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The scabies mite is known to induce a complicated immune response that involves both innate and long-term adaptive immunity. Many immune effectors and pathways are involved. Th17/Treg balance can influence the complex immune response to scabies. The immunological effectors including IL-17A, as a pro-inflammatory cytokine, and Treg cells, anti-inflammatory regulatory T cells, are essential for preserving cutaneous immunological homeostasis. So, evaluating these immune effectors may help in comprehending the pathophysiology of scabies and facilitate the development of new treatment approaches. This study examined the expression of IL-17A and FoxP3+ in the skin and serum of 50 scabies patients and 25 healthy controls. An assessment of their correlation with clinical features was performed. Regarding tissue response, scabietic patients exhibited a significant increase in IL-17A and FoxP3+ expression in their epidermis and dermis compared to controls (P<0.001), but the correlation between these factors was not significant in either area (P>0.05). Also, patients showed a significant increase in serum IL-17A levels compared to controls (P<0.001), with a significant association between serum IL-17A levels and lesion severity, but no significant correlation was observed between skin and serum responses (P>0.05). In conclusion, there was increased expression of both IL-17A and FoxP3+, with FoxP3+ being significantly more abundant than IL-17A in the skin of scabies patients. Skin FoxP3+ up-regulation has been linked to the severity of the condition.

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BACKGROUND: Psoriasis is a disease of overactive immune system. OVOL1 and Filaggrin have been associated with many inflammatory skin lesions. To the best of our knowledge, the correlation between OVOL1 and Filaggrin in psoriasis was not previously investigated. This work aims to search the immunohistochemical expression and correlation between OVOL1 and Filaggrin in psoriasis. MATERIALS AND METHODS: Slides cut from paraffin blocks of 30 psoriasis cases and 30 control subjects were stained with OVOL1 and Filaggrin. Clinicopathological data were correlated with the results of staining. RESULTS: OVOL1 and Filaggrin expression in epidermis showed a significant gradual reduction from normal skin to peri-lesional and psoriasis biopsies (P < 0.001). In contrast, psoriasis dermis showed a significant overexpression of OVOL1 in inflammatory cells in relation to peri-lesional biopsies (P < 0.002). OVOL1 demonstrated a significant direct correlation with Filaggrin expression in psoriasis (r = 0.568, P < 0.004). OVOL1 and Filaggrin expression in psoriasis skin epidermis demonstrated a statistically significant negative correlation with PASI score. CONCLUSION: OVOL1 and Filaggrin might be involved in psoriasis-associated inflammation and skin hyperproliferation. OVOL1 might have a protective barrier function in the skin and could be used to stratify progressive disease. Filaggrin may play a role in progression of psoriasis. OVOL1 inhibition could be considered in suppression of Filaggrin function. OVOL1 agonists may be beneficial in psoriasis treatment.

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BACKGROUND: Psoriasis is an immune-mediated inflammatory skin disorder with a multifaceted pathogenesis. Immune dysregulation and immune cell dysfunction are among the mechanisms involved. TEA domain family member 4 (TEAD4) is suggested to play a role in psoriasis development. TEAD4 expression in keratinocytes may have a chemotactic effect and could disturb the function of FOXP3-positive T lymphocytes. This study aimed to evaluate the expressions of TEAD4 and FOXP3 in lesional, nonlesional psoriatic, and healthy skin and assess the clinical impact of their expression. METHODS: This case-control study included 32 cases with psoriasis vulgaris and 32 control groups. Hematoxylin and eosin-stained slides were examined to evaluate the histopathological findings. Moreover, other sections were immunohistochemically stained with FOXP3 and TEAD4. RESULTS: FOXP3 was expressed in inflammatory cells in 56.5, 37.5, and 12.5% of lesional, nonlesional, and healthy skin, whereas it was entirely negative in the keratinocytes. TEAD4 was expressed in keratinocytes in 93.7 and 46.9% of lesional and nonlesional skin, while negative in healthy skin. Significant differences were observed between their lesional, nonlesional, and healthy skin expressions. Furthermore, FOXP3 expression in lesional skin was significantly associated with early onset (P = 0.016), low PASI score (P = 0.002), mild psoriasis (P = 0.007), and axial affection (P = 0.022), while TEAD4 expression was associated with progressive course (P = 0.032), high PASI score (P = 0.002), severe psoriasis (P = 0.001), severe inflammation (P = 0.001), and progressive course (P = 0.017). CONCLUSION: TEAD4 expression was higher in lesional than nonlesional skin and absent in healthy skin, suggesting a role in psoriasis development. TEAD4 expression was also associated with severe and progressive psoriasis. This may be mediated by the downregulation of FOXP3 and dysfunction of Treg cells. TEAD4 could serve as a promising therapeutic target in psoriasis.

