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- IRMS - Nicolae Testemitanu SUMPh
- 1. COLECȚIA INSTITUȚIONALĂ
- Revista de Științe ale Sănătății din Moldova
- Revista de Științe ale Sănătății din Moldova : Moldovan Journal of Health Sciences 2024 Vol. 11, Issue 2
Please use this identifier to cite or link to this item:
http://hdl.handle.net/20.500.12710/30059
Title: | Ectodermal dysplasia associated with immunodeficiency |
Authors: | Seethalekshmi, Vignesh Rishi Kumar Dolapciu, Elena |
Keywords: | ectodermal dysplasia;immunodeficiency;NEMO gene;IKBKB gene;genetic mutations |
Issue Date: | 2024 |
Publisher: | Instituţia Publică Universitatea de Stat de Medicină şi Farmacie „Nicolae Testemiţanu” din Republica Moldova |
Citation: | SEETHALEKSHMI, Vignesh Rishi Kumar, DOLAPCIU, Elena. Ectodermal dysplasia associated with immunodeficiency. In: Revista de Ştiinţe ale Sănătăţii din Moldova = Moldovan Journal of Health Sciences. 2024, vol. 11, nr. 3, anexa 2, p. 675. ISSN 2345-1467. |
Abstract: | Background. Mutated genes cause immune system and
ectodermal development cause a rare hereditary disorder
known as ectodermal dysplasia with immunodeficiency.
The intricate relationship between immune system dysfunction and ectodermal abnormalities highlights the difficulty in treating this disorder. Objective of the study.
To reflect the management methods, clinical presentation,
and genetic basis of Ectodermal Dysplasia with Immunodeficiency. Material and methods. Literature reviews on
ectodermal dysplasia associated with immunodeficiency
were utilized, employing inclusion and exclusion criteria,
thematic analysis, quality assessment, and ethical considerations across references. Limitations included potential
bias and language restrictions. Results. The two main genes
linked to EDI have been found to be mutated in NEMO and
IKBKB. Skin problems, dental anomalies, and scant hair
are clinical characteristics. Patients had varying degrees of immunological deficits and were often infected. Immunoglobulin replenishment, skin treatments, and routine
dental care are all components of effective management.
Conclusion. Improving patient outcomes for Ectodermal
Dysplasia with Immunodeficiency requires comprehensive
care. Genetic testing enables early diagnosis, which enables
focused treatment. Multidisciplinary therapy that includes
immunological, dental, and dermatological treatment can
greatly improve quality of life and lower the consequences. For impacted families, genetic counseling offers invaluable knowledge that helps them comprehend inheritance
patterns and make well-informed decisions on family planning. To effectively meet the multifaceted requirements of
persons with EDI, therapy and management strategies must
be customized and proactive. |
metadata.dc.relation.ispartof: | Revista de Științe ale Sănătății din Moldova = Moldovan Journal of Health Sciences |
URI: | https://cercetare.usmf.md/sites/default/files/inline-files/MJHS_11_3_2024_anexa2__site.pdf http://repository.usmf.md/handle/20.500.12710/30059 |
ISSN: | 2345-1467 |
Appears in Collections: | Revista de Științe ale Sănătății din Moldova : Moldovan Journal of Health Sciences 2024 Vol. 11, Issue 2
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