1/28. Intraepidermal expression of basement membrane components in the lesional skin of a patient with dystrophic epidermolysis bullosa.The patient was a 15-year-old male. Since birth, he had developed blistering and erosion of the skin. biopsy skin specimen of the bullous lesions showed subepidermal blister formation. Electron microscopic examination revealed that tissue separation had occurred at the sublamina densa level. By indirect immunofluorescence using antibodies specific for alpha 6 integrin, laminin 5, type IV collagen, and type VII collagen, all of these basement membrane components were detected as coarse granular intracytoplasmic deposits only in the basal and suprabasal cells of the blister roof. In the non-blistered regions, these basement membrane components showed a linear pattern similar to that seen in normal skin. These findings suggest that intraepidermal expression of basement membrane components was closely related to the blister formation. The biological meaning of intraepidermal expression of basement membrane components were also discussed.- - - - - - - - - - ranking = 1keywords = membrane (Clic here for more details about this article) |
2/28. A recurrent frameshift mutation in exon 19 of the type VII collagen gene (COL7A1) in Mexican patients with recessive dystrophic epidermolysis bullosa.Dystrophic epidermolysis bullosa (DEB) is an inherited blistering skin disorder caused by mutations in the type VII collagen gene (COL7A1). In this study, we determined the molecular basis of autosomal recessive DEB in a 19-year-old Hispanic Mexican woman by PCR amplification of genomic dna, heteroduplex analysis, and automated sequencing of heteroduplex bandshifts. This approach revealed a homozygous frameshift mutation, 2470insG, in exon 19 of COL7A1 and resulted in attenuated basement membrane zone expression of type VII collagen, a reduced number of anchoring fibrils at the dermal-epidermal junction, and a sub-lamina densa level of blister formation. Clinically, the patient had widespread trauma-induced skin fragility and complete loss of the nails, but had less pseudosyndactyly of the fingers and toes and milder mucosal involvement compared to most patients with the generalized form of this genodermatosis. We also screened 7 other Hispanic-Mexican patients with recessive DEB, none of whom were known to be related to this individual, for the mutation 2470insG using heteroduplex analysis and direct sequencing and detected this mutation on 7/14 alleles. Haplotype analysis using intragenic COL7A1 and flanking polymorphisms and microsatellite markers revealed that all the mutant alleles had arisen on similar allelic backgrounds, consistent with propagation of a common Hispanic Mexican ancestral haplotype. In view of the high allelic frequency of the mutation 2470insG in the patients studied, we recommend initial screening for this mutation when attempting to identify the molecular pathology of recessive DEB in Hispanic Mexican patients.- - - - - - - - - - ranking = 0.125keywords = membrane (Clic here for more details about this article) |
3/28. Surgical treatment of pseudosyndactyly of the hand in epidermolysis bullosa: histological analysis of an acellular allograft dermal matrix.Recessive dystrophic epidermolysis bullosa is an inherited mechanobullous disorder of skin and mucous membranes. The most striking clinical characteristic of the disease is the formation of blisters following trivial trauma. Repeated cycles of blistering and scarring result in gradual encasement of the hand in an epidermal "cocoon." The authors treated an 11-year-old boy with recessive dystrophic epidermolysis bullosa who presented with hand contractures and interdigital pseudosyndactyly. Treatment included release of contractures and application of a biosynthetic dermal analog. This report is a histological analysis of the dermal matrix 1 year after initial placement of the allograft. fibroblasts repopulating the dermal allograft had a normal synthetic phenotype and lacked the myofibroblastic features seen in the ungrafted control biopsy. Collagen and elastin in the repopulated dermal allograft had normal dermal orientation and maturity in contrast to the sparse, immature collagen and lack of elastin compared with the dermis of an ungrafted control region. Results of this histological study indicate that treatment of recessive dystrophic epidermolysis bullosa with an acellular human dermal allograft may restore some features of normal dermal architecture. Although the initial results are encouraging, longer follow-up is required before definitive conclusions can be made.- - - - - - - - - - ranking = 0.125keywords = membrane (Clic here for more details about this article) |
