Palmoplantar Keratoderma in Association with Carcinoma of the Esophagus Maps to Chromosome 17q Distal to the Keratin Gene Cluster

Hans Christian Hennies, Manfred Hagedorn, André Reis

Research output: Contribution to journalArticle

37 Citations (Scopus)


Palmoplantar keratoderma is a group of hereditary disorders of keratinization involving hyperkeratosis of palms and soles. Two different forms of palmoplantar keratoderma have recently been shown to be caused by mutations in the body site-specific keratin 9 gene and in the keratin 1 gene, respectively. Now we have analyzed a large German family with autosomal dominantly inherited palmoplantar keratoderma in association with carcinoma of the esophagus. Linkage to both the type I keratin gene cluster on chromosome 17q and the type II keratin gene cluster on chromosome 12q could be excluded. In contrast, we mapped palmoplantar keratoderma in this family to chromosome 17q distal to the type I keratin genes. Two-point linkage data at D17S801 gave a lod score Z(max) 5.1 at θ 0.00. Therefore, palmoplantar keratoderma is shown to be heterogeneous clinically as well as genetically and may be caused by mutations in keratins as well as in nonkeratins.

Original languageEnglish
Pages (from-to)537-540
Number of pages4
Issue number2
Publication statusPublished - Sep 1995
Externally publishedYes


Cite this