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Alopecia areata (AA) is a disorder with several etiologies. The evidence suggests that the absolute copy number of mitochondrial deoxyribonucleic acid (mtDNA), as well as proportion of mutated mtDNA copies, determines disease onset. This study aims to quantify the relative index of the mtDNA copy number in patients with AA and healthy controls and correlate the results with the existing clinical information. This case-control study included 50 patients with AA and 50 age- and sex-coordinated healthy persons as controls. The severity of AA was weighed using the Severity of Alopecia Tool and Kavak's classification. The relative index of the mtDNA copy number was measured by real-time qPCR. Significant statistical difference was observed between cases and controls regarding mean mtDNA copy number, p < .001. There was significant positive correlation with SALT score (p = â€…0.001). A cutoff value of >1.619 N/µL could significantly diagnose AA cases (p < .001), and a cutoff value of > 1.36 N/µL could discriminate mild AA cases from those with moderate AA (p = â€…0.007). The relative index of mtDNA copy number is significantly elevated in AA cases and could be helpful in diagnosing and evaluating AA severity.

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Psoriasis is a chronic immune-mediated inflammatory disease, affecting about 2 to 3% of the population worldwide. Nucleotide-binding and oligomerization domain 2-like receptor has been implicated in the pathogenesis of different inflammatory diseases. The current work aims to investigate the expression of nucleotide-binding and oligomerization domain 2-like receptor in psoriatic skin through an immunohistochemical study. This cross-sectional case-control study included 20 patients with chronic plaque psoriasis and 20 age- and sex-matched normal subjects as controls. Psoriasis severity was assessed through the use of Psoriasis Area Severity Index (PASI) score. Skin biopsies were taken under local anesthesia from cases and from matched sites of controls. Expression of nucleotide-binding and oligomerization domain 2 in epidermis of studied cases and controls showed positive epidermal expression of nucleotide-binding and oligomerization domain 2 in all cases (100%) versus 6 (30%) controls with a significant increase (χ2 = 21.54, P˂0.001). Moreover, dermal expression of nucleotide-binding and oligomerization domain 2 was higher in psoriatic skin lesion (95%) compared to controls (15%) with a significant difference (χ2 = 25.86, P˂0.001). We concluded that nucleotide-binding and oligomerization domain 2 may be implicated in psoriasis pathogenesis being higher in cases in comparison to controls.

