Article
Clinical profile of comorbidity of rare diseases in a Tunisian patient: a case report associating incontinentia pigmenti and Noonan syndrome.
BMC pediatrics - 29 Aug 2018
Ghedira Nehla, Lagarde Arnaud, Ben Ameur Karim, Elouej Sahar, Sakka Rania, Kerkeni Emna, Chioukh Fatma-Zohra, Olschwang Sylviane, Desvignes Jean-Pierre, Abdelhak Sonia, Delague Valerie, Lévy Nicolas, Monastiri Kamel, De Sandre-Giovannoli Annachiara
Abstract excerpt
BACKGROUND: Noonan syndrome (NS) is an autosomal dominant multisystem disorder caused by the dysregulation of several genes belonging to the RAS Mitogen Activated Protein Kinase (MAPK) signaling pathway. Incontinentia Pigmenti (IP) is an X-linked, dominantly inherited multisystem disorder. CASE PRESENTATION: This study is the first report of the coexistence of Noonan (NS) and Incontinentia Pigmenti (IP) syndromes...
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