THE CLARKE-HOWEL-EVANS-MCCONNELL-SYNDROME - OBSERVATIONS IN A MUST BEGERMAN FAMILY OVER 5 GENERATIONS

The Clarke-Howel-Evans-McConnell-Syndrome is a rare hereditary disease characterized by palmoplantar keratoses,squamous cell carcinoma of th e esophagus and oral leukoplakia. According to a new classification re cently proposed by Stevens and colleagues, the syndrome can also be cl assified as Palmoplantar Ectodermal Dysplasia Type III. We report a fa mily from the Black Forest region of Germany afflicted with the syndro me. The family was traced through five generation. 27 of 46 family mem bers showed tylotic skin changes. In addition, 8 patients showed oral leukoplakia and 5 died from squamous cell carcinoma of the esophagus. Using screening examinations, early changes of the esophageal mucosa c ould be detected. The responsible gene has been mapped in the family. II 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 excl uded as a cause of the syndrome.