Moosajee, M;
Ali, MA;
Wong, SC;
(2018)
Retinal Angiography Findings in Male Infant With Incontinentia Pigmenti and Sickle Cell Trait.
JAMA Ophthalmology
, 136
(11)
, Article e183140. 10.1001/jamaophthalmol.2018.3140.
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Abstract
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.
| Type: | Article |
|---|---|
| Title: | Retinal Angiography Findings in Male Infant With Incontinentia Pigmenti and Sickle Cell Trait |
| DOI: | 10.1001/jamaophthalmol.2018.3140 |
| Publisher version: | https://doi.org/10.1001/jamaophthalmol.2018.3140 |
| Language: | English |
| Additional information: | This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions. |
| Keywords: | Congenital Defects, Hematology, Pediatrics, Sickle Cell Disease, Ophthalmic Images |
| UCL classification: | UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Ophthalmology |
| URI: | https://discovery.ucl.ac.uk/id/eprint/10066958 |
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