Skip to Main content Skip to Navigation
Journal articles

Clinical profile of comorbidity of rare diseases in a Tunisian patient: a case report associating incontinentia pigmenti and Noonan syndrome

Abstract : 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 in the same patient. We report on the clinical phenotype and molecular characterization of this patient. The patient was examined by a pluridisciplinary staff of clinicians and geneticist. The clinical diagnosis of NS and IP was confirmed by molecular investigations. The newborn girl came to our clinics due to flagrant dysmorphia and dermatological manifestations. The clinical observations led to characterize the Incontinentia Pigmenti traits and a suspicion of a Noonan syndrome association. Molecular diagnosis was performed by Haloplex resequencing of 29 genes associated with RASopathies and confirmed the NS diagnosis. The common recurrent intragenic deletion mutation in IKBKG gene causing the IP was detected with an improved PCR protocol. CONCLUSION: This is the first report in the literature of comorbidity of NS and IP, two rare multisystem syndromes.
Complete list of metadatas

Cited literature [46 references]  Display  Hide  Download

https://hal-riip.archives-ouvertes.fr/pasteur-01882965
Contributor : Abdelhakim Ben Hassine <>
Submitted on : Thursday, September 27, 2018 - 3:26:54 PM
Last modification on : Wednesday, August 19, 2020 - 12:08:17 PM
Long-term archiving on: : Friday, December 28, 2018 - 3:59:35 PM

File

Clinical profile.pdf
Publication funded by an institution

Licence


Distributed under a Creative Commons Attribution 4.0 International License

Identifiers

Collections

Citation

Nehla Ghedira, Arnaud Lagarde, Karim Ben Ameur, Sahar Elouej, Rania Sakka, et al.. Clinical profile of comorbidity of rare diseases in a Tunisian patient: a case report associating incontinentia pigmenti and Noonan syndrome. BMC Pediatrics, BioMed Central, 2018, 18 (1), pp.286. ⟨10.1186/s12887-018-1259-8⟩. ⟨pasteur-01882965⟩

Share

Metrics

Record views

164

Files downloads

291