De Novo incontinentia pigmenti in female twins.
The cutaneous lesions of incontinentia pigmenti classically evolve in stages, beginning with erythematous vesicular rash and bullae, followed by verrucose lesions, with an eventual macular pattern of splashed or whorled hyperpigmentation. We describe female twins presenting with the classic form of cutaneous expression. Ophthalmologic examination revealed abnormal vascular proliferations in the peripheral retinas in twin B. Several studies have confirmed linkage of familial incontinentia pigmenti to chromosome Xq28, with the factor VIII gene in Xq28 identified as the locus for incontinentia pigmenti. Two-hundred kilobases proximal to this locus, the gene for NEMO (NF-kappaB essential modulator)/IKKgamma (I kappaB kinase-gamma) has been mapped. We describe herein female twins with incontinentia pigmenti caused by a de novo mutation of this locus, as demonstrated by diagnostic polymerase chain reaction.
Su
Pen-Hua
PH
Department of Medical Genetics and Pediatrics, Chung Shan Medical University Hospital, Taichung, Taiwan.
Chen
Jia-Yuh
JY
Yu
Ju-Shan
JS
Su
Chi-Ming
CM
Huang
Tzu-Ching
TC
Chen
Suh-Jen
SJ
D002352:Carrier Proteins / Q000235:genetics; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000235:genetics* / Q000473:pathology; D006801:Humans; D051550:I-kappa B Kinase; D007184:Incontinentia Pigmenti / Q000235:genetics* / Q000473:pathology; D007231:Infant, Newborn; D007234:Infant, Premature; D008297:Male; D009154:Mutation; D010375:Pedigree; D016133:Polymerase Chain Reaction; D014427:Twins
D002352:Carrier Proteins; C491731:IKBKG protein, human; D051550:I-kappa B Kinase