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- W2400563511 abstract "We report a case of ichthyosis of Siemens (IBS) and describe the clinical and histopathological criteria to distinguish this phenotype from bullous ichthyosiform erythroderma of Brocq. In the present case, electron microscopical examination did not reveal any tonofilament defects. The diagnosis of ichthyosis bullosa of Siemens was unequivocally established by molecular analysis demonstrating a mutation in the K2e gene. This keratin is expressed in the upper layers of the epidermis. In the present family, six individuals belonging to four successive generations were affected. Remarkably, all of them showed in addition, a syndactyly of the second and third toe whereas this anomaly was absent in family members with a healthy skin. If this finding should be more than a chance association, it may represent an example of genetic linkage." @default.
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- W2400563511 date "1996-01-01" @default.
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- W2400563511 title "Ichthyosis bullosa of Siemens : a distinct type of epidermolytic hyperkeratosis" @default.
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