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.
