Report From the International Conference on Incontinentia Pigmenti: Translating Discovery to Therapy
Incontinentia pigmenti (IP) is a rare, X-linked dominant condition characterized by a perinatal rash as well as abnormalities of the central nervous system (CNS), eyes, hair, nails, and teeth. The CNS and ophthalmic manifestations are potentially severe and may lead to neurologic impairment and vision loss. Due to the rarity of IP, there remains a limited understanding of its physiology, and the guidelines for screening, clinical staging, and management of complications remain controversial. To address these gaps, a multidisciplinary, international conference on IP was held in Charlotte, North Carolina, from February 21 to 23, 2025. The meeting was hosted by the National Foundation for Ectodermal Dysplasias and the Oregon Health Sciences University. This report summarizes the discussion and recommendations from the conference, including guidance for screening of ophthalmic complications, as well as next steps for pursuing therapeutic interventions.
Authors
- Markus Schwaninger (ORCID: https://orcid.org/0000-0002-4510-9718)
- Francesca Fusco (ORCID: https://orcid.org/0000-0002-7578-6058)
- Dorothy K. Grange (ORCID: https://orcid.org/0000-0001-7425-6322)
- J. Peter Campbell (ORCID: https://orcid.org/0000-0001-7964-9475)
- Ezia Spinosa (ORCID: https://orcid.org/0009-0000-4358-557X)
- Eric Van Otterloo (ORCID: https://orcid.org/0000-0001-5958-5742)
- Jérémie Rosain (ORCID: https://orcid.org/0000-0002-2822-161X)
- Nancy Arias (ORCID: https://orcid.org/0000-0002-9445-5289)
- X Chen
- Aliyah King (ORCID: https://orcid.org/0009-0009-3342-265X)
- Phillip Ehrich
- Teresa Christina Faupel (ORCID: https://orcid.org/0009-0006-8650-9044)
- Connie Chen (ORCID: https://orcid.org/0000-0001-5016-6584)
- Morton Goldberg
- Jacques Monnet
- Saravanan Thangarajan
- Philip Ferrone
- Nicole Somani
- Eric Nudleman
- Mary Elizabeth Hartnett
- Tim Fete
- Sandra Montezuma
- Emily Cole
- Timothy Wright (ORCID: https://orcid.org/0000-0001-5583-7535)
- Maddison Salois (ORCID: https://orcid.org/0000-0001-7421-9513)
- Shirley Parraga
- Audina Berrocal
- Ian Han (ORCID: https://orcid.org/0000-0002-2371-727X)
- Reid Wilson
- Mary Fete (ORCID: https://orcid.org/0009-0001-9415-1656)
Institutions
- University of North Carolina at Chapel Hill (US)
- SHOWA Medical University (JP)
- University of Iowa (US)
- University of Minnesota (US)
- Virginia Mason Medical Center (US)
- Harvard University (US)
- Hofstra University (US)
- Johns Hopkins University (US)
- University of Miami (US)
- Oregon Health & Science University (US)
- Duke University (US)
- East Carolina University (US)
- Washington University in St. Louis (US)
- Université Paris Cité (FR)
- Johns Hopkins Medicine (US)
- University of California System (US)
- University of California San Diego (US)
- Vitreous Retina Macula Consultants of New York (US)
- National Foundation for Ectodermal Dysplasias (US)
- Miami Dermatology and Laser Institute (US)
- Amer Sports (France) (FR)
- Institute of Genetics and Biophysics (IT)
- Institut des Maladies Génétiques Imagine (FR)
- Smith-Kettlewell Eye Research Institute (US)
- University of Missouri (US)
- Columbia College - Missouri (US)
- University of Colorado Denver (US)
- University of Lübeck (DE)
- Stanford University (US)
Publication Details
- Journal
- American Journal of Medical Genetics Part A
- Published
- 2026-05-11
- DOI
- https://doi.org/10.1002/ajmg.a.70195
- Primary Topic
- Genetic and rare skin diseases.
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Research to Prevent Blindness
- National Foundation for Ectodermal Dysplasias
- National Eye Institute