Unraveling incontinentia pigmenti: A comparison of phenotype and genotype variants - 11/10/19
Abstract |
Background |
Incontinentia pigmenti (IP) is a rare X-linked dominant genodermatosis that affects multiple systems with highly variable phenotypic expressivity. Although most affected individuals carry a common pathogenic variant on the IKBKG gene, approximately 20% have no identifiable mutation.
Objective |
To describe clinical characteristics and genotype of IP patients and compare clinical differences between IKBKG pathogenic variant positive and negative cohorts.
Methods |
Retrospective cohort study conducted at a large tertiary pediatric center from 1990 to 2017, for children with a clinical diagnosis of IP.
Results |
Forty-two children with IP were identified, including 33 of 42 (79%) females. Most presented with cutaneous stage I findings (31 of 42; 74%). Extracutaneous involvements were common: dental (50%), ocular (31%), hair (31%), nail (15%), and neurodevelopmental (26%). An IKBKG pathogenic variant was detected in 20 of 34 (59%) patients. Compared with these, 14 of 34 (41%) patients who tested negative were significantly more likely (P < .05) to be male, have no family history of IP, and have lower incidences of dental and hair anomalies.
Limitations |
Retrospective methodology limits clear determination of the temporality of symptoms.
Conclusion |
Clinical differences between IKBKG pathogenic variant positive and negative IP cohorts support the prognostic utility of molecular genetic evaluation.
Le texte complet de cet article est disponible en PDF.Key words : clinical genetics, genodermatosis, incontinentia pigmenti, pediatric dermatology
Abbreviations used : IP, CNS
Plan
| Funding sources: None. |
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| Conflicts of interest: None disclosed. |
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| Prior presentations: (1) Poster presentation at Canadian Paediatrics Society Annual Meeting, May 2018; (2) Poster presentation at Society of Pediatric Dermatology Conference, July 2018. |
Vol 81 - N° 5
P. 1142-1149 - novembre 2019 Retour au numéro
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