1/307. 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. ( info) |
2/307. 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) |
3/307. 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) |
4/307. Congenital poikiloderma with unusual hypopigmentation and acral blistering at birth. Congenital poikiloderma is an uncommon hereditary disorder. It has been reported in association with various syndrome. No case has previously been reported from this environment. We report a case of congenital poikiloderma in a two and a half year old female Nigerian associated with unusual generalised hypopigmentation and acral blisters at birth. The child subsequently developed macular hyperpigmentation on an erythematous background and atrophy of the skin. Although she had some features which were suggestive of rothmund-thomson syndrome (RTS), the presence of hypopigmentation at birth, along with acral blistering, was noted to be peculiar to this child. We, therefore, feel that this case presents a distinct variant of congenital poikiloderma that has not been described previously. ( info) |
5/307. 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) |
6/307. Severe subepidermal blistering disorder with features of bullous pemphigoid and herpes gestationis. Herpes gestationis (HG) and bullous pemphigoid (BP) are blistering disorders with similar features, including urticarial lesions that progress to blisters and immunodeposition of C3 in a linear pattern at the basement membrane zone. Among their differences, HG is distinguished by its association with pregnancy, the puerperium, or hormonal perturbation. We describe the immunopathologic findings and clinical course in a multiparous woman with a severe blistering eruption. The patient was not pregnant. Malignancy evaluation was negative, and hormonal testing was normal. Histologic examination demonstrated a subepidermal bulla with eosinophils. Direct immunofluorescence showed C3 in a strong linear band at the dermal-epidermal junction. Indirect immunofluorescence demonstrated circulating IgG and IgG3 antibodies to basement membrane zone (epidermal component on salt-split skin), and complement-fixing IgG. immunoprecipitation demonstrated antibodies to a 180-kd keratinocyte protein antigen. By clinical definition, this patient has BP. However, her disease presentation demonstrated features of both BP and HG. ( info) |
7/307. Vesicular carcinoma erysipelatodes. Carcinoma erysipelatodes, also known as inflammatory metastatic carcinoma, is a type of cutaneous metastatic disease. We describe a 64-year-old woman with metastatic breast carcinoma who presented with a blistering erythematous eruption resembling erysipelas with formation of vesicles and bullae. She was found to have carcinoma erysipelatodes with a formation of vesicles and bullae. ( info) |
8/307. Spontaneous regression of a bulla with the development of adenocarcinoma of the lung. Spontaneous regression of a bulla in the lung is rare. We describe a case of spontaneous regression associated with the development of adenocarcinoma of the lung in a 59-year-old male smoker. The bulla had begun to regress spontaneously at least six months before lung cancer was detected on a chest radiograph. He underwent left upper lobe lobectomy with mediastinal node dissection. The tumor arose within the bulla, extending along the bulla wall. He has been alive for more than eight years with no evidence of recurrence. This case suggests that spontaneous regression of a bulla should be recognized as one of the early radiographic signs of the development of lung cancer in patients with bullous lung disease. ( info) |
| transillumination with a high-intensity fiberoptic light source is an effective means of diagnosing pneumothoraces and localizing arteries and veins for blood sampling. It has been used for these purposes in neonatal intensive care units since the 1970s. Thermal burns were reported in association with the technique initially, but this complication now occurs infrequently because of numerous safety precautions. We present a case of thermal blisters induced by transillumination in a neonate. This entity is an important addition to the differential diagnosis of vesicobullous eruptions in the neonate. ( info) |
10/307. lung cancer associated with pulmonary bulla. case report and review of literature. A few reports have suggested the possible association between lung cancer and bullous disease. We report a surgical case of lung adenocarcinoma located in close proximity to pulmonary bullae. A 48-year-old nonsmoker, asymptomatic male was found to have a pulmonary tumor mass and giant bulla in the right lung. thoracotomy identified a tumor arising from a firm, scarred and contracted area close to the bulla wall. Based on this report and review of other cases in the literature, we emphasize the need for physicians to be aware of the potential development of lung cancer in patients with pulmonary bulla. copyright copyright 1999 S. Karger AG, Basel ( info) |