4/28. Clinical application of amniotic membranes on a patient with epidermolysis bullosa.The case of a patient with dystrophic epidermolysis bullosa treated with radiosterilised amniotic membranes is presented. The disorder is a congenital disease characterised by a poor desmosomal junction in the keratinocyte membrane. After proper donor screening, amnios were collected at Hospital Central Sur de Alta Especialidad (HCSAE), PEMEX and microbiological analysis was performed at Universidad Nacional Autonoma de mexico, FQUNAM, (biology Dept. of the chemistry faculty, National Autonomous University of mexico), before and after radiation sterilisation. Processing, packaging and sterilisation were performed at Instituto Nacional de Investigaciones Nucleares, ININ, (National Nuclear research Institute). The patient, a ten-year-old boy with severe malnutrition, extensive loss of skin and pseudomonad infection in the whole body, was treated with gentle debridement in a Hubbard bath. Later amnion application was performed with sterilised amnios by using two different processes, in one of which the amnion was sterilised with paracetic acid, preserved in glycerol, kindly donated by the German Institute for Tissue and Cell Replacement and applied by Dr. Johannes C. Bruck, IAEA visiting expert, and the other amnion was processed at ININ: air dried and sterilised by gamma radiation at dose of 30 kGy. After spontaneous epithelisation was successfully promoted for seven days, the pain was alleviated and mobility was improved in a few hours and the patient's general condition was so improved that in a month he was discharged. Unfortunately, because this disease is revertive and has malignant degeneration, the prognosis is not good.- - - - - - - - - - ranking = 0.75keywords = membrane (Clic here for more details about this article) |
5/28. Splice site mutation in the type VII collagen gene (COL7A1) in a Taiwanese family with recessive dystrophic epidermolysis bullosa.BACKGROUND AND PURPOSE: Generalized recessive dystrophic epidermolysis bullosa (RDEB) is a severe inherited disease, in which patients suffer from blistering and scarring of the skin and mucous membranes after minor mechanical trauma. Tight genetic linkage has been established to the type VII collagen gene (COL7A1) at 3p21. The purpose of this study was to identify mutations in COL7A1 in one Taiwanese pedigree with generalized RDEB. methods: Genomic dna was used as the template for polymerase chain reaction (PCR) amplification of all 118 COL7A1 exons and the flanking splice junctions. PCR was followed by heteroduplex analysis of the products by single-strand conformation polymorphism (SSCP) studies, and direct nucleotide sequencing was used to search for mutations, which were verified by restriction endonuclease digestion. RESULTS: We identified a homozygous intronic splice-site at the 1 position of intron 5 (682 1G-->A) of COL7A1 in the affected individual. His parents, who were cousins, were not affected by this disease. The mother was heterozygous for the mutation; the father had died before the study, of unrelated causes. This mutation results in a frameshift and downstream stop codons on both alleles, indicating an absence of functional protein. Restriction endonuclease BspHI can be used to verify this mutation and screen other members in the same family. CONCLUSIONS: These molecular findings offer a genetic explanation for the skin fragility in this Taiwanese patient with RDEB. The immediate benefits gained by elucidating mutations in family members include the ability to assess whether they are carriers of this disease and the ability to use this dna-based method for prenatal testing in subsequent pregnancies.- - - - - - - - - - ranking = 0.125keywords = membrane (Clic here for more details about this article) |
6/28. Characterization of mutations of the type VII collagen gene (COL7A1) in recessive dystrophic epidermolysis bullosa mitis (M-RDEB) from three Korean patients.In recent years, the molecular basis for the main subtypes of epidermolysis bullosa (EB) has been elucidated with pathogenetic mutations delineated in ten different genes encoding structural components of the dermal-epidermal junction. Both the autosomal dominant and recessive forms of dystrophic EB (DEB) is caused by mutations in the COL7A1 gene. Type VII collagen is a major component of anchoring fibrils, structural elements that stabilize the attachment of the basement membrane to underlying dermis. Recent delineation of the exon-intron organization of the COL7A1 gene provided the basis for the comprehensive design of PCR primer pairs that amplified exons in genomic dna by placing the primers on the flanking introns. A number of COL7A1 mutations have been reported and some genotype-phenotype correlations are starting to emerge. In this study, we examined mutational analyses from three Korean patients with recessive dystrophic EB (RDEB) mitis. We designed and optimized primers according to the previously reported sequences. Such PCR amplification products can be examined by electrophoretic scanning technique, CSGE heteroduplex analyses. Utilizing heteroduplex analyses, we have identified a number of sequence variants in COL7A1 both in unaffected individuals and in patients with M-RDEB. Mutation detection of the COL7A1 gene revealed six allelic mutations (V6677E, P6685S, Y3749S, P6084S, P6695R and G6697C). We suggest that the full length of type VII collagen polypeptide are synthesized, but those missense mutations, that may affect a critical amino acid, can alter the conformation of the protein and interferes with the assembly and packing of type VII collagen molecules into anchoring fibrils. Immunohistochemical study of skin biopsies by use of anti-type VII collagen antibody showed markedly reduced staining and presence of a dermo/epidermal cleavage. This is the first report of a COL7A1 mutation study in DEB from Korean patients. We hope that these data contribute to the expanding database on COL7A1 mutations in dystrophic epidermolysis bullosa, and further illustrate the extensive diversity of mutational events that led to the RDEB phenotype.- - - - - - - - - - ranking = 0.125keywords = membrane (Clic here for more details about this article) |
