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Pediatr Int. 2016 May;58(5):394-396. doi: 10.1111/ped.12831.

Fatal pulmonary arterial hypertension in an infant girl with incontinentia pigmenti.

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Department of Pediatrics, Shimane University Faculty of Medicine, Izumo City, Shimane, Japan.
Division of Blood Transfusion, Shimane University Hospital, Izumo City, Shamane, Japan.


We report the case of an infant girl with incontinentia pigmenti (IP) complicated by fatal pulmonary arterial hypertension (PAH). She was diagnosed with IP, based on the presence of specific skin lesions, neonatal seizures, hypereosinophilia and a maternal family history of IP. At the age of 2 months, she was diagnosed with PAH on systolic heart murmur due to tricuspid valve regurgitation. Despite several treatments for PAH but not including epoprostenol, severe PAH persisted and she died of pulmonary hypertensive crisis at the age of 5 months. On postmortem histopathology the pulmonary artery had severe intimal thickening, with occlusion or stenosis of the vascular lumen of the small pulmonary arteries as well as partial plexiform lesions, all of which were compatible with PAH. Modulation of nuclear factor-κB signaling may be involved in the development of PAH in IP.


incontinentia pigmenti; intimal thickening; nuclear factor-κB essential modulator gene; plexiform lesion; pulmonary arterial hypertension


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