1/18. Diagnosis and prenatal diagnosis of epidermolysis bullosa herpetiformis (Dowling-Meara) in a mother, two affected children, and an affected fetus.In utero skin biopsy was performed on a fetus at risk of an uncertain form of epidermolysis bullosa (EB). The mother had produced two affected offspring diagnosed variously as having junctional or dystrophic EB. The two offspring and the fetus were products of different fathers. The mother claimed to have no disease and on clinical examination was without blisters. Examination of the fetal skin biopsy by light and electron microscopy revealed separation of the epidermal sheet from the majority of the biopsy sample, although occasional remnants of basal cells remained associated with the basement membrane. Aggregations of keratin filaments were observed within basal cells of the detached epidermis and in the attached basal cell remnants. The diagnosis was thus suggested to be epidermolysis bullosa Dowling-Meara. Re-review of the clinical and laboratory data from the affected infants revealed a clinical and histological pattern consistent with this diagnosis. Further discussion with the mother revealed that her skin had blistered as a child and that she presently had hyperkeratotic palms and soles. This history is consistent with the autosomal dominantly inherited epidermolysis bullosa herpetiformis (Dowling-Meara). This is the first reported prenatal diagnosis of EB Dowling-Meara. The morphological criteria of intraepidermal blistering and clumped keratin filaments within basal and immediately suprabasal cells characteristic of an affected individual postnatally also identified an affected fetus. There is, however, insufficient experience to be certain that these findings will hold from region to region in the body or among all affected fetuses, and thus prenatal diagnosis on a morphological basis should still be made with caution.- - - - - - - - - - ranking = 1keywords = dermis (Clic here for more details about this article) |
2/18. Characteristic immunohistochemical and ultrastructural findings indicate that Kindler's syndrome is an apoptotic skin disorder.BACKGROUND: Kindler's syndrome is a rare genodermatosis mainly characterized by the onset of skin blistering in early childhood, web formation of fingers and toes, photosensitivity, and progressive poikiloderma. There is still debate whether this disease represents a distinctive entity in the spectrum of congenital bullous poikilodermas or a variant of dystrophic epidermolysis bullosa. OBJECTIVE: To evaluate the recently proposed and debated characteristic immunohistochemical and ultrastructural features of Kindler's syndrome. PATIENT/methods: Immunofluorescence (IF) antigen mapping and transmission electron microscopy (TEM) were performed on a skin specimen from non-sun-exposed inner aspect of the upper arm of a 49-year-old patient with characteristic clinical features of Kindler's syndrome. RESULTS: IF studies revealed focally an extensively broadened, partly reticular staining pattern in the dermoepidermal basement membrane zone (BMZ) with antibodies against laminin-5 and type IV as well as type VII collagen. Anti-alpha6 and beta4 integrin staining revealed small gaps in the linear reactivity in the BMZ. Abundant keratin bodies, as detected by anti-immunoglobulin m (IgM) staining, were focally present in the dermis, indicating prominent epidermal apoptosis. This was verified by a histochemical apoptosis stain [terminal deoxynucleotidyl transferase-mediated dUTP nick-end labeling (TUNEL) reaction]. Transmission electron microscopic examination showed manifold reduplications of the lamina densa (with attached anchoring fibrils) as well as a keratin body surrounded by a fibroblast in the upper dermis. CONCLUSION: We present characteristic immunohistochemical and ultrastructural features of Kindler's syndrome identical to those described by Shimizu et al. and provide evidence that Kindler's syndrome might primarily be an apoptotic disorder of basal keratinocytes.- - - - - - - - - - ranking = 2keywords = dermis (Clic here for more details about this article) |
