Cases reported "Epidermolysis Bullosa"

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1/62. Abnormal deposition of type VII collagen in Kindler syndrome.

    Kindler syndrome is an extremely rare genetic disorder with features of epidermolysis bullosa and poikiloderma congenitale. Approximately 70 cases have been documented in the past 50 years, but only a few investigations of the basement membrane components have been done on these patients. The aim of this study was to examine the components of the basement membrane zone in search of the pathobiological defect(s) responsible for the clinical findings from a female 16-year-old patient diagnosed with Kindler syndrome. This patient also suffered from advanced early-onset periodontal disease. Biopsies were taken from inflamed gingiva and noninflamed oral mucosa as part of periodontal treatment. The basement membrane zone was examined using immunofluorescence microscopy to bullous pemphigoid antigens 1 and 2, collagen types IV and VII, laminins-1 and -5, and integrins alpha3beta1 and alpha6beta4. The biopsies studied revealed blistering with trauma above the level of lamina densa based on distribution of type IV collagen and laminin-1 at the blister floor. In the noninflamed mucosa, discontinuous areas of the basement membrane zone were found. Expression of the basement membrane zone components and the integrins studied appeared otherwise normal with the exception of type VII collagen which was found in abnormal locations deep in the connective tissue stroma. Our results suggest that Kindler syndrome is associated with abnormalities in the construction of the basement membrane, especially in the expression of type VII collagen. These alterations are likely to play a role as etiological factors leading to blister formation and early onset periodontal disease.
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ranking = 1
keywords = congenita, defect
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2/62. Pyloric atresia: five new cases, a new association, and a review of the literature with guidelines.

    BACKGROUND/PURPOSE: Pyloric atresia is an uncommon condition occurring in 1 of 100,000 live births. When occurring in isolation, the clinical course usually is uncomplicated after surgical treatment. However, it may occur in association with other congenital abnormalities. The authors present 5 new cases, 3 of associated abnormalities including 1 of esophageal atresia and 2 of agenesis of the gall bladder and malrotation. Agenesis of the gall bladder has not been described previously in combination with pyloric atresia. The literature has been reviewed and guidelines are suggested for the management. methods: The case records of 4 neonates who presented to the author's institution between January 1998 and June 1999 and 1 who presented at another center in 1991 were reviewed. A medline literature search was performed, and guidelines were developed for the management of this condition based on our cases and the literature review. RESULTS: patients 1 and 5 had no associated anomalies. Patient 2 had associated esophageal atresia, tracheoesophageal fistula, atrial septal defect, crossed renal ectopia, malrotation, and absent gall bladder. Patient 3 had a rectovestibular fistula, vaginal atresia, atrial septal defect, malrotation absent gallbladder, and absent extrahepatic portal vein. Patient 4 had epidermolysis bullosa. patients 2 and 5 had unremarkable recoveries, patients 2 and 3 had markedly delayed gastric emptying that responded to cisapride. Patient 3 has portal hypertension and remains under close follow-up. Patient 4 died at 22 days of age of pseudomonas sepsis. CONCLUSIONS: Based on our cases and literature review, we have adopted the following guidelines: (1) All children with pyloric atresia should be screened for multiple anomalies. (2) Delayed gastric emptying should be considered early and may respond to prokinetic agents. (3) association with Epidermolysis bullosa should not preclude surgical treatment. (4) A skin biopsy specimen should be taken at the time of surgery for electron microscopy if there is a family history of epidermolysis bullosa.
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ranking = 1.0055659047576
keywords = congenita, defect
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3/62. Marjolin's ulcer.

    In 1828 John Nicolas Marjolini characterized ulcer with malignant degeneration which developed in scars after burns, but it occurs under varying clinical conditions. Typical feature is the latent period (on average 30 years). It is encountered in 2 forms: a shallow ulcer or exophytic tumour, most frequently on the lower extremities. At the Prague Burn Centre 11 patients were treated since 1978 till 1998. A unique case was a man suffering from congenital form of epidermolysis bullosa who developed Marjolin's ulcer on his foot (histological examination confirmed well differentiated squamous cell carcinoma). After 4 years he died with extreme cachexia and metastatic spread of the tumour, because he refused repeatedly amputation and lymph nodes dissection. To prevent Marjolin's ulcer several recommendations are presented.
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ranking = 0.9944340952424
keywords = congenita
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4/62. Pyloric atresia: report of two cases (one associated with epidermolysis bullosa and one associated with multiple intestinal atresias).

