Pulmonary hypertension and vasculopathy in incontinentia pigmenti: a case report

Figures & data

Figure 1 Patient’s skin and teeth manifestations.

Notes: (A, B) Hyperpigmented lesions on the back and abdomen; (C) stage 4 hypopigmented lesion on the lower limbs; (D) conoid and missing teeth.

Figure 2 Cardiac catheterization.

Notes: (A) Right pulmonary artery; (B) left pulmonary artery. Black arrows point to collateral vessels; white arrows point to right and left pulmonary arteries.

Table 1 Summary of IP cases with PHTN

Clinical characteristics	Triki et al^Citation23	Miteva and Nikolova^Citation24	Hayes et al^Citation25	Godambe et al^Citation10	Yasuda et al^Citation26	Present case
Family history	Not mentioned	Abortion of male at 6 months’ gestation	Yes; mother and maternalgrandmother	Negative	Yes	Negative
Age of diagnosis of PHTN	2 months	6 months	15 days	Immediately after birth	2 months	Immediately after birth
Other cardiac anomaly	No	Tricuspid insufficiency and abnormal shunt of right pulmonary artery to superior vena cava	Right ventricular hypertrophy	First echo: PHTN, small atrial septal defect Second echo: – Dilated right ventricle – Marked tricuspid and pulmonary regurgitation	Tricuspid valve regurgitation, severe right ventricular pressure elevation, patent foramen ovale	Atrial septal defect
Neurological	Convulsions on the fifth day of life. Brain CT scan showed diffuse hypodensities in the left hemisphere	Microcephaly, seizure, and hypotonia	Brain MRI showed multiple small areas of petechial hemorrhage. There was an area of cystic encephalomalacia in the right frontal lobe. The septum pellucidum was absent, with fusion of the fornices	Brain MRI showed polymicrogyria in the perisylvian area with cortical dysplasia	Neonatal seizures, multiple cerebral infarctions, multicystic encephalomalacia	Normal
Eyes	Not mentioned	Strabismus	Normal	Unilateral temporal avascular retina in zone III and bilateral peripheral straightened vessels and retinal hemorrhages	Not mentioned	Normal
Teeth	Not mentioned	Not mentioned	Not applicable	Not applicable	Not applicable	Missing teeth, conoid teeth
Hair	Not mentioned	Normal	Not mentioned	Large patch of alopecia on the scalp	Not mentioned	Wooly hair
Nails	Not mentioned	Normal	Not mentioned	Not mentioned	Not mentioned	Normal
Other anomalies or complications	Not mentioned	Not mentioned	Right hand was absent (acheiria)			GERD
Gene test	Not mentioned	Not mentioned	Not mentioned	Confirmed	Confirmed	Confirmed
Eosinophil	Not mentioned	26%	Not mentioned	Not mentioned	Hypereosinophilia (34 500/μL)	1.40%
Mortality	Died at 2 months of age	Alive at 6/12 months (at the time of publication)	Died on day 47 of life	Died on day 26 of life	Died at 5 months of age	Still alive at 3 years of age

Abbreviations: IP, incontinentia pigmenti; PHTN, pulmonary hypertension; CT, computed tomography; MRI, magnetic resonance imaging; GERD, gastroesophageal reflux disease.

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