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1/129. Kindler syndrome: absence of definite ultrastructural feature.

    Kindler syndrome is characterized by congenital blister formation, photosensitivity, poikiloderma, and cutaneous atrophy in later life. There are few reports about the ultrastructural features of this syndrome, but still there is no consensus about the basic disease. Here we report a case of Kindler syndrome with ultrastructural findings. ( info)

2/129. 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. ( info)

3/129. 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. ( info)

4/129. 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. ( info)

5/129. Surgical management of hands in children with recessive dystrophic epidermolysis bullosa: use of allogeneic composite cultured skin grafts.

    Recessive dystrophic epidermolysis bullosa (RDEB) is characterised by progressive childhood hand syndactyly and flexion contractures, which can be managed surgically but require split thickness autografts to facilitate satisfactory postoperative healing. We report on the partial substitution, for autografts, of improved composite cultured skin (CCS) allografts. The structure and preparation of these CCSs is outlined and their application in the course of 16 operations performed on 7 RDEB children with syndactyly and flexor contractures of fingers is described. hand contractures were released and web spaces were covered with local flaps and split thickness autografts, while adjacent sides of the digits and other areas, as well as donor sites were generally grafted with CCS. Morphologic and functional results with CCS were judged to be good to excellent, the average time to recurrence was increased approximately 2-fold and smaller autografts needed to be used. In addition, healed CCS-treated donor sites could provide superior donor sites for further surgery. ( info)

6/129. Diagnostic dilemma of "sporadic" cases of dystrophic epidermolysis bullosa: a new dominant or mitis recessive mutation?

    Dystrophic forms of epidermolysis bullosa (DEB), characterized by mutations in the type VII collagen gene (COL7A1), are inherited either in an autosomal dominant or autosomal recessive fashion, and sporadic, de novo cases have also been reported. Clinically, the dominant forms (DDEB) can be indistinguishable from the mild, mitis forms of recessively inherited DEB (M-RDEB). This situation poses a dilemma in case of families with 1 mildly affected individual and clinically normal parents: Is it a new dominant or mitis recessive DEB? In this study we review 2 cases with mild DEB, the parents being clinically normal. One of the cases was shown to be a compound heterozygote for 2 silent missense mutations (R2063W/G2366S), thus being diagnosed as M-RDEB. The second case had a single glycine substitution mutation (G2079E) in COL7A1 and had therefore DDEB. These findings have implications for the genetic counseling of these families concerning the risk of recurrence of the disease in subsequent pregnancies in the present and future generations. ( info)

7/129. Identification of a de novo glycine substitution in the type VII collagen gene in a proband with mild dystrophic epidermolysis bullosa.

    The dystrophic forms of epidermolysis bullosa result from different types and combinations of mutations in the type VII collagen gene (COL7A1). We describe a novel glycine substitution arising as a de novo mutation in a proband with a clinically mild form of dystrophic epidermolysis bullosa and no family history of any blistering disease. This report underscores the predominance of glycine substitutions in the dominantly inherited forms of dystrophic form epidermolysis bullosa, and heightens our awareness of unusual modes of inheritance. This information is critical for accurate genetic counseling and determination of recurrence risk in families with dystrophic EB. ( info)

8/129. Squamous cell carcinoma in a family with dominant dystrophic epidermolysis bullosa: a molecular genetic study.

    Squamous cell carcinoma in a family with dominant dystrophic epidermolysis bullosa: a molecular genetic study Squamous cell carcinoma (SCC) is a frequent complication in the severe, recessively inherited forms of dystrophic epidermolysis bullosa (RDEB), however, only rarely reported in dominant DEB. Although the SCCs in RDEB are frequently well-differentiated by histopathology, they often have a poor prognosis due to multicentricity, rapid invasiveness, and development of distant metastases. In this study, we sought to determine the molecular basis of DDEB in a family with the unusual occurrence of SCCs. Specifically, a large DDEB family with 2 individuals being affected with SCC was analyzed for potential mutations in the type VII collagen gene (COL7A1) by heteroduplex scanning and direct nucleotide sequencing of PCR amplified segments of the gene. This mutation detection strategy disclosed a G-->A transition at nucleotide position 6,235 which resulted in substitution of a glycine by arginine within the collagenous region of COL7A1. This study establishes, for the first time, the molecular basis in a family with DDEB/SCC. Clinically, this study reemphasizes the importance of vigilance in surveying DEB patients, not only those with recessive but also with dominant inheritance, for SCC. ( info)

9/129. Dominant dystrophic epidermolysis bullosa (Pasini) caused by a novel glycine substitution mutation in the type VII collagen gene (COL7A1).

    A 12 y old girl with the albopapuloid variant (Pasini) of dominant dystrophic epidermolysis bullosa is studied. The albopapuloid lesions developed within the first year of life, contained milia and were associated with pruritus. Mutation detection of the COL7A1 gene revealed a G-->A transition at nucleotide position 6110 in the mutant allele converting a glycine to glutamic acid (G2037E). This report adds to the expanding database on COL7A1 mutations in dystrophic epidermolysis bullosa. ( info)

10/129. Allelic heterogeneity of dominant and recessive COL7A1 mutations underlying epidermolysis bullosa pruriginosa.

    The inherited mechanobullous disease, dystrophic epidermolysis bullosa, is caused by type VII collagen gene (COL7A1) mutations. We studied six unrelated patients with a distinct clinical subtype of this disease, epidermolysis bullosa pruriginosa, characterized by pruritus, excoriated prurigo nodules, and skin fragility. Mutation analysis using polymerase chain reaction amplification of genomic dna, heteroduplex analysis and direct nucleotide sequencing demonstrated pathogenetic COL7A1 mutations in each case. Four patients had a glycine substitution mutation on one COL7A1 allele (G1791E, G2242R, G2369S, and G2713R), a fifth was a compound heterozygote for a splice site mutation (5532 1G-to-A) and a single base pair deletion (7786delG), and a sixth patient was heterozygous for an out-of-frame deletion mutation (6863del16). This study shows that the molecular pathology in patients with the distinctive clinical features of epidermolysis bullosa pruriginosa is heterogeneous and suggests that other factors, in addition to the inherent COL7A1 mutation(s), may be responsible for an epidermolysis bullosa pruriginosa phenotype. ( info)
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