Cases reported "Skin Abnormalities"

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1/13. Junctional epidermolysis bullosa associated with congenital localized absence of skin, and pyloric atresia in two newborn siblings.

    Congenital localized absence of the skin has been observed in various subsets of inherited epidermolysis bullosa (EB). Pyloric atresia is a rare disorder that has been seen in association with EB. Ureterovesical junction obstruction is a condition unique to the association between pyloric atresia and EB. The authors describe 2 premature male siblings with pyloric atresia, congenital localized absence of the skin, urinary obstruction, and EB at birth. Electron microscopic study of the biopsy specimen from the first sibling revealed characteristic findings of EB simplex. However, prenatal diagnosis of the next sibling was made by integrin B4 mutations and the electron microscopic study of the biopsy specimen after delivery confirmed junctional EB (JEB). These cases emphasize this unusual combination of defects and limitations of electron microscopy.
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ranking = 1
keywords = epidermolysis bullosa, epidermolysis, bullosa
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2/13. 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 = 1.6
keywords = epidermolysis bullosa, epidermolysis, bullosa
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3/13. Bart syndrome with associated anomalies.

    Bart syndrome is an inherited condition characterized by epidermolysis bullosa and congenital absence of skin. It has been associated with other anomalies including pyloric atresia. The genetic abnormality has been linked to chromosome 3, with an autosomal dominant pattern of inheritance. We present a case of Bart syndrome that was associated with pyloric atresia. The literature is reviewed pertaining to this unusual association. Recommendations are offered regarding genetic counseling and anticipatory guidance for affected families.
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ranking = 0.2
keywords = epidermolysis bullosa, epidermolysis, bullosa
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4/13. Epidermolysis bullosa and aplasia cutis.

    Recessive dystrophic epidermolysis bullosa with aplasia cutis occurring in a male infant is described. The association of these two rare conditions is reviewed. Reports of the concurrence of large areas of congenital absence of skin, particularly on the lower limbs, in patients with several different types of epidermolysis bullosa suggest that areas of congenital absence of skin in these patients are an initial manifestation of the bullous disease rather than a distinctive entity.
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ranking = 0.4458945974831
keywords = epidermolysis bullosa, epidermolysis, bullosa
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5/13. Aplasia cutis congenita. A case report and annotation.

    Aplasia cutis congenita (ACC) including epidermolysis bullosa (EB) are rare congenital conditions. In ACC there is a localised absence of skin while in EB blistering occurs with a split at the epidermal or dermal level. In the past these 2 conditions have been reported to occur in the same patient. A case of a Gurkha baby girl illustrating just such an entity with severe erosive defects over the head, face, trunk and acral parts of the limbs presenting at birth is reported. There was also widespread blistering over the chest, abdomen and back. The baby died after 3 days from serious complications.
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ranking = 0.2
keywords = epidermolysis bullosa, epidermolysis, bullosa
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6/13. Aplasia cutis congenita: a report of 12 new families and review of the literature.

    Aplasia cutis congenita (ACC) is a heterogeneous group of disorders whose common characteristic is focal absence of skin. In the majority of instances this is limited to the scalp, although other areas of the body may also be involved. Other congenital malformations have been reported to occur with ACC; limb defects appear to be a specific association. Given our experience with ACC, we suggest a classification based on genetically distinct entities. Type I ACC is limited to the scalp. Type II involves body or scalp; IIA involves body or limb defects. Type III is limited to the scalp or limbs. Type IV is associated with epidermolysis bullosa; type IVA is Bart syndrome. Although most reported cases have been sporadic, there are many familial occurrences of all types of ACC. Most published pedigrees are consistent with autosomal dominant inheritance with reduced penetrance, or autosomal recessive inheritance. Careful examination of family members of affected individuals is warranted.
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ranking = 0.2
keywords = epidermolysis bullosa, epidermolysis, bullosa
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7/13. Severe congenital skin defects in a newborn. Case report and relevance of several obstetrical parameters.

    The clinical, laboratory, histologic and autopsy findings are reported from a live-born male infant with severe congenital skin defects (CSD) who survived for 2 days. The family history revealed consanguinity of the (Turkish) parents. The patient was compared with 10 cases from the literature with the most severe form of CSD. The combination of severe CSD, parental consanguinity and gastrointestinal atresia was found in 3 of these 11 cases, including our own patient. Differentiation from an atypical form of epidermolysis bullosa, complicated by pyloric atresia, is difficult. The mechanism of the (prenatally detected) elevated amniotic fluid alpha 1-fetoprotein (AFP) level is discussed. The finding of a balanced 13q14q chromosome translocation in the infant and his mother is considered a coincidence.
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ranking = 0.2
keywords = epidermolysis bullosa, epidermolysis, bullosa
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8/13. 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.
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ranking = 0.2
keywords = epidermolysis bullosa, epidermolysis, bullosa
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9/13. Dystrophic epidermolysis bullosa presenting with congenital localized absence of skin: report of four cases.

    Four cases of epidermolysis bullosa presenting with congenital absence of skin are described. These cases were shown to be dystrophic epidermolysis bullosa on clinical and ultrastructural findings. They demonstrate that congenital localized absence of skin (Bart's syndrome) may be the presenting sign of epidermolysis bullosa.
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ranking = 1.4
keywords = epidermolysis bullosa, epidermolysis, bullosa
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10/13. Epidermolysis bullosa in association with aplasia cutis congenita and pyloric atresia.

    A female infant born to a mother who had an elevated serum alpha-fetoprotein during early pregnancy, presented a combination of epidermolysis bullosa and aplasia cutis congenita. She developed evidence of upper gastrointestinal obstruction and died at the age of 43 hours. Post-mortem examination showed the presence of pyloric atresia and electron microscopy of skin biopsies showed epidermolysis bullosa simplex. Examination of the placenta revealed a unique abnormality of the membranes, indicating the existence of two sacs. This case and the previously reported cases, which are reviewed, suggest an autosomal recessive inheritance. serum alphafetoprotein estimation, ultrasonography and fetoscopy with skin biopsy are suggested as a means of pre-natal diagnosis in future pregnancies.
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ranking = 0.4458945974831
keywords = epidermolysis bullosa, epidermolysis, bullosa
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