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BACKGROUND: Psoriasis is an immune-related disease with dermal inflammation and epidermal hyperplasia. Cornulin has a significant role in keratinocyte proliferation and stimulates inflammation in psoriasis. AIM OF THE WORK: This work aims to evaluate Cornulin expression values in lesional and perilesional psoriatic skin compared with the control group's skin through immunohistochemistry. METHODS: This case-control study included 30 cases with plaque psoriasis and another 30 as controls. Patient samples were collected, and immunohistochemical staining of Cornulin was conducted. RESULTS: In the epidermis, there was a stepwise pattern of significant Cornulin overexpression in keratinocytes starting from controls (34.00 ± 23.65) to lesional (62.59 ± 23.93) passing through perilesional skin (36.52 ± 18.49) (p < 0.001). Moreover, there was also a stepwise pattern of the significance of Cornulin starting from 4 in controls (13.3% for both) to 28 lesional cases (93.3%) and 18 (60.0%) passing through 17 perilesional skin cases (56.7%) and 5 (16.7%) (p < 0.001 for both) for inflammatory cells and adnexa, respectively. A significant relationship between lesional epidermal Cornulin's strong intensity and a higher H-score and both hyperkeratosis and parakeratosis was found (p = 0.008 for both intensity and 0.028 for both H-scores). CONCLUSION: Cornulin might be implicated in keratinocyte hyperproliferation and inflammation in plaque psoriasis and may be valuable as therapeutic target.

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BACKGROUND: Psoriasis is a chronic, immune-related disorder; inflammation, higher rate of epidermal proliferation, and angiogenesis are the main pathognomonic features. Cluster of differentiation 93 (CD93), an angiogenic element, plays a role in cell adhesion regulation and has a putative function in inflammation. OBJECTIVE: To assess CD93 immunohistochemical expression in psoriatic skin and the association of CD93 single nucleotide polymorphisms (SNPs) rs2749817 to disease pathogenesis and severity. METHODS: This case-control study was done on 50 patients with psoriasis vulgaris beside 50 age- and sex-matched healthy controls. Assessment of psoriasis severity was done by Psoriasis Area and Severity Index (PASI) score. 3 mm punch skin biopsies were taken from every participant, and hematoxylin and eosin staining and immunohistochemical staining for CD93 antibody were done. Assessment of CD93 rs2749817 gene polymorphism by the TaqMan allelic discrimination assay technique (real-time PCR) was done. RESULTS: Immunohistochemical expression of CD93 showed membrano-cytoplasmic localization in both endothelial and inflammatory cells of cases and controls with significant more positivity in dermal endothelial and inflammatory cells of cases than controls (p = 0.001 and 0.014 respectively). Strong intensity was present in 18 of cases endothelial cells and 24 inflammatory cells with absence in controls (p =  0.001 for both) with significantly higher H-score and higher percent of positive cells (p  =  0.001 for both). The TC genotype was lower in patients compared to control (p-value = 0.006) and CC genotype which was present only in cases (p-value = 0.021). CONCLUSION: Cluster of differentiation 93 has an essential role in psoriasis and an encouraging future therapy for psoriasis.

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BACKGROUND: Psoriasis is a long-lasting, inflammatory disease of the skin with not fully understood pathogenesis. Uncoupling protein 2 (UCP2) and dynamin-related protein 1 (Drp1) are the main mitochondrial regulatory proteins implicated in various inflammatory conditions. This work aimed to evaluate the role of UCP2 and Drp1 messenger RNA (mRNA) expressions in diagnosing plaque psoriasis and to correlate their expression levels with the available clinical data. METHODS: Total number of 210 subjects (105 plaque psoriasis patients and 105 healthy volunteers) was enrolled in the current study. Plasma UCP2 and Drp1 mRNA relative expressions were studied by real-time polymerase chain reaction technique. RESULTS: A significant statistical decrease in the expression levels of the mitochondrial regulatory proteins UCP2 and Drp1 mRNA in plasma of patient group in comparison to control subjects (P < 0.001). UCP2 mRNA expression was significantly correlated with the onset of disease and scalp affection (P < 0.05). The receiver operating characteristic (ROC) curve was the test used for verification of the accuracy of UCP2 and Drp1 mRNA expressions in identifying cases from healthy control subjects; UCP2 mRNA expression had a greater percent of accuracy (94%), sensitivity (97%), and specificity (87%) than Drp1 mRNA expression. CONCLUSIONS: Although UCP2 and Drp1 mRNA are downregulated in plasma of psoriatic patients, UCP2 could serve better as a promising marker for plaque psoriasis. Despite developments in the treatment of psoriasis, these results provide new insights in disease pathogenesis suggesting UCP2 may be a good target for treatment.

