMS. 2019;20:5707.PubMedCentralCrossRef
34.
35.
Signes-Soler I, Rodriguez-Prats JL, Carbonell S, Tañá-Rivero P. Corneal erosion and Kindler syndrome. Optom Vis Sci. 2013;90:e9–10.PubMedCrossRef
36.
Lelli GJ. Kindler syndrome causing severe cicatricial ectropion. Ophthalmic Plast Reconstr Surg. 2010;26:368–9.PubMedCrossRef
37.
Tang JY, et al. A systematic literature review of the disease burden in patients with recessive dystrophic epidermolysis bullosa. Orphanet J Rare Dis. 2021;16:175.PubMedPubMedCentralCrossRef
38.
Silverberg M, Fan-Paul N, Kane S, Medow N. Junctional EB in the neonate: a case report. J Pediatr Ophthalmol Strabismus. 1999;36:219–20.PubMedCrossRef
39.
Thanos M, Pauklin M, Steuhl K-P, Meller D. Ocular surface reconstruction with cultivated limbal epithelium in a patient with unilateral stem cell deficiency caused by epidermolysis bullosa dystrophica Hallopeau-Siemens. Cornea. 2010;29:462–4.PubMedCrossRef
40.
Lin AN, Murphy F, Brodie SE, Carter DM. Review of ophthalmic findings in 204 patients with epidermolysis bullosa. Am J Ophthalmol. 1994;118:384–90.PubMedCrossRef
41.
Granek H, Baden HP. Corneal involvement in epidermolysis bullosa simplex. Arch Ophthalmol. 1980;98:469–72.PubMedCrossRef
42.
McDonnell PJ. Eye involvement in junctional epidermolysis bullosa. Arch Ophthalmol. 1989;107:1635.PubMedCrossRef
43.
Smith KAV, Jones SM, Nischal KK. Refractive and ocular motility findings in children with epidermolysis bullosa. Am Orthop J. 2009;59:76–83.CrossRef
44.
Mellado F, Fuentes I, Palisson FI, Vergara J, Kantor A. Ophthalmologic approach in epidermolysis bullosa: a cross-sectional study with phenotype–genotype correlations. Cornea. 2018;37:442–7.PubMedCrossRef
45.
Gans LA. Eye lesions of epidermolysis bullosa. Clinical features, management, and prognosis. Arch Dermatol. 1988;124:762–4.PubMedCrossRef
46.
El Hachem M, et al. Kindler syndrome with severe mucosal involvement in a large Palestinian pedigree. Eur J Dermatol. 2015;25:14–9.PubMedCrossRef
47.
Jen M, Nallasamy S. Ocular manifestations of genetic skin disorders. Clin Dermatol. 2016;34:242–75.PubMedCrossRef
48.
Jones SM, et al. The frequency of signs of meibomian gland dysfunction in children with epidermolysis bullosa. Ophthalmology. 2016;123:991–9.PubMedCrossRef
49.
Sravani NG, Mohamed A, Sangwan VS. Type 1 Boston keratoprosthesis for limbal stem cell deficiency in epidermolysis bullosa. Ocul Immunol Inflamm. 2019;27:282–4.PubMedCrossRef
50.
Basu S, Taneja M, Narayanan R, Senthil S, Sangwan V. Short-term outcome of Boston Type 1 keratoprosthesis for bilateral limbal stem cell deficiency. Indian J Ophthalmol. 2012;60:151.PubMedPubMedCentralCrossRef
51.
Fung SSM, et al. Visual outcomes and complications of type I Boston keratoprosthesis in children. Ophthalmology. 2018;125:153–60.PubMedCrossRef
52.
53.
Koulisis N, Moysidis SN, Siegel LM, Song JC. Long-term follow-up of amniotic membrane graft for the treatment of symblepharon in a patient with recessive dystrophic epidermolysis bullosa. Cornea. 2016;35:1242–4.PubMedCrossRef
54.
55.
Motley WW, Vanderveen DK, West CE. Surgical management of infantile cataracts in dystrophic epidermolysis bullosa. J Am Assoc Pediatr Ophthalmol Strabismus. 2010;14:283–4.CrossRef
56.
57.
Gretzmeier C, et al. Systemic collagen VII replacement therapy for advanced recessive dystrophic epidermolysis bullosa. J Investig Dermatol. 2022;142:1094-1102.e3.PubMedCrossRef
58.
Lwin SM, et al. Safety and early efficacy outcomes for lentiviral fibroblast gene therapy in recessive dystrophic epidermolysis bullosa. JCI Insight. 2019;4: e126243.PubMedCentralCrossRef
59.
60.
61.
Mavilio F, et al. Correction of junctional epidermolysis bullosa by transplantation of genetically modified epidermal stem cells. Nat Med. 2006;12:1397–402.PubMedCrossRef
62.
63.
64.
Irak I, Soll SM, Camacho JM. Junctional epidermolysis bullosa in a young patient. J Pediatr Ophthalmol Strabismus. 2003;40:168–9.PubMedCrossRef
65.
Mb MEH, Turner TW, Pyne RJ. A case of junctional epidermolysis bullosa (Herlitz–Pearson) with corneal bullae. Aust N Z J Ophthal. 1984;12:45–8.CrossRef
66.
Auringer DE, Simon JW, Meyer DR, Malone A. Ptosis and ophthalmoplegia associated with epidermolysis bullosa simplex-muscular dystrophy. Ophthalmic Plast Reconstr Surg. 2010;26:488–9.PubMedCrossRef
Metadaten
Titel
Eye Involvement and Management in Inherited Epidermolysis Bullosa
verfasst von
Yasmine Bachir
Alejandra Daruich
Couanon Marie
Matthieu P. Robert
Dominique Bremond-Gignac
Publikationsdatum
01.08.2022
Verlag
Springer International Publishing
Erschienen in
Drugs / Ausgabe 12/2022
Print ISSN: 0012-6667
Elektronische ISSN: 1179-1950
DOI
https://doi.org/10.1007/s40265-022-01770-8

Weitere Artikel der Ausgabe 12/2022

Drugs 12/2022 Zur Ausgabe

Therapy in Practice

Treatment of Cryptococcal Meningitis: How Have We Got Here and Where are We Going?

AdisInsight Report

Linzagolix: First Approval

Correction

Correction to: Ozanimod: A Review in Ulcerative Colitis

Adis Drug Evaluation

Ozanimod: A Review in Ulcerative Colitis

AdisInsight Report

Amubarvimab/Romlusevimab: First Approval

Systematic Review

Antithrombotic Therapy for Symptomatic Peripheral Arterial Disease: A Systematic Review and Network Meta-Analysis