A successful treatment of tadalafil in incontinentia pigmenti with pulmonary hypertension
Introduction
Incontinentia pigmenti (IP) is a rare X-linked dominant genodermatosis that affects many organs, particularly the skin (Smahi et al., 1994). The prognosis of IP is generally good but if it is associated with pulmonary arterial hypertension (PAH), the prognosis is extremely poor (Yasuda et al., 2016). In most reported cases of this combination, there has been poor response to pulmonary vasodilators. Both the pathophysiology and optimal therapy of IP-associated PAH are unknown. We present a case of IP with severe PAH which was markedly improved by tadalafil treatment.
Section snippets
Case presentation
A 1-day-old girl born at 38 weeks’ gestation and weighing 3044 g was referred to our institution because of seizures and a generalized skin rash. The skin lesions included erythema, blistering and hyperpigmentation. Skin biopsy specimen revealed inflammatory infiltrate containing eosinophils and spongiosis in epidermis which is compatible with the diagnosis of IP. Pathology examination of a skin biopsy specimen revealed IP. Ophthalmologic examination showed normal findings in the eye grounds.
Discussion
Although severe PAH occurred in this infant with IP, it markedly improved with tadalafil administration. Several published case reports have noted a poor prognosis for patients with severe PAH associated with IP (Yasuda et al., 2016; Triki et al., 1992; Hayes et al., 2005; Godambe et al., 2005). In contrast, our patient responded well to a pulmonary vasodilator drug with dramatic improvement confirmed by cardiac catheterization. To the best of our knowledge, this is the first report showing the
Acknowledgements
We are grateful to Dr. Hajime Nakano, professor of Department of Dermatology, Hirosaki University Graduate School of Medicine for the molecular evaluation.
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