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Ophthalmic Images
November 8, 2018

Retinal Angiography Findings in Male Infant With Incontinentia Pigmenti and Sickle Cell Trait

Author Affiliations
  • 1Department of Ophthalmology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, England
  • 2National Institute for Health Research Biomedical Research Centre, Moorfields Eye Hospital NHS Foundation Trust, and UCL Institute of Ophthalmology, London, England
  • 3Department of Ophthalmology, Royal Free Hospital NHS Foundation Trust, London, England
JAMA Ophthalmol. 2018;136(11):e183140. doi:10.1001/jamaophthalmol.2018.3140

A full-term Afro-Caribbean boy presented at 1 week of age with vesiculobullous eruptions on his limbs and linear hyperpigmented lesions (Blaschko lines). His emerging teeth were conically shaped. Sequencing demonstrated heterozygous deletion of exons 4 to 10 in IKBKG (OMIM 300248), confirming a diagnosis of incontinentia pigmenti. Incontinentia pigmenti is commonly lethal in utero in males, unless associated with Klinefelter (or XXY) syndrome or somatic mosaicism.1 An incidental diagnosis of sickle cell trait was made.

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