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. C...
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| Format: | Article |
| Language: | English |
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BMC
2018-08-01
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| Series: | BMC Pediatrics |
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| Online Access: | http://link.springer.com/article/10.1186/s12887-018-1259-8 |
| _version_ | 1817977356252348416 |
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| author | Nehla Ghedira Arnaud Lagarde Karim Ben Ameur Sahar Elouej Rania Sakka Emna Kerkeni Fatma-Zohra Chioukh Sylviane Olschwang Jean-Pierre Desvignes Sonia Abdelhak Valerie Delague Nicolas Lévy Kamel Monastiri Annachiara De Sandre-Giovannoli |
| author_facet | Nehla Ghedira Arnaud Lagarde Karim Ben Ameur Sahar Elouej Rania Sakka Emna Kerkeni Fatma-Zohra Chioukh Sylviane Olschwang Jean-Pierre Desvignes Sonia Abdelhak Valerie Delague Nicolas Lévy Kamel Monastiri Annachiara De Sandre-Giovannoli |
| author_sort | Nehla Ghedira |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-13T22:15:18Z |
| format | Article |
| id | doaj.art-2075abb963354d6cb92751f79f22ca45 |
| institution | Directory Open Access Journal |
| issn | 1471-2431 |
| language | English |
| last_indexed | 2024-04-13T22:15:18Z |
| publishDate | 2018-08-01 |
| publisher | BMC |
| record_format | Article |
| series | BMC Pediatrics |
| spelling | doaj.art-2075abb963354d6cb92751f79f22ca452022-12-22T02:27:32ZengBMCBMC Pediatrics1471-24312018-08-011811710.1186/s12887-018-1259-8Clinical profile of comorbidity of rare diseases in a Tunisian patient: a case report associating incontinentia pigmenti and Noonan syndromeNehla Ghedira0Arnaud Lagarde1Karim Ben Ameur2Sahar Elouej3Rania Sakka4Emna Kerkeni5Fatma-Zohra Chioukh6Sylviane Olschwang7Jean-Pierre Desvignes8Sonia Abdelhak9Valerie Delague10Nicolas Lévy11Kamel Monastiri12Annachiara De Sandre-Giovannoli13Research Unit 01/UR/08-14, Faculty of Medicine of Monastir, University of MonastirAix Marseille University, INSERM, GMGFResearch Unit 01/UR/08-14, Faculty of Medicine of Monastir, University of MonastirAix Marseille University, INSERM, GMGFResearch Unit 01/UR/08-14, Faculty of Medicine of Monastir, University of MonastirResearch Unit 01/UR/08-14, Faculty of Medicine of Monastir, University of MonastirResearch Unit 01/UR/08-14, Faculty of Medicine of Monastir, University of MonastirAix Marseille University, INSERM, GMGFAix Marseille University, INSERM, GMGFInstitut Pasteur de Tunis, Laboratoire de Genomique Biomedicale et Oncogenetique LR11IPT05Aix Marseille University, INSERM, GMGFAix Marseille University, INSERM, GMGFResearch Unit 01/UR/08-14, Faculty of Medicine of Monastir, University of MonastirAix Marseille University, INSERM, GMGFAbstract 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.http://link.springer.com/article/10.1186/s12887-018-1259-8Noonan syndromeRAS-MAPK pathwayRAF1DysmorphismIncontinentia PigmentiX-linked disorder |
| spellingShingle | Nehla Ghedira Arnaud Lagarde Karim Ben Ameur Sahar Elouej Rania Sakka Emna Kerkeni Fatma-Zohra Chioukh Sylviane Olschwang Jean-Pierre Desvignes Sonia Abdelhak Valerie Delague Nicolas Lévy Kamel Monastiri Annachiara De Sandre-Giovannoli Clinical profile of comorbidity of rare diseases in a Tunisian patient: a case report associating incontinentia pigmenti and Noonan syndrome BMC Pediatrics Noonan syndrome RAS-MAPK pathway RAF1 Dysmorphism Incontinentia Pigmenti X-linked disorder |
| title | Clinical profile of comorbidity of rare diseases in a Tunisian patient: a case report associating incontinentia pigmenti and Noonan syndrome |
| title_full | Clinical profile of comorbidity of rare diseases in a Tunisian patient: a case report associating incontinentia pigmenti and Noonan syndrome |
| title_fullStr | Clinical profile of comorbidity of rare diseases in a Tunisian patient: a case report associating incontinentia pigmenti and Noonan syndrome |
| title_full_unstemmed | Clinical profile of comorbidity of rare diseases in a Tunisian patient: a case report associating incontinentia pigmenti and Noonan syndrome |
| title_short | Clinical profile of comorbidity of rare diseases in a Tunisian patient: a case report associating incontinentia pigmenti and Noonan syndrome |
| title_sort | clinical profile of comorbidity of rare diseases in a tunisian patient a case report associating incontinentia pigmenti and noonan syndrome |
| topic | Noonan syndrome RAS-MAPK pathway RAF1 Dysmorphism Incontinentia Pigmenti X-linked disorder |
| url | http://link.springer.com/article/10.1186/s12887-018-1259-8 |
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