    We describe the US findings in two vomiting newborns affected by different forms of pyloric atresia, a rare congenital anomaly that includes a spectrum of lesions limited to the antro-pyloric region of the stomach and with various inheritance mechanisms and syndromic associations.
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ranking = 0.9944340952424
keywords = congenita
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5/62. Epidermolysis bullosa hereditaria letalis: report of a case and probable ultrastructural defects.

    A case of epidermolysis bullosa hereditaria letalis (Herlitz) is described. In accordance with findings in other cases of Herlitz disease blister formation occurs in form of junctional separation. Electron microscopic study revealed scarcity and abnormal structure of hemidesmosomes, which may play an important role in the pathomorphogenesis of junctional blistering.
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ranking = 0.022263619030391
keywords = defect
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6/62. Aplasia cutis congenita associated with epidermolysis bullosa and pyloric atresia: the diagnostic role of prenatal ultrasonography.

    Aplasia cutis congenita associated with epidermolysis bullosa and pyloric atresia is a rare congenital disease in which localized or widespread areas of skin are absent at birth. Alphafetoprotein (AFP) and skin biopsy have been used for prenatal diagnosis of this condition. A patient in whom normal levels of amniotic AFP at 16 weeks' gestation presumably excluded the disease and who was at risk for aplasia cutis congenita associated with epidermolysis bullosa and pyloric atresia is described. However, 10 weeks later, ultrasonographic examination revealed hydramnios, a dilated stomach, a deformed external ear, and a contracted fisted hand. All signs were confirmed postnatally. The role of ultrasonography and the value of other diagnostic methods in this congenital disease are discussed.
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ranking = 649.66919456844
keywords = aplasia cutis congenita, cutis congenita, aplasia cutis, congenita, aplasia, cutis
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7/62. Use of skin substitutes in pediatric patients.

    There are various artificial skin substitutes available commercially. The authors have used Integra, cultured epithelium, and Apligraf in their clinic. In the present report, they present their experiences based on two case reports. The first patient was a 12-year-old boy with widespread skin defects and left axillary contracture due to epidermolysis bullosa (EB). Apligraf was used to cover the skin defects on the trunk and face and to manage ectropion and axillary contracture. The second patient was a 6-year-old boy who suffered neurocutaneous melanosis. Partial excision of a pigmented lesion on the back created a large defect. Integra application followed by repair with cultured autologous skin was accomplished, and the results were satisfactory. skin substitute products 1) are commercially immediately available; 2) are effective for management of contractures, chronic wounds, and chronic skin illnesses; 3) decrease or avoid the risk of donor area morbidity, which is more difficult to treat in children; 4) provide long-term coverage of the wound; and 5) can be used in conjunction with autologous tissue (e.g., Integra followed by cultured epithelium applications).
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ranking = 0.016697714272793
keywords = defect
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8/62. 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.
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ranking = 0.9944340952424
keywords = congenita
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9/62. Multicentric Castleman's disease associated with inherited epidermolysis bullosa.

    Multicentric Castleman's disease (MCD) is a rare disorder characterized by fever, polyclonal hypergammaglobulinemia, and generalized lymphadenopathy. It has three histological characteristics: a recognizable architecture, germinal center abnormalities, and plasmacytosis. Inherited epidermolysis bullosa (EB) is also a rare disorder caused by a genetic defect. We report a 43-year-old patient with dystrophic EB, non-Hallopeau-Siemens recessive type or dominant type, displaying clinicopathologic features of MCD. In addition, his serum interleukin-6, which is thought to be responsible for the clinical symptoms in MCD, was elevated.
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ranking = 0.0055659047575977
keywords = defect
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10/62. Congenital localized absence of the skin as a manifestation of epidermolysis bullosa.

    BACKGROUND--Congenital localized absence of the skin has been observed in various subsets of inherited epidermolysis bullosa. Through electron microscopy and immunomapping, we attempt to clarify the relationship of congenital localized absence of the skin lesions to epidermolysis bullosa. OBSERVATIONS--The case of a child with epidermolysis bullosa simplex and congenital localized absence of the skin is presented. Electron microscopy and immunomapping of the areas of congenital localized absence of the skin and sites of skin fragility suggest that these lesions are pathogenically identical. CONCLUSION--After reviewing the literature, we believe that the term Bart's syndrome should be used to identify patients with any type of epidermolysis bullosa who present with localized congenital absence of the skin on the extremities.
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ranking = 3.9777363809696
keywords = congenita
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