De Novo incontinentia pigmenti in female twins.

Abstract

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.

• Authors: Pen-Hua Su, Jia-Yuh Chen, Ju-Shan Yu, Chi-Ming Su, Tzu-Ching Huang, Suh-Jen Chen
• Journal: Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi (Acta Paediatr Taiwan) 2004 May-Jun Vol. 45 Issue 3 Pg. 178-80 ISSN: 1608-8115 [Print] China (Republic : 1949- )
• PMID: 15493740 (Publication Type: Case Reports, Journal Article)

Chemical References

• Carrier Proteins
• IKBKG protein, human
• I-kappa B Kinase

Topics

• Carrier Proteins (genetics)
• Female
• Genetic Diseases, X-Linked (genetics, pathology)
• Humans
• I-kappa B Kinase
• Incontinentia Pigmenti (genetics, pathology)
• Infant, Newborn
• Infant, Premature
• Male
• Mutation
• Pedigree
• Polymerase Chain Reaction
• Twins