American journal of medical genetics. Part A · 2026
Report From the International Conference on Incontinentia Pigmenti: Translating Discovery to Therapy.
Conference ProceedingsНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
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Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Wilson Reid, Somani Nicole, Arias Nancy, Berrocal Audina, Chen Connie, Chen Xi, Cole Emily, Ehrich Phillip, Faupel Teresa Christina, Ferrone Philip, Fete Tim, Fete Mary, Fusco Francesca, Goldberg Morton, Grange Dorothy Katherine, Han Ian, Hartnett Mary Elizabeth, King Aliyah, Monnet Jacques, Nudleman Eric, Parraga Shirley, Rosain Jeremie, Salois Maddison, Schwaninger Markus, Spinosa Ezia, Thangarajan Saravanan, Van Otterloo Eric, Wright Timothy, Montezuma Sandra, Campbell John Peter
Аннотация
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.