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Pulmonary hypertension and vasculopathy in incontinentia pigmenti: a case report

Abduljabbar Alshenqiti1, Marwan Nashabat1, Hissah AlGhoraibi1

  • 1Division of Genetics, Department of Pediatrics, King Abdullah International Medical Research Centre, King Saud bin Abdulaziz Uiversity for Health Sciences, King Abdulaziz Medical City, Ministry of National Guard Health Affairs (NGHA), Riyadh, Saudi Arabia.

Therapeutics and Clinical Risk Management
|May 24, 2017
PubMed

Insights

Incontinentia pigmenti (IP) is a rare genetic disorder. This case highlights a rare complication of pulmonary arterial hypertension in a child with IP, suggesting a potential vasculopathy link.

Area of Science:

  • Genetics
  • Pediatrics
  • Cardiology

Background:

  • Incontinentia pigmenti (IP), also known as Bloch-Sulzberger syndrome, is a rare X-linked dominant genetic disorder.
  • IP typically presents with skin lesions and affects multiple organ systems, including the eyes, teeth, skeletal, and central nervous systems.
  • Cardiovascular complications, particularly pulmonary hypertension, are exceptionally rare in IP patients.

Observation:

  • This report details a 3-year-old female diagnosed with Incontinentia pigmenti.
  • The patient presented with a rare complication of pulmonary arterial hypertension.
  • Cardiology evaluations suggested an underlying vasculopathy contributing to the condition.

Findings:

  • The case demonstrates a rare association between Incontinentia pigmenti and pulmonary arterial hypertension.
  • Analysis of the patient's condition points towards a potential vasculopathic component in IP.
  • Review and comparison with previously reported cases are discussed.

Implications:

  • This case expands the understanding of potential cardiovascular manifestations in Incontinentia pigmenti.
  • It underscores the importance of considering pulmonary hypertension in IP patients with cardiac symptoms.
  • Further research into the link between IP and vasculopathy may reveal new diagnostic and therapeutic strategies.

Keywords:
Bloch-Sulzberger syndromeIKBKGhyperpigmentationincontinentia pigmentilines of Blaschkopulmonary hypertensionvasculopathy

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