2018, Number 6
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Rev Clin Esc Med 2018; 8 (6)
Factores Genéticos y Epigenéticos en la Patogénesis de la Dermatitis Atópica
Grettchen FS
Language: Spanish
References: 18
Page: 37-44
PDF size: 474.12 Kb.
ABSTRACT
Introduction: Atopic dermatitis is the most
prevalent cutaneous disease worldwide, it belongs to
the group of disorders with common characteristics
of allergenic sensitization, epithelial barrier anomalies
and type 2 immune responses.
Objective: To
investigate the main genetic and epigenetic factors in
the pathogenesis of this disease.
Results: Different
investigations have shown that atopic dermatitis is
a disease with high heritability and heterogeneous
clinical phenotypes, which is precisely justified by
genetic mechanisms associated with the reciprocity
of immunological and epidermal effects, influenced
by epigenetic factors. The strongest known genetic
risk factor is the presence of null mutations in
FLG, however, mutations of this gene are neither
necessary nor sufficient.
Discussion: Gene therapy
for the treatment of atopic dermatitis, although it has
been postulated, should be considered with caution,
because the monoclonal antibodies do not constitute
with the current degree of knowledge a definitive
solution, given all the mechanisms involved and the
different expressions of the illness. In this context,
the concepts of bioethics and genetic counseling
acquire relevance.
Conclusions: Although from the
point of view of the forensic sciences, the description
of specific genetic alterations in a person or group
of people can allow their genetic identification or
biological filiation to a group; also for the forensic
doctor the possible development of specific therapy
that can vary the prognosis of disabling chronic
pathologies could be associated to the concepts
of “exhaustion of the therapeutic resource” and
“judicialization of medicine”.
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