Vitiligo is a chronic stigmatizing disease, already known for millennia, which
mainly affects melanocytes from epidermis basal layer, leading to the
development of hypochromic and achromic patches. Its estimated prevalence is
0.5% worldwide. The involvement of genetic factors controlling susceptibility to
vitiligo has been studied over the last decades, and results of previous studies
present vitiligo as a complex, multifactorial and polygenic disease. In this
context, a few genes, including DDR1, XBP1 and NLRP1 have been
consistently and functionally associated with the disease. Notwithstanding,
environmental factors that precipitate or maintain the disease are yet to be
described. The pathogenesis of vitiligo has not been totally clarified until now
and many theories have been proposed. Of these, the autoimmune hypothesis is now
the most cited and studied among experts. Dysfunction in metabolic pathways,
which could lead to production of toxic metabolites causing damage to
melanocytes, has also been investigated. Melanocytes adhesion deficit in
patients with vitiligo is mainly speculated by the appearance of Köebner
phenomenon, recently, new genes and proteins involved in this deficit have been
found.
In an unprecedented effort in the field of vitiligo, a global consensus resulted on a
suggested new classification protocol for the disease. The main histopathological
finding in vitiligo is the total absence of functioning melanocytes in the lesions,
while the inflammatory cells most commonly found on the edges of the lesions are CD4+
and CD8+ T lymphocytes. Physical and pharmacological treatment strategies aim to
control the autoimmune damage and stimulate melanocyte migration from the unaffected
edges of lesions and the outer hair follicle root sheath to the affected skin;
moreover, surgical treatments can be combined with topical and physical
treatments.
Mohs micrographic surgery is a technique used to excise skin tumors based on
comprehensive surgical mapping, in which the surgeon removes the tumor, followed
by a complete histological evaluation of the tumor's margins. The correlation of
the presence of a tumor in histological examinations and its precise location on
the surgical map result in a complete removal of the tumor with maximum normal
tissue preservation. The present article seeks to provide general practitioners
and healthcare specialists with guidelines regarding recommendations for Mohs
micrographic surgery to treat skin tumors, based on the most reliable evidence
available in medical literature on the subject. This bibliographic review of
scientific articles in this line of research was conducted based on data
collected from MEDLINE/PubMed. The search strategy used in this study was based
on structured questions in the Patient, Intervention, Control, and Outcome
(PICO) format. MeSH terms were used as descriptors. The indications of this
technique are related to recurrence, histology, size, definition of tumor
margins, and location of tumors. These guidelines attempt to establish the
indications of Mohs surgery for different types of skin tumors.
Vitiligo is a depigmenting disorder characterized by loss of functional melanocytes from the epidermis. Experimental data suggest that defective melanocyte adhesion may underlie the pathogenesis of the disease. In particular, association between vitiligo and genetic variants of the DDR1 gene involved in melanocyte adhesion has been recently published. A subsequent, independent study revealed lower expression of DDR1 in vitiligo lesions. Here, we expand this investigation by testing for association between vitiligo and polymorphisms of CDH1, IL1Band NOV (formerly CCN3), genes belonging to the DDR1 adhesion pathway, in two population samples of distinct design. Our results reveal that alleles of marker rs10431924 of the CDH1 gene are associated with vitiligo, especially in the presence of autoimmune comorbidities.
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