3/18. Intra-epidermal retention of type VII collagen in a patient with recessive dystrophic epidermolysis bullosa.An infant born with severe blisters on the limbs, face, trunk, and oral mucosa was diagnosed by light and electron microscopy to have recessive dystrophic epidermolysis bullosa. Transmission electron microscopy showed that the basal lamina remained with the epidermis and that the floor of the blister was exposed collagen of the papillary dermis. No banded anchoring fibrils were observed along either the roof or the floor of the blister; however, small filamentous structures, possibly immature anchoring fibrils, extended down from the lamina densa along the blister roof. Some basal and suprabasal keratinocytes contained large vesicles filled with filamentous matrix of variable electron density. Immunofluorescent staining of skin for type VII collagen showed sparse and irregular staining of type VII collagen along the blister roof, and intense intracellular labeling for type VII collagen in clusters of epidermal cells in basal and suprabasal layers. Type VII collagen appeared to be synthesized by keratinocytes but not secreted.- - - - - - - - - - ranking = 2keywords = dermis (Clic here for more details about this article) |
4/18. epidermolysis bullosa simplex superficialis. A new variant of epidermolysis bullosa characterized by subcorneal skin cleavage mimicking peeling skin syndrome.We report a new variant of epidermolysis bullosa simplex (EBS), termed EBS superficialis, which is characterized by the development of skin cleavage just beneath the level of stratum corneum. In two of seven patients identified, a second and more focal cleft within the lower third of the epidermis was also detected. epidermolysis bullosa simplex superficialis appears to be transmitted as an autosomal dominant trait. It differs from other autosomal dominant forms of EBS by the common findings of milia and atrophic scarring, as well as involvement of oral and/or ocular surfaces. epidermolysis bullosa simplex superficialis is further differentiated from peeling skin syndrome by the presence of blisters and the absence of spontaneous continual exfoliation or peeling.- - - - - - - - - - ranking = 1keywords = dermis (Clic here for more details about this article) |
5/18. epidermolysis bullosa acquisita. Direct immunofluorescence and ultrastructural studies.A case of epidermolysis bullosa acquisita (EBA), associated with inflammatory bowel disease in which cicatricial alopecia was present, was studied by electron microscopy and direct immunofluorescence microscopy. Direct immunofluorescence studies were performed on both clinically normal and perilesional skin, with and without previous separation of the epidermis from the dermis by incubation with 1 M sodium chloride. We propose the use of this separation technique to identify the level of antibody deposition in patients with EBA in whom circulating antibodies are lacking. This technique may be particularly beneficial in delineating between EBA and the clinically similar scarring localized forms of bullous pemphigoid in which circulating antibodies are often absent.- - - - - - - - - - ranking = 2keywords = dermis (Clic here for more details about this article) |
6/18. Disseminated cicatricial pemphigoid in a child and in an adult. Ultrastructural diagnostic criteria and differential diagnosis with special reference to acquired epidermolysis bullosa.The first case of an infant affected with a rare, disseminated variant of benign cicatricial pemphigoid is described, showing the same ultrastructural features of initial blister formation as an adult patient. These consist in edematous changes within the superficial dermis caused by vesiculation or dissolution of cellular and noncellular connective tissue elements, coalescing into subepidermal blisters. Differential diagnosis excludes other nonhereditary bullous disorders because of the ultrastructure of the dermo-epidermal junction in nascent blisters and in perilesional skin. In spite of evident clinical, histological, and immunohistological similarities as well as controversial and confusing immunological studies, acquired epidermolysis bullosa can be clearly separated from our case by a diagnostic hallmark on the electron-microscopical level, i.e., band-like IgG depositions beneath the basal lamina. This is demonstrated in comparing the two cases of disseminated cicatricial pemphigoid with three patients suffering from acquired epidermolysis bullosa, thus providing evidence that disseminated cicatricial pemphigoid and acquired epidermolysis bullosa are two distinct nosologic entities.- - - - - - - - - - ranking = 1keywords = dermis (Clic here for more details about this article) |
