Related Experiment Videos
[Interstitial lung diseases with pulmonary hypertension associated with epidermolysis bullosa in an infant]
B Doeker1, A Hussein, E Trowitzsch
1Abt. Kinderkardiologie und Pulmonologie, Vestische Kinderklinik Datteln, Universität Witten-Herdecke.
Insights
This study reports a rare case of a neonate with epidermolysis bullosa and pulmonary hypertension. Combined therapy successfully normalized pulmonary hypertension, suggesting a potential link between these conditions.
Area of Science:
- Pediatric Pulmonology
- Dermatology
- Cardiology
Background:
- Interstitial lung diseases and epidermolysis bullosa are rare in infancy.
- The pathogenetic correlations and coincidence of these conditions are largely unknown.
Observation:
- A seven-week-old infant with consanguine parents presented with epidermolysis bullosa, tachypnea, and cyanosis.
- Echocardiography and cardiac catheterization confirmed persistent pulmonary hypertension.
- Lung biopsy revealed interstitial lymphocytic infiltration, desquamation, and arterial medial hypertrophy.
Findings:
- Combined therapy with prednisone and nifedipine normalized pulmonary hypertension and oxygen saturation.
- Epidermolysis bullosa activity did not correlate with the interstitial lung disease or its treatment.
Implications:
- This case highlights a potential, previously unreported association between epidermolysis bullosa and infantile pulmonary hypertension.
- Further research is warranted to explore the pathogenetic links and therapeutic strategies for such rare co-occurrences.
Abstract:
Interstitial lung diseases, with or without pulmonary hypertension and epidermolysis bullosa are rare in infancy. Pathogenetic correlations between these disease are not known and their coincidence has not been reported, yet. We report on a seven weeks old boy of consanguine parents with typical skin efflorescences of epidermolysis bullosa, tachydyspnoea and cyanosis. Echocardiography and cardiac catheterisation revealed pulmonary hypertension, which persisted under therapy with oxygen and nifedipin. Lung biopsy showed interstitial and peribronchiolar increased lymphocytes and lymphfollicels, a mild intraalveolar desquamation and a media hypertrophy of the arteries. A combined therapy of prednisone and nifedipine normalised the pulmonary hypertension and the oxygen saturation. The activity of the epidermolysis bullosa showed no correlation with the interstitial lung disease or with the therapy. A connection between both diseases is discussed.