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

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.