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BACKGROUND: The current therapies for vitiligo require long duration with often disappointing outcomes. 5-Fluorouracil (5-FU) is a chemotherapeutic agent approved for topical use in the treatment of several dermatologic conditions. Matrix metalloproteinase 2 (MMP2) is synthesized by keratinocytes during the epidermal remodeling process and has been found to help in melanocyte migration. AIM: To investigate the efficacy and safety of flexible microneedling followed by application of 5-FU in vitiligo treatment and to evaluate the immunohistochemical expression of MMP2 in involved skin in vitiligo patients before and after treatment. METHODS: Twenty patients presented with vitiligo were planned to receive one session every 2 weeks for 12 weeks of microneedling followed by 5-FU application. Clinical response to therapy was evaluated by VASI score. Pre- and post-treatment biopsies were taken from vitiliginous patches for MMP2 immunostaining. RESULTS: Fifteen patients (75%) responded to therapy with observed side effects such as pain, erythema, and hyperpigmentation of margins. The clinical response was more in young patients and those who have short disease duration. MMP2 was significantly increased in post-treatment biopsy compared with the pretreatment one. CONCLUSIONS: 5-Fluorouracil application after microneedling is effective in the treatment of vitiligo with 75% response, 60% patient satisfaction, and tolerable side effects. The improvement in vitiligo patients by microneedling and 5-fluorouracil could be due to upregulation of MMP2 in affected vitiligo specimens.

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BACKGROUND: Psoriasis is a complex autoimmune multifactorial disease induced by interaction of environmental and genetic factors. This research aimed to clarify the association of NLRP3 (rs10754558) and PTPN22 (1858C/T) (rs2476601) polymorphisms with susceptibility to psoriasis. METHODS: This case-control study involved 150 patients diagnosed with psoriasis and 100 age- and gender-matched apparently healthy individuals. NLRP3 (rs10754558) polymorphism was done by real time PCR and PTPN22 1858C/T (rs2476601) genotype was identified by tetra-primer amplification refractory mutation system-polymerase chain reaction (PCR) method. RESULTS: The genotypes distribution of NLRP3 (rs10754558) were significantly associated with psoriasis (p<0.0001). Whereas for PTPN22 (1858C/T) (rs2476601), no significance was found (p=0.09). NLRP3 (rs10754558) GC genotype revealed a significant association with psoriasis (p<0.0001), mainly among male (p=0.004) patients with mild psoriasis (p=0.001) and affected extremities (p=0.0001). CONCLUSION: We can conclude that the NLRP3 (rs10754558) GC genotype may play a role in psoriasis susceptibility among male Egyptian populations with affected extremities. Future studies must evaluate its role in the prevention or the treatment of psoriasis.

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BACKGROUND: Melasma is a chronic hypermelanotic disorder that is challenging to treat; no single effective therapeutic agent for it has been discovered. Methimazole, an oral antithyroid drug, has a skin depigmenting effect when used topically. OBJECTIVE: We sought to evaluate the efficacy and safety of methimazole, applied during microneedling sessions and additional topical use in between sessions, for the treatment of melasma. METHODS: This split-face study included 30 Egyptian patients with melasma, each of whom received 12 microneedling sessions once per week for 12 weeks followed by topical methimazole on the right side of face and placebo on the left side. In between the sessions, topical methimazole 5% cream was applied twice per day on the right side and placebo on the left side. Assessments were performed using the Hemi-melasma Area and Severity Index (hemi-MASI) percentage of improvement, patient satisfaction, dermoscopy, and thyroid-stimulating hormone (TSH) serum levels. RESULTS: There were significant clinical and dermoscopic improvements; hemi-MASI scores on the methimazole-treated right sides were decreased (p<0.001). The percent of hemi-MASI score improvement was significantly associated with the malar pattern (p=0.031) and epidermal type (p=0.04) of melasma. About 70 percent of our studied patients reported being satisfied with their treatment response (7% excellent, 33% good, 30% fair). No significant local or systemic side effects were observed. Pre- and posttreatment serum TSH levels were within the normal range in all treated cases. CONCLUSIONS: Methimazole has the potential to be a safe and promising therapeutic agent for the treatment of melasma via dermapen-delivered microneedling sessions with topical use in between sessions.

