[Incontinentia pigmenti. Study of 3 families].
Ten cases of incontinentia pigmenti are reported. All patients, corresponding to three families, were female. In one case a Turner's syndrome phenotype (XO) with mosaicism 46 XX/46 X; i (Xq) was observed. This finding seems to confirm that the disease is transmitted through a dominant gene carried on the X chromosome. Dental alterations were the most frequent of associated abnormalities, being present in all 10 patients. We regard these abnormalities as important as they permit a retrospective diagnosis in adult patients after the skin lesions have disappeared. EEG alterations (essentially an increase in the slow component) were also observed in the majority of cases.
D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D004569:Electroencephalography; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D007184:Incontinentia Pigmenti / Q000235:genetics* / Q000473:pathology; D007223:Infant; D008875:Middle Aged; D010375:Pedigree; D010859:Pigmentation Disorders / Q000235:genetics*; D014071:Tooth Abnormalities / Q000235:genetics; D014960:X Chromosome
Incontinentia pigmenti. Etude de trois familles.