Hereditary phlebectasis of the lips. An autosomal dominant disorder.
A new hereditary syndrome is described in three, perhaps four generations, with a male-to-male transmission that denotes an autosomal dominant inheritance. Usually after the age of 40, there is a swelling of the lower lip by varicosities, a phenomenon usually seen in older individuals. Ten individuals have had this disorder. They do not seem to have any of the hereditary disorders that cause vascular changes in the lips, although the autosomal dominant disorder, Rendu-Osler-Weber syndrome most resembles this disease.
D000368:Aged; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008046:Lip / Q000098:blood supply*; D008297:Male; D009061:Mouth Mucosa / Q000098:blood supply; D010375:Pedigree; D014648:Varicose Veins / Q000235:genetics* / Q000473:pathology