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Ichthyosis follicularis with atrichia and photophobia (IFAP) syndrome in two unrelated female patients
No full textThe IFAP syndrome is characterized by the congenital onset of ichthyosis follicularis, absence of hair, and photophobia. A limited number of patients with the disorder have been described, and X-linked recessive inheritance has been proposed. Two unrelated female patients with a complete IFAP syndrome are reported. Both patients show a diffuse distribution of the disorder without linear arrangement. Because the suggested X-linked recessive pattern of inheritance is unlikely in these patients, a different way of transmission or, alternatively, genetic heterogeneity of the disorder has to be considered
The italian registry of hereditary epidermolysis bullosa
No full textAim. At present, in Italy no exhaustive epidemiological study exists on inherited epidermolysis bullosa (EB). The necessity to have an exact evaluation of Italian cases encouraged the setting up of the national Registry, in order to collect all notifiable cases of this disease, with important implications in clinical knowledge, the development of prenatal diagnosis instruments and the start of epidemiological genetic studies. Methods. A hospital registry has been prepared: initially, it collected the cases already known to study centers in the period 1985-1993; then, it collected the new cases, until December 31, 2002. The registry envisaged the presence of a data coordinating center (Dermatology Clinic in Bergamo), 3 regional centers (CMCE in Milan, IDI in Rome and Bari Hospital) that collected patients from North, Center and South Italy respectively, and DEBRA Italy. Results. In total, 697 cases have been notified (9 not yet classified), with 28% epidermolytic EB, 10% junctional EB and 62% dermolytic EB. EB incidence at December 31, 2002 was 0.1 new cases per million live births; prevalence at December 31,2002 was 10.1 affected patients per million Italians. Conclusion. This epidemiological evaluation is representative of the Italian situation; from these data a geographic distribution of the disease in our country can be traced, with significant effects on prevention strategy
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