[Variable clinical expression of familial Incontinentia Pigmenti syndrome - presentation of three cases].
Incontinentia Pigmenti (IP, Bloch-Sulzberger syndrome, OMIM 308300) is a rare X-linked dominant genodermatosis, usually lethal in males in the prenatal period. Wide spectrum of clinical expression consists of skin hyperpigmented lines and swirling patterns, dysplastic teeth and nails, and in 30% central nervous system abnormalities including seizures, microcephaly and intellectual disability (10% of cases). In 80% of IP cases, the disease is caused by a large-scale deletion of exons 4 to 10 of the NEMO gene. Three cases of variable expression of Incontinentia Pigmenti are presented. In a one-year-old girl, her mother and grandmother molecular analysis revealed the same typical deletion of the NEMO gene. In the proband, characteristic skin lesions were detected located over the trunk and lower limbs. Characteristic evolution of the changes was observed. In the mother, expression of the disease was much milder, whereas in the grandmother lesions were restricted to the fingernails. Clinical characteristics and pedigree data are described.
Kutkowska-Kaźmierczak
Anna
A
Zakład Genetyki Medycznej Instytut Matki i Dziecka, ul. Kasprzaka 17a, 01-211 Warszawa, Poland. anna.kutkowska@imid.med.pl
Obersztyn
Ewa
E
Bonnefont
Jean-Paul
JP
Rosińska-Borkowska
Danuta
D
Mazurczak
Tomasz
T
Sobczyńska-Tomaszewska
Agnieszka
A
Mazurczak
Tadeusz
T
D000328:Adult; D000368:Aged; D002648:Child; D005260:Female; D006801:Humans; D051550:I-kappa B Kinase / Q000235:genetics*; D007184:Incontinentia Pigmenti / Q000175:diagnosis / Q000235:genetics*; D008969:Molecular Sequence Data; D010375:Pedigree; D020133:Reverse Transcriptase Polymerase Chain Reaction
C491731:IKBKG protein, human; D051550:I-kappa B Kinase