title: Ectodermal dysplasia syndrome in siblings with true keloids, stenosis of the esophagus after operations for congenital achalasia and renovascular hypertension due to stenosis of renal artery.
abstract: Ectodermal dysplasia syndrome (EDS) is a rare hereditary disease, with symptoms brought about by dysplasia of ectodermal tissue (such as skin, teeth, nails, and hair). This report details the cases of two siblings (41 and 43 year old sisters) with autosomal recessive and hydrotic EDS complicated by esophageal achalasia, postoperative stenosis of esophagus, true keloids, renovascular hypertension, incomplete malrotation of the bowel, and demyelination of the brain.
authors.affiliation: Third Department of Internal Medicine, Kyushu University, Fukuoka.
authors.forename: N
authors.initials: N
authors.lastname: Shimohashi
authors.forename: M
authors.initials: M
authors.lastname: Furukawa
authors.forename: H
authors.initials: H
authors.lastname: Yamaguchi
authors.forename: T
authors.initials: T
authors.lastname: Hashimoto
authors.forename: F
authors.initials: F
authors.lastname: Umeda
authors.forename: H
authors.initials: H
authors.lastname: Nawata
mesh_terms: D000328:Adult; D004476:Ectodermal Dysplasia / Q000150:complications* / Q000235:genetics; D004931:Esophageal Achalasia / Q000150:complications* / Q000235:genetics / Q000601:surgery; D004940:Esophageal Stenosis / Q000150:complications* / Q000235:genetics; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D006978:Hypertension, Renovascular / Q000150:complications* / Q000235:genetics; D007627:Keloid / Q000150:complications* / Q000235:genetics; D010375:Pedigree; D011183:Postoperative Complications; D012078:Renal Artery Obstruction / Q000150:complications* / Q000235:genetics