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Case Reports
. 2017 May 9:13:629-634.
doi: 10.2147/TCRM.S134705. eCollection 2017.

Pulmonary hypertension and vasculopathy in incontinentia pigmenti: a case report

Abduljabbar Alshenqiti  1 , Marwan Nashabat  1 , Hissah AlGhoraibi  1 , Omar Tamimi  2 , Majid Alfadhel  1
Affiliations
Case Reports

Pulmonary hypertension and vasculopathy in incontinentia pigmenti: a case report

Abduljabbar Alshenqiti et al. Ther Clin Risk Manag. .

Abstract

Incontinentia pigmenti (IP; Bloch-Sulzberger syndrome) is a rare, genetic syndrome inherited as an X-linked dominant trait. It primarily affects female infants and is lethal in the majority of males during fetal life. The clinical findings include skin lesions, developmental defects, and defects of the eyes, teeth, skeletal system, and central nervous system. Cardiovascular complications of this disease in general, and pulmonary hypertension in particular, are extremely rare. This report describes the case of a 3-year-old girl with IP complicated by pulmonary arterial hypertension. Extensive cardiology workup done to the patient indicates underlying vasculopathy. This report sheds light on the relationship between IP and pulmonary hypertension, reviews the previously reported cases, and compares them with the reported case.

Keywords: Bloch-Sulzberger syndrome; IKBKG; hyperpigmentation; incontinentia pigmenti; lines of Blaschko; pulmonary hypertension; vasculopathy.

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Conflict of interest statement

Disclosure The authors report no conflicts of interest in this work.

Figures

Figure 1
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
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.
See this image and copyright information in PMC

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