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1.
Clin Cosmet Investig Dermatol ; 17: 713-716, 2024.
Article in English | MEDLINE | ID: mdl-38524391

ABSTRACT

Piebaldism is a rare genetic disorder caused by KIT mutations and clinically characterized by fixed depigmented patches throughout the body. Herein, a case of piebaldism in which the depigmented patches regressed as the patient grew older, along with the development of multiple café-au-lait macules, is described. The likely pathogenic, heterozygous KIT c.1991-2A>G variant was detected as the potential cause of this unusual piebaldism phenotype. This case provides new knowledge on genotype-phenotype correlation of KIT mutations for piebaldism etiology and presentation.

2.
Clin Exp Immunol ; 216(1): 80-88, 2024 03 12.
Article in English | MEDLINE | ID: mdl-38227774

ABSTRACT

T-cell recruitment to skin tissues is essential for inflammation in different cutaneous diseases; however, the mechanisms by which these T cells access the skin remain unclear. High endothelial venules expressing peripheral node address in (PNAd), an L-selectin ligand, are located in secondary lymphoid organs and are responsible for increasing T-cell influx into the lymphoid tissues. They are also found in non-lymphoid tissues during inflammation. However, their presence in different common inflammatory cutaneous diseases and their correlation with T-cell infiltration remain unclear. Herein, we explored the mechanisms underlying the access of T cells to the skin by investigating the presence of PNAd-expressing vessels in different cutaneous diseases, and its correlation with T cells' presence. Skin sections of 43 patients with different diseases were subjected to immunohistochemical and immunofluorescence staining to examine the presence of PNAd-expressing vessels in the dermis. The correlation of the percentage of these vessels in the dermis of these patients with the severity/grade of CD3+ T-cell infiltration was assessed. PNAd-expressing vessels were commonly found in the skin of patients with different inflammatory diseases. A high percentage of these vessels in the dermis was associated with increased severity of CD3+ T-cell infiltration (P < 0.05). Additionally, CD3+ T cells were found both around the PNAd-expressing vessels and within the vessel lumen. PNAd-expressing vessels in cutaneous inflammatory diseases, characterized by CD3+ T-cell infiltration, could be a crucial entry point for T cells into the skin. Thus, selective targeting of these vessels could be beneficial in cutaneous inflammatory disease treatment.


Subject(s)
Skin , T-Lymphocytes , Humans , Venules , Inflammation , Dermis
3.
Indian J Dermatol Venereol Leprol ; 85(5): 448-454, 2019.
Article in English | MEDLINE | ID: mdl-31389374

ABSTRACT

A number of social and cultural practices are prevalent in the Middle-East celebrating various occasions or to treat health conditions. These often result in dermatoses that are unfamiliar and confusing to dermatologists outside this region. This paper reviews skin manifestations emanating from traditional and ritual practices in Arab countries, particularly those from Saudi Arabia.


Subject(s)
Arabs , Ceremonial Behavior , Cultural Characteristics , Skin Diseases/chemically induced , Skin Diseases/ethnology , Cautery/adverse effects , Cupping Therapy/adverse effects , Humans , Naphthoquinones/adverse effects , Saudi Arabia/ethnology , Skin Diseases/etiology
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