Cardiopulmonary anomalies in incontinentia pigmenti patients

Giuliana Onnis, Andrea Diociaiuti, Paola Zangari, Patrizia D'Argenio, Caterina Cancrini, Lorenzo Iughetti, May El Hachem

Research output: Contribution to journalArticle

Abstract

Background: Incontinentia pigmenti (IP) is a rare inherited genodermatosis that usually involves the skin, and also teeth, oral cavity, central nervous system, eyes, blood with eosinophilia, and rarely skeletal system, breast, heart, and lungs. Skin lesions usually appear early, at birth or within the first 2 weeks of life, with four different phases tending to follow Blaschko lines that may overlap. Case report: We report a rare case of a neonate with transient reversible pulmonary hypertension that presented at day 9 of life. She manifested increasing dyspnea and deterioration of respiratory dynamics with a serious pulmonary hypertension without a primary pulmonary disease. Hence, oxygen therapy at high flows and nitric oxide have been administered with an initial response, but, subsequently, because of the worsening of the respiratory activity, she underwent sildenafil and bosentan treatment with respiratory dynamics improvement and progressive decrease of the pulmonary pressures. Conclusion: In literature only a few cases of cardiopulmonary anomalies in IP have been described with different outcomes, and these rare complications are probably underestimated by physicians. We could suppose that microangiopathic damages may have a critical role in endothelial alterations, and these processes are probably shared by multiple organs involved in IP and rarely by lungs and heart.

Original languageEnglish
JournalInternational Journal of Dermatology
DOIs
Publication statusAccepted/In press - Jan 1 2017

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Incontinentia Pigmenti
Pulmonary Hypertension
Lung
Skin
Eosinophilia
Dyspnea
Lung Diseases
Mouth
Tooth
Nitric Oxide
Breast
Central Nervous System
Parturition
Newborn Infant
Oxygen
Physicians
Pressure
Therapeutics

ASJC Scopus subject areas

  • Dermatology

Cite this

Cardiopulmonary anomalies in incontinentia pigmenti patients. / Onnis, Giuliana; Diociaiuti, Andrea; Zangari, Paola; D'Argenio, Patrizia; Cancrini, Caterina; Iughetti, Lorenzo; El Hachem, May.

In: International Journal of Dermatology, 01.01.2017.

Research output: Contribution to journalArticle

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AU - Diociaiuti, Andrea

AU - Zangari, Paola

AU - D'Argenio, Patrizia

AU - Cancrini, Caterina

AU - Iughetti, Lorenzo

AU - El Hachem, May

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