Journal article
Report From the International Conference on Incontinentia Pigmenti: Translating Discovery to Therapy
American journal of medical genetics. Part A
05/11/2026
DOI: 10.1002/ajmg.a.70195
PMID: 42109079
Abstract
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.
Details
- Title: Subtitle
- Report From the International Conference on Incontinentia Pigmenti: Translating Discovery to Therapy
- Creators
- Reid Wilson - Oregon Health & Science UniversityNicole Somani - University of IowaNancy Arias - University of MiamiAudina Berrocal - University of MiamiConnie Chen - Virginia Mason Medical CenterXi Chen - Duke UniversityEmily Cole - University of Colorado DenverPhillip Ehrich - University of LübeckTeresa Christina Faupel - University of LübeckPhilip Ferrone - Hofstra UniversityTim Fete - University of MissouriMary Fete - National Foundation for Ectodermal DysplasiasFrancesca Fusco - Institute of Genetics and BiophysicsMorton Goldberg - Johns Hopkins UniversityDorothy Katherine Grange - Washington University in St. LouisIan Han - University of IowaMary Elizabeth Hartnett - Stanford UniversityAliyah King - Showa UniversityJacques Monnet - Amer Sports (France)Eric Nudleman - University of California SystemShirley Parraga - East Carolina UniversityJeremie Rosain - Université Paris CitéMaddison Salois - East Carolina UniversityMarkus Schwaninger - University of LübeckEzia Spinosa - Institute of Genetics and BiophysicsSaravanan Thangarajan - Harvard UniversityEric Van Otterloo - University of IowaTimothy Wright - University of North Carolina at Chapel HillSandra Montezuma - University of MinnesotaJohn Peter Campbell - Oregon Health & Science University
- Resource Type
- Journal article
- Publication Details
- American journal of medical genetics. Part A
- DOI
- 10.1002/ajmg.a.70195
- PMID
- 42109079
- ISSN
- 1552-4825
- eISSN
- 1552-4833
- Publisher
- Wiley
- Grant note
- Malcolm Marquis Innovation Fund National Eye Institute: P30-EY105072 Research to Prevent Blindness National Foundation for Ectodermal Dysplasias
This work was supported by the National Foundation for Ectodermal Dysplasias; National Eye Institute, P30-EY105072; Research to Prevent Blindness; and Malcolm Marquis Innovation Fund.
- Language
- English
- Electronic publication date
- 05/11/2026
- Academic Unit
- Anatomy and Cell Biology; Craniofacial Anomalies Research Center; Dental Research; Periodontics; Ophthalmology and Visual Sciences
- Record Identifier
- 9985163703002771
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