1/47. Three new cases of transient bullous dermolysis of the newborn.We present 3 new patients with transient bullous dermolysis of the newborn (TBDN), which is a form of dystrophic epidermolysis bullosa. TBDN may be diagnosed by electron microscopy showing a sublamina densa cleavage; immunofluorescence antigenic mapping demonstrating bullous pemphigoid antigen, laminin- 1, and type IV collagen along the epidermal roof of subepidermal clefts; and indirect immunofluorescence with monoclonal antibodies revealing intraepidermal type VII collagen. Although intraepidermal type VII collagen has been reported in other forms of dystrophic epidermolysis bullosa, we believe that the presence of type VII collagen in a striking intraepidermal granular array is a finding unique to TBDN. Our cases demonstrate the importance of immunodermatologic studies in the diagnosis of bullous disorders that are seen at birth because accurate diagnosis carries prognostic implications. This variant of epidermolysis bullosa, in contrast to other forms of dystrophic epidermolysis bullosa, is a benign, self-limited disease.- - - - - - - - - - ranking = 1keywords = lamina (Clic here for more details about this article) |
2/47. 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 = 5.3135662442531keywords = lamina, membrane (Clic here for more details about this article) |
3/47. 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 = 2.1374430487031keywords = lamina, mucosa, membrane (Clic here for more details about this article) |
4/47. 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 = 51.298674486248keywords = mucous membrane, membrane (Clic here for more details about this article) |
5/47. Periodontal plastic surgery in a dystrophic epidermolysis bullosa patient: review and case report.epidermolysis bullosa (EB) is a group of genetic disorders in which patients frequently present with fragile skin and mucosal surfaces that blister following minor trauma; 23 subtypes have been recognized, but their precise pathogenesis and etiology remain obscure. There is no treatment for EB, only palliative therapy. Oral bullae are the most common oral finding and affect all surfaces. patients with EB present a unique challenge in terms of periodontal therapy. The following article reviews this disorder and describes the complications encountered when providing periodontal plastic surgery to a patient exhibiting this condition. A 36-year-old female with dystrophic EB presented for treatment of a 3 mm recession area with minimal attached gingiva on the facial of #24 and 25. Oral evaluation revealed multiple ulcers. The treatment consisted of a subepithelial connective tissue graft in conjunction with a coronally positioned flap and buccal frenectomy. Most of the epithelium associated with the surgical area and buccal vestibule sloughed. During the postoperative course, the frenum had regenerated at a more coronal level and was applying tension on the gingival tissues. It appeared that a connective tissue union had formed between the de-epithelialized surface of the facial flap and the buccal mucosa of the vestibule. A second frenectomy was performed, and a clear acrylic stent was fabricated to prevent the union of the connective tissue of the facial flap to the buccal mucosa. The stent prevented the fusion of both connective tissue layers and allowed time for epithelium migration.- - - - - - - - - - ranking = 1.7947418045143keywords = mucosa (Clic here for more details about this article) |
6/47. 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 = 3.2351746831898keywords = membrane (Clic here for more details about this article) |
7/47. prenatal diagnosis of dominant dystrophic epidermolysis bullosa, by COL7A1 molecular analysis.We report the first direct molecular prenatal diagnosis, undertaken for the autosomal dominant form of dystrophic epidermolysis bullosa (DDEB). The proband had a moderately severe form of DDEB, with episodic blistering of skin and mucosal involvement. Diagnostic histopathological examination, using electron microscopy to evaluate skin from a fresh blister, demonstrated a zone of cleavage beneath the epidermal-dermal junction, thereby assigning the EB as dystrophic. dna analysis of COL7A1, the gene encoding type VII collagen, identified a heterozygous transversion (G to A) in the triple helix domain (G2043R). For any subsequent pregnancy, the affected mother and the unaffected father of the proband requested prenatal prediction, which was thereafter carried out in dna extracted from a chorionic villus sample obtained at 11 weeks of gestation. Restriction enzyme analysis of COL7A1 exons 73 and 74 amplified by PCR, demonstrated the presence of the G2043R mutation, and the pregnancy was subsequently terminated. Molecular analysis of dna extracted from fetal tissues confirmed the prenatal prediction.- - - - - - - - - - ranking = 0.59824726817143keywords = mucosa (Clic here for more details about this article) |
8/47. 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 = 51.298674486248keywords = mucous membrane, membrane (Clic here for more details about this article) |
9/47. 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 = 0.53919578053163keywords = membrane (Clic here for more details about this article) |
10/47. 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 = 2.6959789026582keywords = membrane (Clic here for more details about this article) |
| | Next -> |