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Incontinentia Pigmenti

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Skin and the Heart

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Abstract

Incontinentia pigmenti (IP) is an X-linked dominant multisystem genodermatosis lethal in XY males due to loss-of-function mutations in the IKBKG gene. Classically, cutaneous lesions are present in a female infant soon after birth, show a linear distribution along the Blaschko lines, and evolve in four stages: vesiculo-bullous, verrucous, pigmentary and atrophic hypopigmented. IP associates anomalies of the teeth, hair and nails with ocular and neurological impairment. A few cases of IP have been reported in association with cardiopulmonary abnormalities, notably primary pulmonary hypertension (PHTN).

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Authors and Affiliations

  1. Service of Dermatology and Venerology, CHUV, FBM-UNIL, Lausanne, Switzerland

    Elena Chiticariu & Daniel Hohl

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  1. Elena Chiticariu
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  2. Daniel Hohl
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Correspondence to Daniel Hohl .

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Editors and Affiliations

  1. Paediatric Dermatology Department, Colentina Clinical Hospital, “Carol Davila”, University of Medicine and Pharmacy, Bucharest, Romania

    Carmen Salavastru

  2. Professor of Dermatology, University of New South Wales, Sydney, NSW, Australia

    Dedee F. Murrell

  3. Department of Cardiology, Liverpool Hospital, University of New South Wales, Sydney, NSW, Australia

    James Otton

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Chiticariu, E., Hohl, D. (2021). Incontinentia Pigmenti. In: Salavastru, C., Murrell, D.F., Otton, J. (eds) Skin and the Heart. Springer, Cham. https://doi.org/10.1007/978-3-030-54779-0_6

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  • DOI: https://doi.org/10.1007/978-3-030-54779-0_6

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-030-54778-3

  • Online ISBN: 978-3-030-54779-0

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