Epidermolysis bullosa (EB) is a rare congenital disease characterized by the formation of blisters following minimal trauma. Oral health can be compromised by oral bullae, perioral fibrosis, ankyloglossia, and a high risk for dental caries, all of which lead to a decreased quality of life. The purpose of this paper is to report the case of an 11-year-old female who presented with autosomal recessive dystrophic EB. Besides the skin manifestations, the extra- and intra-oral exams revealed lesions on the lips and mucosa, microstomia, ankyloglossia, depapillated tongue, and carious teeth. This case emphasizes that patients diagnosed with EB require multidisciplinary care, with the dentist playing an important role in oral health management.

Download full-text PDF

Source

Publication Analysis

Top Keywords

epidermolysis bullosa
8
oral health
8
oral
4
oral manifestations
4
manifestations challenges
4
challenges dental
4
dental treatment
4
treatment epidermolysis
4
bullosa dystrophica
4
dystrophica epidermolysis
4

Similar Publications

Background: Epidermolysis bullosa (EB) is a serious, painful, hereditary and still incurable genetic condition. Due to blistering or wounds on the skin caused by the slightest touch, a person suffering from epidermolysis bullosa is prevented from achieving the same quality of life as a healthy person. Until now, psychosocial research has focused on the description of the problems of people living with the disease.

View Article and Find Full Text PDF

Filsuvez (birch triterpenes) topical gel received approval in 2023 for the treatment of epidermolysis bullosa (EB) in pediatric patients (aged ≥6 months) and adults. It promotes wound healing by modulating inflammation, encouraging new tissue formation, and maintaining the skin barrier. In a randomized, double-blind, controlled, parallel-group, phase III trial (EASE, NCT03068780), 223 patients were randomly assigned to two groups: the first group received treatment with birch triterpenes topical gel (study gel, n = 109), and the second group received treatment with vehicle gel (n = 114).

View Article and Find Full Text PDF

Background: Epidermolysis bullosa (EB) comprises a group of genetically and clinically heterogeneous diseases characterized by skin fragility and blistering. EB is incurable, and treatment consists of preventing blisters in addition to painful and time consuming skin care, often performed by the parents, in addition to monitoring other symptoms in cases of severe EB.

Results: The purpose of this study was to explore parental experiences of caring for a child with EB.

View Article and Find Full Text PDF

Advanced phasing techniques in congenital skin diseases.

J Dermatol

December 2024

Department of Dermatology, Faculty of Medicine and Graduate School of Medicine, Hokkaido University, Sapporo, Japan.

Phasing, the process of determining which alleles at different loci on homologous chromosomes belong together on the same chromosome, is crucial in the diagnosis and management of autosomal recessive diseases. Advances in long-read sequencing technologies have significantly enhanced our ability to accurately determine haplotypes. This review discusses the application of low-coverage long-read sequencing, nanopore Cas9-guided long-read sequencing, and adaptive sampling in phasing, highlighting their utility in complex clinical scenarios.

View Article and Find Full Text PDF

KLHL24 associated cardiomyopathy: Gene function to clinical management.

Gene

March 2025

Department of Genetics, College of Basic Medical Sciences, Jilin University, Changchun, Jilin, 130021, China. Electronic address:

Background: KLHL24 (Kelch-like protein 24) is a significant component of the ubiquitin-proteasome system (UPS), involved in regulating protein turnover through targeted ubiquitination and degradation. Germline mutations in KLHL24 gene have been known to cause Epidermolysis Bullosa Simplex characterized by skin fragility but has recently been found to cause Cardiomyopathy.

Main Body: Various cardiomyopathies, including hypertrophic cardiomyopathy and dilated cardiomyopathy, leading to abnormal protein degradation and affecting the stability and function of essential cardiac proteins which finally results into structural and functional abnormalities in cardiac muscle.

View Article and Find Full Text PDF

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!