Universidad del Desarrollo

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Orofacial Anomalies in Kindler Epidermolysis Bullosa
(2024)
Susanne Krämer
;
Anna Lena Hillebrecht
;
Yao Wang
;
Mihail-Alexandru Badea
;
Jose Ignacio Barrios
<jats:sec id="ab-dbr240002-4"><jats:title>Importance</jats:title><jats:p>Kindler epidermolysis bullosa is a genetic skin-blistering disease associated with recessive inherited pathogenic variants in <jats:italic>FERMT1</jats:italic>, which encodes kindlin-1. Severe orofacial manifestations of Kindler epidermolysis bullosa, including early oral squamous cell carcinoma, have been reported.</jats:p></jats:sec><jats:sec id="ab-dbr240002-5"><jats:title>Objective</jats:title><jats:p>To determine whether hypoplastic pitted amelogenesis imperfecta is a feature of Kindler epidermolysis bullosa.</jats:p></jats:sec><jats:sec id="ab-dbr240002-6"><jats:title>Design, Settings, and Participants</jats:title><jats:p>This longitudinal, 2-center cohort study was performed from 2003 to 2023 at the Epidermolysis Bullosa Centre, University of Freiburg, Germany, and the Special Care Dentistry Clinic, University of Chile in association with DEBRA Chile. Participants included a convenience sampling of all patients with a diagnosis of Kindler epidermolysis bullosa.</jats:p></jats:sec><jats:sec id="ab-dbr240002-7"><jats:title>Main Outcomes and Measures</jats:title><jats:p>The primary outcomes were the presence of hypoplastic pitted amelogenesis imperfecta, intraoral wounds, gingivitis and periodontal disease, gingival hyperplasia, vestibular obliteration, cheilitis, angular cheilitis, chronic lip wounds, microstomia, and oral squamous cell carcinoma.</jats:p></jats:sec><jats:sec id="ab-dbr240002-8"><jats:title>Results</jats:title><jats:p>The cohort consisted of 36 patients (15 female [42%] and 21 male [58%]; mean age at first examination, 23 years [range, 2 weeks to 70 years]) with Kindler epidermolysis bullosa. The follow-up ranged from 1 to 24 years. The enamel structure was assessed in 11 patients, all of whom presented with enamel structure abnormalities. The severity of hypoplastic pitted amelogenesis imperfecta varied from generalized to localized pitting. Additional orofacial features observed include gingivitis and periodontal disease, which was present in 90% (27 of 30 patients) of those assessed, followed by intraoral lesions (16 of 22 patients [73%]), angular cheilitis (24 of 33 patients [73%]), cheilitis (22 of 34 patients [65%]), gingival overgrowth (17 of 26 patients [65%]), microstomia (14 of 25 patients [56%]), and vestibular obliteration (8 of 16 patients [50%]). Other features included chronic lip ulcers (2 patients) and oral squamous cell carcinoma with lethal outcome (2 patients).</jats:p></jats:sec><jats:sec id="ab-dbr240002-9"><jats:title>Conclusions and Relevance</jats:title><jats:p>These findings suggest that hypoplastic pitted amelogenesis imperfecta is a feature of Kindler epidermolysis bullosa and underscore the extent and severity of oral manifestations in Kindler epidermolysis bullosa and the need for early and sustained dental care.</jats:p></jats:sec>
Scopus© Citations 13 2
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Multidisciplinary care of epidermolysis bullosa during the COVID-19 pandemic—Consensus: Recommendations by an international panel of experts
(2020)
Dedee F. Murrell
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Anne W. Lucky
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Julio C. Salas-Alanis
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David T. Woodley
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FRANCIS PALISSON ETCHARREN
Scopus© Citations 8 4
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Epidermolysis Bullosa Simplex with KLHL24 Mutations Is Associated with Dilated Cardiomyopathy
(2019)
Agnes Schwieger-Briel
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FUENTES BUSTOS, MARIA IGNACIA
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Daniele Castiglia
;
Antonio Barbato
;
Matthias Greutmann
Scopus© Citations 32 1
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APOBEC mutation drives early-onset squamous cell carcinomas in recessive dystrophic epidermolysis bullosa
(2018)
Raymond J. Cho
;
Ludmil B. Alexandrov
;
Nicoline Y. den Breems
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Velina S. Atanasova
;
Mehdi Farshchian
<jats:p>Early-onset squamous cell carcinoma in recessive dystrophic epidermolysis bullosa patients is characterized by APOBEC mutagenesis.</jats:p>
5Scopus© Citations 100
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Epidermolysis bullosa simplex-generalized severe type due to keratin 5 p.Glu477Lys mutation: Genotype-phenotype correlation and in silico modeling analysis
(2019)
Leah Lalor
;
Matthias Titeux
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FRANCIS PALISSON ETCHARREn
;
Ignacia Fuentes
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María J. Yubero
Scopus© Citations 13 1
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Identification of Rigosertib for the Treatment of Recessive Dystrophic Epidermolysis Bullosa-Associated Squamous Cell Carcinoma
(2019)
Velina S. Atanasova
;
Celine Pourreyron
;
Mehdi Farshchian
;
Michael Lawler
;
Christian A. Brown
<jats:title>Abstract</jats:title> <jats:sec> <jats:title>Purpose:</jats:title> <jats:p>Squamous cell carcinoma (SCC) of the skin is the leading cause of death in patients with the severe generalized form of the genetic disease recessive dystrophic epidermolysis bullosa (RDEB). Although emerging data are identifying why patients suffer this fatal complication, therapies for treatment of RDEB SCC are in urgent need.</jats:p> <jats:p>Experimental Design: We previously identified polo-like kinase 1 (PLK1) as a therapeutic target in skin SCC, including RDEB SCC. Here, we undertake a screen of 6 compounds originally designated as PLK1 inhibitors, and detail the efficacy of the lead compound, the multipathway allosteric inhibitor ON-01910, for targeting RDEB SCC in vitro and in vivo.</jats:p> </jats:sec> <jats:sec> <jats:title>Results:</jats:title> <jats:p>ON-01910 (or rigosertib) exhibited significant specificity for RDEB SCC: in culture rigosertib induced apoptosis in 10 of 10 RDEB SCC keratinocyte populations while only slowing the growth of normal primary skin cells at doses 2 orders of magnitude higher. Furthermore, rigosertib significantly inhibited the growth of two RDEB SCC in murine xenograft studies with no apparent toxicity. Mechanistically, rigosertib has been shown to inhibit multiple signaling pathways. Comparison of PLK1 siRNA with MEK inhibition, AKT inhibition, and the microtubule-disrupting agent vinblastine in RDEB SCC shows that only PLK1 reduction exhibits a similar sensitivity profile to rigosertib.</jats:p> </jats:sec> <jats:sec> <jats:title>Conclusions:</jats:title> <jats:p>These data support a "first in RDEB" phase II clinical trial of rigosertib to assess tumor targeting in patients with late stage, metastatic, and/or unresectable SCC.</jats:p> </jats:sec>
24Scopus© Citations 32

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