Incontinentia pigmenti hos en nyfødt dreng

Autor:	Kristin Bergmann, Pernille Axél Gregersen, Jesper Graakjær, Ali Tareen, Mette Sommerlund
Jazyk:	dánština
Rok vydání:	2021
Předmět:	Male congenital hereditary and neonatal diseases and abnormalities Klinefelter Syndrome Infant Newborn Humans Incontinentia Pigmenti sense organs skin and connective tissue diseases
Zdroj:	Bergmann, K, Gregersen, P A, Graakjær, J, Tareen, A & Sommerlund, M 2021, ' Incontinentia pigmenti hos en nyfødt dreng ', Ugeskrift for Laeger, bind 183, nr. 22, V03210247 . < https://ugeskriftet.dk/videnskab/incontinentia-pigmenti-hos-en-nyfodt-dreng > Aarhus University Bergmann, K, Gregersen, P A, Graakjær, J, Tareen, A & Sommerlund, M 2021, ' Incontinentia pigmenti in a newborn boy ', Ugeskrift for Laeger, vol. 183, no. 25 .
Popis:	Incontinentia pigmenti is an uncommon X-linked dominant neurocutaneous ectodermal dysplasia. The disorder is usually lethal in males in utero, although it may occasionally occur in males with somatic mosaicsism or Klinefelter syndrome. This is a case report of a rare case of incontinentia pigmenti in a newborn male who presented with characteristic skin eruptions following Blaschko's lines. Histopathology and genetic testing confirmed the diagnosis. The management of patients with incontinentia pigmenti may require a multidisciplinary approach, and early diagnosis is of great importance.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::24769594fdf8a4832cbe91cff92d5546 https://ugeskriftet.dk/videnskab/incontinentia-pigmenti-hos-en-nyfodt-dreng Zobrazit plný text záznamu