Dystrophic epidermolysis bullosa (DEB) is a rare group of heritable mechanobullous disorders that are characterized by blistering and scarring of the skin and mucosae and these lesions are induced by minor trauma, DEB is also associated with nail dystrophy. DEB can be inherited either in an autosomal recessive or dominant fashion. Regardless of the mode of inheritance, DEB is caused by defects of the ultrastructural entity known as the anchoring fibril, which results in separation of the sublamina densa. Recessive DEB (RDEB) is classified into Hallopeau-Siemens and non-Hallopeau-Siemens. We herein report on a case of non-Hallopeau-Siemens RDEB and there was no family history of this malady, and we present the clinical, histological and electron microscopy findings.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2883369 | PMC |
| http://dx.doi.org/10.5021/ad.2009.21.1.49 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Identical COL71A1 heterozygous mutations resulting in different dystrophic epidermolysis bullosa phenotypes.
Pediatr Dermatol
March 2018
Department of Dermatology, Hospital Infantil Universitario Niño Jesús, Madrid, Spain.
Dystrophic epidermolysis bullosa is a rare blistering condition caused by mutations in the COL7A1 gene. Different clinical variants have been described, with dominant and recessive inheritance, but no consistent findings have been elucidated to establish a genotype-phenotype correlation. We present three unrelated patients with two identical pathogenic compound heterozygous mutations in the COL7A1 gene that developed different clinical forms of dystrophic epidermolysis bullosa-epidermolysis bullosa pruriginosa and mild recessive non-Hallopeau-Siemens-raising the possibility of other genetic or environmental modifying factors responsible for the phenotype of the disease.
View Article and Find Full Text PDF[Recessive epidermolysis bullosa due to composite heterozygote mutations in the COL7A1 gene].
Ann Dermatol Venereol
May 2015
EA3181, service de dermatologie, CHU, université de Franche-Comté, 3, boulevard Alexandre-Fleming, 25030 Besançon cedex, France. Electronic address:
Background: Dystrophic epidermolysis bullosa (DEB) is a genodermatosis characterized by various abnormalities of anchoring fibrils, composed mainly of type VII collagen, at the dermal-epidermal junction. These changes are induced by mutations in the type VII collagen gene (COL7A1).
Patients And Methods: A new-born boy was diagnosed with recessive DEB on the basis of typical skin lesions composed of multiple blisters with erosions on trauma-exposed body sites, including the hands and feet and the navel.
A case of non-hallopeau-siemens recessive dystrophic epidermolysis bullosa.
Ann Dermatol
February 2009
Department of Dermatology, College of Medicine, Dongguk University, Gyeongju, Korea.
Dystrophic epidermolysis bullosa (DEB) is a rare group of heritable mechanobullous disorders that are characterized by blistering and scarring of the skin and mucosae and these lesions are induced by minor trauma, DEB is also associated with nail dystrophy. DEB can be inherited either in an autosomal recessive or dominant fashion. Regardless of the mode of inheritance, DEB is caused by defects of the ultrastructural entity known as the anchoring fibril, which results in separation of the sublamina densa.
View Article and Find Full Text PDFThe risk of cardiomyopathy in inherited epidermolysis bullosa.
Br J Dermatol
September 2008
The National Epidermolysis Bullosa Registry, Nashville, TN, USA.
Background: Case reports have suggested that cardiomyopathy may be a complication of recessive dystrophic epidermolysis bullosa (RDEB).
Objective: To determine the risk of congestive heart failure (CHF) or cardiomyopathy in each major EB subtype.
Methods: These data represent systematic case findings and data collection performed throughout the continental United States from 1986 through 2002, by the National Epidermolysis Bullosa Registry.
Significance of sentinel node biopsy in the management of squamous cell carcinoma arising from recessive dystrophic epidermolysis bullosa.
J Dermatol
June 2008
Department of Dermatology, Hirosaki University Graduate School of Medicine, Hirosaki, Japan.
The most life-threatening complication developing in patients with recessive dystrophic epidermolysis bullosa (RDEB) is squamous cell carcinoma (SCC). To improve patient prognosis, early detection of regional lymph node metastasis is required. Herein, we report a patient diagnosed with non-Hallopeau-Siemens RDEB who developed SCC on the left foot with inguinal lymph node swelling.
View Article and Find Full Text PDFWant 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!