A successful treatment of tadalafil in incontinentia pigmenti with pulmonary hypertension

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Abstract

We describe a female infant with incontinentia pigmenti complicated by severe pulmonary arterial hypertension that was markedly improved by tadalafil administration. The infant was referred to our institution because of neonatal seizures and generalized skin rash at the age of 1 day. She was diagnosed with incontinentia pigmenti on skin biopsy findings. In addition to incontinentia pigmenti, she had pulmonary arterial hypertension without structural heart disease. The pulmonary hypertension rapidly worsened at the age of 2 months and was confirmed by cardiac catheterization. The pulmonary artery pressure was equal to systemic pressure but it decreased in response to nitric oxide inhalation. We, therefore, initiated treatment with tadalafil of 1 mg/kg/day. The follow-up cardiac catheterization performed at 9 months revealed dramatic improvement in the pulmonary artery pressure. An IKBKG mutation with deletion of exons 4–10 was detected in the blood of both the patient and her mother. Our experience indicates that tadalafil may be beneficial in treating pulmonary arterial hypertension associated with incontinentia pigmenti.

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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