title: Angioma serpiginosum with oesophageal papillomatosis is an X-linked dominant condition that maps to Xp11.3-Xq12.
abstract: We report on a four-generation family with localized subepidermal telangiectasias following Blaschko's lines (angioma serpiginosum). The vascular streaks are present at birth and progress slowly thereafter. In several family members papillomatosis of the entire oesophagus was found to be part of the condition. Mild nail and hair dystrophy added to the resemblance of Goltz-Gorlin syndrome (focal dermal hypoplasia), suggesting that the present condition could be a mild variant. All affected family members are females, there is no increased miscarriage rate, and X-inactivation in affected females is highly skewed, compatible with X-linked dominant inheritance with very early in utero lethality in males. In the family, 11 informative meioses were available to study the segregation of X-chromosome markers. Significant linkage (LOD score 3.31) was found to a region flanked by markers DXS8026 and DXS106 (44-67 Mb from Xpter) that includes the centromere.
authors.affiliation: Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, Bergen, Norway.
authors.forename: Ellen O
authors.initials: EO
authors.lastname: Blinkenberg
authors.forename: Atle
authors.initials: A
authors.lastname: Brendehaug
authors.forename: Arne K
authors.initials: AK
authors.lastname: Sandvik
authors.forename: Oystein
authors.initials: O
authors.lastname: Vatne
authors.forename: Raoul C M
authors.initials: RC
authors.lastname: Hennekam
authors.forename: Gunnar
authors.initials: G
authors.lastname: Houge
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics* / Q000473:pathology; D002503:Centromere / Q000235:genetics; D002874:Chromosome Mapping; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D041321:Chromosomes, Human, X / Q000235:genetics*; D004938:Esophageal Neoplasms / Q000235:genetics*; D005260:Female; D005489:Focal Dermal Hypoplasia / Q000235:genetics / Q000473:pathology; D005799:Genes, Dominant; D008040:Genetic Linkage; D005819:Genetic Markers; D006391:Hemangioma / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008297:Male; D009664:Norway; D010212:Papilloma / Q000235:genetics*; D010375:Pedigree
chemical_list: D005819:Genetic Markers