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Epithelioma adenoides cysticum: genetic update

1976; Oxford University Press; Volume: 95; Issue: 3 Linguagem: Inglês

10.1111/j.1365-2133.1976.tb07008.x

1365-2133

David E. Anderson, James B. Howell,

Ear and Head Tumors

British Journal of DermatologyVolume 95, Issue 3 p. 225-232 Epithelioma adenoides cysticum: genetic update DAVID E. ANDERSON, Corresponding Author DAVID E. ANDERSON The University of Texas System Cancer Center, M.D. Anderson Hospital and Tumor Institute, Houston, Texas and Southwestern School of Medicine, The University of Texas Health Science Center, Dallas, Texas, U.S.A.Reprint requests to Dr David E.Anderson, Section of Medical Genetics, Department of Biology, The University of Texas System Cancer Center, M.D.Anderson Hospital & Tumor Institute, Houston, Texas 77030, U.S.A.Search for more papers by this authorJAMES B. HOWELL, JAMES B. HOWELL The University of Texas System Cancer Center, M.D. Anderson Hospital and Tumor Institute, Houston, Texas and Southwestern School of Medicine, The University of Texas Health Science Center, Dallas, Texas, U.S.A.Search for more papers by this author DAVID E. ANDERSON, Corresponding Author DAVID E. ANDERSON The University of Texas System Cancer Center, M.D. Anderson Hospital and Tumor Institute, Houston, Texas and Southwestern School of Medicine, The University of Texas Health Science Center, Dallas, Texas, U.S.A.Reprint requests to Dr David E.Anderson, Section of Medical Genetics, Department of Biology, The University of Texas System Cancer Center, M.D.Anderson Hospital & Tumor Institute, Houston, Texas 77030, U.S.A.Search for more papers by this authorJAMES B. HOWELL, JAMES B. HOWELL The University of Texas System Cancer Center, M.D. Anderson Hospital and Tumor Institute, Houston, Texas and Southwestern School of Medicine, The University of Texas Health Science Center, Dallas, Texas, U.S.A.Search for more papers by this author First published: September 1976 https://doi.org/10.1111/j.1365-2133.1976.tb07008.xCitations: 22AboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinked InRedditWechat SUMMARY Epithelioma adenoides cysticum (EAC) is a well-known genodermatosis which follows an autosomal dominant mode of inheritance. Questions still remain, however, concerning an apparent excess of females with EAC. An analysis of nineteen previously published pedigrees and one newly ascertained pedigree, which in the aggregate included over 175 cases of EAC, indicated no excess of affected females, but rather, a marked deficit of affected males. This deficiency was not the consequence of sex linkage or decreased viability, and was most evident in large pedigrees and sibships, sibships not including the probands, and late birth orders. In these situations, the penetrance of EAC in male gene carriers was only 50%, but was close to 100% in female gene carriers. Under maximum detection conditions, i.e. small pedigrees, small sibships, sibships containing the proband, and early birth orders, the penetrance in males increased to 85% and was again close to 100% in females. These findings suggested that the deficit of affected males was best explained by a combination of lessened expressivity and penetrance, effects which were magnified under situations of poor detection. A review of familial cases of EAC indicated no consistent associated anomalies such as those that characterize the naevoid basal cell carcinoma syndrome. Citing Literature Volume95, Issue3September 1976Pages 225-232 RelatedInformation