It is well known, primarily via case reports and limited case series, that nonepithelial tissues may become injured in patients with epidermolysis bullosa. Only recently, however, have there been data generated from large, well characterized cohorts. Our objective is to provide dermatologists with a comprehensive review of each of these major extracutaneous complications, with a summary of the pertinent literature and evidence-based recommendations for surveillance, evaluation, and management. Some epidermolysis bullosa subtypes are at risk for severe injury of the bone marrow, musculoskeletal system, heart, kidney, and teeth, and for the development of squamous cell carcinoma, basal cell carcinoma, or malignant melanoma. If untreated, significant morbidity or mortality may result.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.jaad.2009.03.053 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
When care hurts: parents' experiences of caring for a child with epidermolysis bullosa.
Orphanet J Rare Dis
December 2024
Department of Medical Genetics, Telemark Hospital Trust, Skien, Norway.
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.
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 PDFKLHL24 associated cardiomyopathy: Gene function to clinical management.
Gene
December 2024
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.
Milia En Plaque After Bullous Pemphigoid: An Unusual Sequela.
Cureus
November 2024
Dermatology, Texas Tech University Health Sciences Center, Lubbock, USA.
We present the case of a 36-year-old paraplegic woman with a history of spinal cord injury who developed a generalized blistering rash, later diagnosed as bullous pemphigoid (BP). During her hospitalization, she was treated with prednisone and rituximab infusions, transitioning to maintenance therapy with topical steroids, doxycycline, and nicotinamide. A year later, she presented with concerns about a BP flare on her feet.
View Article and Find Full Text PDFCorrelation between measured oral health and oral health-related quality of life in people with epidermolysis bullosa: a prospective cohort study.
BMC Oral Health
December 2024
Department of Cranio-Maxillofacial Surgery, University Hospital Münster, Münster, Germany.
Background: Inherited epidermolysis bullosa (EB) is a genetic disorder characterized by skin fragility and unique oral features. This prospective study aimed to analyze the correlation between oral health-related quality of life (OHRQoL) and the objectively measured oral health indices of people suffering from EB and within their subtypes.
Methods: The German version of the Oral Health Impact Profile (OHIP-14G) was employed for the assessment of OHRQoL.
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!