RESUMEN
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.
Asunto(s)
Anomalías Múltiples/genética , Cromosomas Humanos Par 11/genética , Cromosomas Humanos X/genética , Neoplasias Esofágicas/genética , Hemangioma/genética , Papiloma/genética , Anomalías Múltiples/patología , Centrómero/genética , Mapeo Cromosómico , Femenino , Hipoplasia Dérmica Focal/genética , Hipoplasia Dérmica Focal/patología , Genes Dominantes , Ligamiento Genético , Marcadores Genéticos , Hemangioma/patología , Humanos , Masculino , Noruega , LinajeRESUMEN
We have investigated the clinical usefulness of the activated protein C resistance (APCR)/factor V Leiden mutation (FVL) test by sending out questionnaires to all Norwegian physicians who ordered these tests from our publicly funded service laboratory during a 3-month period, and of whom 70% (267/383) responded. Indications for testing, patient follow-up, the use of APCR versus FVL tests and differences in practice between hospital doctors and GPs were examined. We found that 46% of the tests were predictive, ordered for risk assessment in healthy individuals with no previous history of venous thromboembolism (VTE). Among these, 42% of the tests were taken on the initiative of the patient and 24% were screening tests before prescription of oral contraceptives. In total, 54% of the tests were classified as diagnostic, among which 42% were ordered owing to a previous history of VTE and 22% to a history of brain stroke or myocardial infarction. The prevalence of FVL heterozygotes was not significantly different between the predictive and diagnostic test groups, that is, 26 and 20%, respectively. Only the predictive tests influenced patient follow-up. Here, the physician's advice to patients depended on the test result. In general, the clinical usefulness of APCR/FVL testing was low. Many tests were performed on unsubstantiated or vague indications. Furthermore, normal test results led to unwarranted refrain from giving advice about antithrombotic measures, leading to potential harm to the patient.