[The XXXX . Observations in one family over 5 generations].

@entity1 @entity8407 @entity5342 @entity957 @entity709 @entity74
The @entity5342 is a rare @entity74 characterized by @entity709 , @entity957 . According to a new classification recently proposed by Stevens and colleagues, the syndrome can also be classified as @entity709 . We report a family from the Black Forest region of Germany afflicted with the syndrome. The family was traced through five generation. 27 of 46 family members showed tylotic skin changes. In addition, 8 @entity1 showed @entity8407 and 5 died from @entity957 of the esophagus. Using screening examinations, early changes of the esophageal mucosa could be detected. The responsible gene has been mapped in the family. It is located at 17q23-qter, telomeric to the keratin II gene cluster. Therefore a defect in one of the well known keratin genes can be excluded as a cause of the syndrome.