7/18. Surgical correction of the hand in epidermolysis bullosa dystrophica.epidermolysis bullosa dystrophica (polydysplastic type) is a rare congenital skin anomaly which, in the hands, because they are exposed to repeated trauma, results in a severe "mitten"-like deformity. Functional benefit was obtained in three patients by separation of the digits and application of split-thickness grafts. Wolfe grafts or "split-off" (epidermis) grafts. arthrodesis of the interphalangeal joints and filleting of the little finger to provide a flap which could be turned in to the palm, resulted in an improvement in hand function.- - - - - - - - - - ranking = 1keywords = dermis (Clic here for more details about this article) |
8/18. Transient bullous dermolysis of the newborn.A black male newborn delivered by cesarean section developed large bullae on his extremities and in other friction areas soon after birth. No significant family history was obtained. The bullae healed rapidly, leaving hypopigmentation but no scars or milia. Occasional new lesions continued to appear for four months but not after. Reexamination 12 months later showed a normal healthy infant with only residual hypopigmentation in some of the previously involved areas. Histologic and electron microscopic examinations revealed a subepidermal bulla that was ultrastructurally a subbasal lamina separation. Collagenolysis and damage to the anchoring fibrils were found to be responsible for this separation. Perifollicular collagen sheath was also damaged, but periductal collagen of eccrine duct was intact. keratinocytes in the lower epidermis showed large, dilated rough endoplasmic reticulum (RER), which contained electron-dense stellate bodies. The contents of these RER vacuoles were discharged into the papillary dermis through the rupture of the basal lamina. The number and size of RER vacuoles in the lower epidermis correlated with the severity of collagenolysis in the underlying papillary dermis. The outer root sheath keratinocyte in the upper hair follicle contained RER vacuoles, but the eccrine duct keratinocyte did not. We suspected that the RER vacuoles contained proteolytic enzymes, which were responsible for the collagenolysis.- - - - - - - - - - ranking = 4keywords = dermis (Clic here for more details about this article) |
9/18. Aplasia cutis congenita in two sibs discordant for pyloric atresia.We report two sibs who were the products of a consanguineous mating, and who had an extensive form of aplasia cutis congenita (ACC). In one of them the generalized skin disorder was manifested by slipping off of the epidermis and mucous membranes with the slightest trauma. This sib also had pyloric atresia and other congenital malformations. Two hypotheses are presented to explain the discordance between the siblings for the abnormalities other than the ACC. One hypothesis assumes varying degrees of severity of the same autosomal recessive disease. The second suggests linkage between the gene for ACC and the gene for an epidermolysis bullosa (EB)-like disorder and pyloric atresia. a recombination event involving the EB-pyloric atresia gene in one carrier parent would then lead to an offspring with only ACC. prenatal diagnosis is suggested by monitoring alpha-fetoprotein levels in aminotic fluid.- - - - - - - - - - ranking = 1keywords = dermis (Clic here for more details about this article) |
10/18. Monoclonal IgM kappa antibody precipitating with chondroitin sulfate C from patients with axonal polyneuropathy and epidermolysis.We studied two patients with an axonal type of polyneuropathy, epidermolysis, and IgM kappa plasma cell dyscrasia. The IgM kappa was deposited in the dermis, was absorbed from the serum by axonal micelle preparations, and was precipitated with chondroitin sulfate in highly purified agarose in 0.15 M NaCl with 0.01 M phosphate buffer, pH 7.8. In contrast, we found none of these abnormalities in three patients with IgM plasma cell dyscrasia and demyelinating neuropathy. Of 78 other macroglobulinemic serum samples from patients without neuropathy, 7 precipitated with a sulfated polysaccharide. This reaction occurred at low ionic strength, 0.05 M barbital buffer, pH 8.1, but did not occur in the higher ionic strength of 0.01 M phosphate with 0.15 M NaCl (PBS). The interaction of the IgM with chondroitin sulfate at relatively high ionic strength could cause both the axonal polyneuropathy and the epidermolysis.- - - - - - - - - - ranking = 1keywords = dermis (Clic here for more details about this article) |
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