1/61. Dystrophic epidermolysis bullosa associated with eosinophilic infiltrate and elevated serum IgE.An infiltrate of eosinophils is rarely seen in epidermolysis bullosa. We describe a child with dystrophic epidermolysis bullosa associated with a marked eosinophilic tissue infiltrate and elevated serum IgE.- - - - - - - - - - ranking = 1keywords = epidermolysis bullosa, epidermolysis, bullosa (Clic here for more details about this article) |
2/61. 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 = 0.66666666666667keywords = epidermolysis bullosa, epidermolysis, bullosa (Clic here for more details about this article) |
3/61. 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 = 0.66666666666667keywords = epidermolysis bullosa, epidermolysis, bullosa (Clic here for more details about this article) |
4/61. 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.- - - - - - - - - - ranking = 1keywords = epidermolysis bullosa, epidermolysis, bullosa (Clic here for more details about this article) |
5/61. herpes simplex virus type 1 as a cause of widespread intracorneal blistering of the lower limbs.herpes simplex virus (HSV) infections often manifest as acute self-limiting eruptions of grouped vesicles, which have a tendency to recur. Common manifestations include that of gingivostomatitis, vulvovaginitis, recurrent erythema multiforme, herpetic whitlow, and eczema herpeticum. We report a case of HSV-1 presenting as a symmetrical intracorneal blistering eruption involving the lower limbs in a patient with no previous history of herpes simplex infection.- - - - - - - - - - ranking = 0.00014041307314583keywords = simplex (Clic here for more details about this article) |
6/61. Angina bullosa hemorrhagica: an unusual problem following periodontal therapy.Angina bullosa hemorrhagica (ABH) describes benign subepithelial oral blood blisters not attributable to a systemic disorder. Little is known about the pathogenesis of ABH, although most cases have been associated with mild trauma prior to appearance of the lesion. This report discusses the clinical and histopathologic features of ABH which appeared after routine scaling and root planing.- - - - - - - - - - ranking = 0.07958783127842keywords = bullosa (Clic here for more details about this article) |
7/61. mycosis fungoides bullosa: report of a case and review of the literature.mycosis fungoides, the most common type of cutaneous T-cell lymphoma, can manifest in a variety of clinical and histologic forms. Presentation with vesiculobullous lesions is extremely rare. We report the ninth documented case of mycosis fungoides bullosa in which other concomitant autoimmune blistering diseases were ruled out by negative immunofluorescence. All previously reported cases in the world literature since the first in 1887 are reviewed. We recommend the following defining criteria for the disease: (1) clinically apparent vesiculobullous lesions, with or without typical mycosis fungoides lesions (patches, plaques, tumors); (2) typical histologic features of mycosis fungoides (atypical lyphoid cells, epidermotropism, Pautrier's microabscesses) with intraepidermal or subepidermal blisters; (3) negative immunofluorescence (both direct and indirect, if possible) to rule out concomitant autoimmune bullous diseases; (4) negative evaluation for other possible causes of vesiculobullous lesions (eg, medications, bacterial or viral infection, porphyria, phototherapy).- - - - - - - - - - ranking = 0.07958783127842keywords = bullosa (Clic here for more details about this article) |
8/61. Ongoing blistering in a boy with congenital erosive and vesicular dermatosis healing with reticulated supple scarring.Congenital erosive and vesicular dermatosis healing with reticulated supple scarring is a rare entity presenting in the newborn with crusted erosions and vesicles that heal relatively rapidly, forming unique reticulated scars. A 9-year-old boy presented with a diagnosis of junctional epidermolysis bullosa, but displayed this characteristic scarring pattern and very mild ongoing blistering. In addition, he had severe chronic conjunctivitis due to cicatricial alopecia of the eyelashes and lacrimal duct obstruction. He had no evidence of enamel defects or other features of junctional epidermolysis bullosa. Ultrastructural analysis of his skin biopsy specimens showed a normal dermoepidermal junction. This characteristic scarring disorder may be associated with mild ongoing blistering and must be distinguished from other congenital blistering disorders.- - - - - - - - - - ranking = 0.33333333333333keywords = epidermolysis bullosa, epidermolysis, bullosa (Clic here for more details about this article) |
9/61. esophageal stenosis in childhood: dystrophic epidermolysis bullosa without skin blistering due to collagen VII mutations.We report a 9-year-old girl who experienced recurrent dysphagia since infancy. Crohn's disease was suspected because she had aphthous ulcers of the mouth and anal dermatitis with hematochezia. After bougienages of esophageal stenoses and medication for inflammatory bowel disease proved unsuccessful, interdisciplinary re-examination revealed the cause of the symptoms to be an extracutaneous form of dystrophic epidermolysis bullosa, a genetic skin fragility disorder. Dystrophic epidermolysis bullosa is caused by mutations in the COL7A1 gene encoding collagen VII, a protein of the epidermal attachment complex, and typically manifests with trauma-induced skin blistering, scarring, nail dystrophy, and, in some cases, mucosal involvement. The present proband never developed skin blisters but had nail dystrophy and erosions of the oral, esophageal, and genitoanal mucosa, which healed with slight scarring. mutation analysis disclosed compound heterozygosity for recessive mutations in the COL7A1 gene. The paternal mutation 425 A-->G caused abnormal splicing resulting in a premature stop codon. The maternal mutation G2775S led to the substitution of a glycine by a serine in the triple helical domain of collagen VII. This case shows that mucosal disease and esophageal strictures in childhood are not always acquired, but can also represent a genetic defect of dermal-epidermal adhesion, even in the absence of skin blistering.- - - - - - - - - - ranking = 1keywords = epidermolysis bullosa, epidermolysis, bullosa (Clic here for more details about this article) |
10/61. Coexistent infections on a child's distal phalanx: blistering dactylitis and herpetic whitlow.We report a case of coexistent staphylococcus aureus and herpes simplex virus (HSV) infections responsible for a bullous and vesicular eruption on a child's distal phalanx. Blistering distal dactylitis (BDD), a superficial infection of the distal portion of the finger, is seen most commonly in children and is caused by either beta-hemolytic streptococci or S aureus. Herpetic whitlow, also a blistering infection found on children's distal fingers, is a bacteriologic sterile infection caused by HSV-1 or HSV-2. In this report, we note that these infections may coexist on the distal phalanx. This case has implications for diagnosis and treatment of children's blistering hand diseases.- - - - - - - - - - ranking = 2.3402178857639E-5keywords = simplex (Clic here for more details about this article) |
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