7/28. Recessive epidermolysis bullosa dystrophicans (Hallopeau-Siemens)--improvement of wound healing by autologous epidermal grafts on an esterified hyaluronic acid membrane.Epidermolysis bullosa dystropicans of the Hallopeau-Siemens type (HS-EBD) is an autosomal-recessive blistering disease. skin fragility due to mutations in structural proteins is responsible for further development of chronic and painful wounds, skin infections and sepsis. There is no causative treatment available. We present a case report with HS-EBD and longstanding painful wounds treated with autologous keratinocytes on an esterified hyaluronic acid membrane. Two out of three wounds treated showed a complete take of the graft. They improved markedly with a stable result over 12 months until now. Even autologous keratinocyte grafting may have a beneficial effect on chronic wounds in HS-EBD despite the fact that the genetic defects are unchanged.- - - - - - - - - - ranking = 0.625keywords = membrane (Clic here for more details about this article) |
8/28. Anesthetic implications in epidermolysis bullosa dystrophica.Epidermolysis bullosa is a genetic mechanobullous disease of the stratified squamous keratinizing epithelium that affects the skin and mucous membranes. Its primary feature is the formation of blisters after minor shearing trauma to the skin or mucous membranes that can result in debilitating, even life-threatening scarring. The disease presents special problems for the anesthesia provider because the equipment used to deliver anesthesia and monitor vital signs may cause serious postoperative complications. The challenge is to maintain patency of the airway and use monitoring technology without damaging epithelial surfaces, which could result in permanent scarring. Successful anesthetic management of a patient with epidermolysis bullosa is possible if precautions with anesthetic instrumentation are observed.- - - - - - - - - - ranking = 0.25keywords = membrane (Clic here for more details about this article) |
9/28. Intraepidermal collagen type vii in dystrophic epidermolysis bullosa: report of five new cases.The presence of intraepidermal collagen type vii has recently been used to define a subgroup of patients with mild dystrophic epidermolysis bullosa (DEB). This subgroup demonstrates virtual resolution of blistering during infancy despite often severe neonatal blistering. Using the antibody LH7.2, we have detected intraepidermal collagen type vii in five cases with DEB. These represent a much wider spectrum of clinical features and of intraepidermal and basement membrane zone (BMZ) staining patterns. Only one of our cases had features consistent with reported cases. Sequential skin biopsies from this case showed a marked change towards normal within 6 months of birth, paralleling the clinical improvement. The other four cases had sparse epidermal deposits of collagen type vii and included an affected foetus with autosomal recessive DEB. These findings suggest that the frequency of intraepidermal LH7.2 in DEB may be much higher than previously thought. The presence of abundant intraepidermal collagen type vii is of prognostic significance and can disappear over months. We recommend that biopsies of infants suspected of having EB are taken during the neonatal period.- - - - - - - - - - ranking = 0.125keywords = membrane (Clic here for more details about this article) |
10/28. Dystrophic epidermolysis bullosa: oral findings and problems.Dystrophic epidermolysis bullosa (DEB) is one of the three major types of epidermolysis bullosa (EB), an inherited cutaneous disease with blister formation following minor trauma. A subtype of DEB is recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type (RDEB-HS), where marked scarring leads to deformities of extremities. In RDEB-HS the mucous membranes may also be involved and form adhesions with ankyloglossia and microstomia. oral hygiene is difficult. A 7-year-old boy with RDEB-HS was brought to the Johannes Gutenberg University dental clinic with dental pain. He had multiple carious lesions, poor oral hygiene and gingivitis. Because he was noncompliant and had microstomia, he required dental therapy under general anesthesia. The recall visits over the past two years had demonstrated that the dental health of this patient with RDEB-HS could be maintained by means of improved oral home care, using antibacterial agents.- - - - - - - - - - ranking = 0.125keywords = membrane (Clic here for more details about this article) |
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