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Cardiopulmonary anomalies in incontinentia pigmenti patients
Author(s) -
Onnis Giuliana,
Diociaiuti Andrea,
Zangari Paola,
D'Argenio Patrizia,
Cancrini Caterina,
Iughetti Lorenzo,
El Hachem May
Publication year - 2018
Publication title -
international journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.677
H-Index - 93
eISSN - 1365-4632
pISSN - 0011-9059
DOI - 10.1111/ijd.13835
Subject(s) - medicine , incontinentia pigmenti , genodermatosis , pulmonary hypertension , sildenafil , respiratory system , bosentan , pathology , cardiology , dermatology , biochemistry , chemistry , receptor , endothelin receptor , gene
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.