A case of reversible pulmonary arterial hypertension associated with incontinentia pigmenti

Abstract

Incontinentia pigmenti (IP) is a multisystemic disorder in which pulmonary arterial hypertension (PAH) is a severe and rarely reported association. The prognosis has been poor in reported cases. In our patient, IP was diagnosed during the neonatal period with a combination of cutaneous, ophthalmic, and neurological symptoms. The infant experienced severe collapse with bradycardia during general anesthesia to treat retinal telangiectasia. Echocardiography after resuscitation revealed suprasystemic pulmonary hypertension (PH). Right heart catheterization (RHC) confirmed precapillary PAH not responding to acute vasodilatation test. Lung biopsy was performed to exclude alveolo-capillary dysplasia. Upfront triple therapy with endothelin receptor antagonist, PDE5 inhibitors, and prostacyclin was started. Due to a potential inflammatory mechanism of this acute PAH in the setting of IP, TNF-alpha blockers and steroids were associated. The evolution was favorable with progressive normalization of the pulmonary artery pressure confirmed by RHC after six months. Doses of PAH drugs were tapered down, and finally all PAH treatments could be stopped after 18 months. Subsequent controls including physical exams and echocardiograms did not show signs of PH. This unusual reversible case of pediatric PAH without associated congenital heart disease or portal hypertension highlights the potential reversibility of pediatric PH when an inflammatory mechanism can be suspected. This is the first reported case of non-fatal isolated PAH associated with IP.

Keywords: Pulmonary arterial hypertension; genetics / genomics / epigenetics; pediatric cardiovascular disease; pediatrics; pulmonary hypertension.

Fig. 1.

Skin involvement typical of IP: rash with warty inflammatory lesions on the lines of Blaschko.

Fig. 2.

(a) Marked intimal thickening (arrow) due to cellular intimal proliferation in a pulmonary artery (H&E, ×100). (b) Duplicated internal elastic lamina (star; orcein staining of elastic fibers, ×100).