UNRAVELING INCONTINENTIA PIGMENTI: A COMPARISON OF PHENOTYPE AND GENOTYPE VARIANTS
| العنوان: | UNRAVELING INCONTINENTIA PIGMENTI: A COMPARISON OF PHENOTYPE AND GENOTYPE VARIANTS |
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| المؤلفون: | Elena Pope, Peter Kannu, Irene Lara-Corrales, Rebecca Wang |
| المصدر: | Paediatrics & Child Health. 23:e32-e32 |
| بيانات النشر: | Oxford University Press (OUP), 2018. |
| سنة النشر: | 2018 |
| مصطلحات موضوعية: | Male, medicine.medical_specialty, Genotype, Dermatology, Cohort Studies, 030207 dermatology & venereal diseases, 03 medical and health sciences, 0302 clinical medicine, IKBKG, Humans, Medicine, Incontinentia Pigmenti, Expressivity (genetics), Child, Retrospective Studies, business.industry, Genodermatosis, Genetic Variation, Retrospective cohort study, Incontinentia pigmenti, medicine.disease, Phenotype, 030220 oncology & carcinogenesis, Clinical diagnosis, Pediatrics, Perinatology and Child Health, Medical genetics, Female, Abstract / Résumés, business |
| الوصف: | BACKGROUND Incontinentia pigmenti (IP) is a rare X-linked dominant genodermatosis that predominantly affects the skin, beginning with a characteristic linear vesicular rash shortly after birth. Multisystem abnormalities can further be seen in hair, nail, ocular, dental, and central nervous system. Although most affected individuals carry a common pathological deletion of the IKBKG gene, approximately 20% have no molecular confirmation. There remains a lack of understanding of phenotypic variations between mutation positive and negative patients with IP. OBJECTIVES We aim to 1) Describe clinical characteristics, phenotype, and genotype of patients with IP, and 2) Compare clinical differences between mutation positive and negative cohorts. DESIGN/METHODS A retrospective chart review was conducted at a large tertiary paediatric centre from January 1990 to June 2017, for children under 19 with a clinical diagnosis of IP by a paediatric dermatologist or geneticist. Baseline characteristics, diagnostic history, family history, cutaneous and extracutaneous symptoms were extracted. Further subspecialty reports such as dental and ophthalmology, and available laboratory results including bloodwork, histopathology, and genetic reports were reviewed. Patients who had undergone molecular genetic testing were further divided into either positive (IKBKG mutation) or negative (no identifiable mutation) genetics cohorts for analyses. RESULTS A total of 44 children with IP were identified, including 79% female, 64% white (non-hispanic), 24% with IP family history, and 85% were confirmed on biopsy. Median age at first dermatology or genetics consult was 6 weeks and 26% had undergone a full septic workup (cultures negative) prior for the IP rash. Extracutaneous involvements were common: dental (49%), ocular (32%), hair (31%), nail (15%), and neurodevelopmental (24%). Compared to the mutation positive (59%) cohort, those with negative mutations (41%) were significantly more likely to be male, have a negative family history of IP, and lower incidences of dental and hair anomalies (P CONCLUSION Clinical approach to IP should involve not only dermatology and genetics evaluation, but may benefit from multidisciplinary monitoring for extracutaneous manifestations. Findings of unique clinical variations between positive and negative mutation cohorts suggests the need for further in-depth evaluation into key differences as they may affect disease counselling and future prognosis. |
| تدمد: | 1918-1485 1205-7088 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f4b0b7c22c94212e38766cd8f60e9d1Test https://doi.org/10.1093/pch/pxy054.083Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....6f4b0b7c22c94212e38766cd8f60e9d1 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 19181485 12057088 |
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