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BACKGROUND: Acne vulgaris is a disease that inflames the sebaceous gland with multiple etiologies. Many proinflammatory adipokines contribute to this pathogenesis. Resistin is a proinflammatory mediator that activates kappa B, a nuclear factor, and c-Jun N-terminal kinases pathways inducing toll-like receptor-2, interleukin-1, 6, and tumor necrosis factor alpha. Resistin gene affects the promoter and intron regions' polymorphisms' expression levels. We aimed to study the association of resistin gene polymorphisms (RETN -420 C/G) and the development of acne vulgaris and whether it is associated with serum resistin levels and disease severity. SUBJECTS AND METHODS: Resistin (RETN) gene (rs1862513) genotypes were identified using restriction fragment length polymorphism (RFLP), and serum resistin presence was assessed by enzyme-linked immunosorbent assay in 40 patients with acne vulgaris and 40 age- and sex-matched healthy controls as a cross-reference. Patients were divided into mild, moderate, and severe groups. Global Acne Grading System (GAGS) was used to assess the severity of acne vulgaris. RESULTS: CG and GG genotypes were present in cases (P = 0.006) odds ratio (OR)1 = 4.43; 95% confidence interval (CI) (1.53, 12.7) and OR2 = 5.47; 95% CI (0.99, 30.1); G-allele statistically dominated in the patient group where P = 0.001 and OR = 3.57; 95% CI (1.63, 7.80). A positive significant relationship between RETN genotypes and serum resistin levels and GAGS score was present. CONCLUSION: RETN genes rs1862513 GG and G allele are correlated to acne vulgaris development and severity in a sample of the Egyptian population. This study comprised a small sample size. The cases may not accurately represent the general population; only one clinic was enrolled in the study.

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Psoriasis is a chronic immune-mediated inflammatory skin disease, affects about 2% to 3% of the world population. Valosin-containing protein (VCP) is one of the newly discovered markers that is highly expressed in neoplasms and hyperproliferative lesions. This work aimed to study the role of VCP in psoriasis vulgaris by immunohistochemical study and correlate its expression with the available clinicopathologic data. This prospective case-control study was conducted on 25 patients with psoriasis vulgaris and 25 age-matched and sex-matched healthy individuals as a control group. Skin biopsies were taken under local anesthesia from cases and controls. VCP immunoreactivity showed that epidermal VCP expression had a significant stepwise increase (P=0.002) from control to lesional psoriatic sections. Epidermal VCP H-score was significantly associated with the progressive course (P=0.037). Similarly, VCP in the dermis showed a significant expression in lesional psoriatic skin (P≤0.001). Higher VCP in the dermis in cases with a history of joint affection (P<0.05) was detected. We concluded that VCP is a promising marker for follow-up and monitoring of psoriatic patients and may play a role as a therapeutic target.

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Transient Receptor Potential Channel of Melastatin number 8 (TRPM8) is abnormally expressed in many cancers as lung, however little is known about TRPM8 expression in non-melanoma skin cancer (NMSC) including cutaneous squamous cell carcinoma (SCC) and basal cell carcinoma (BCC). This work aimed to study TRPM8 expression in NMSC. It included 100 skin biopsies (50 normal skin as control group, 15 BCC and 35 SCC). Immunohistochemical staining for TRPM8 was done and results were correlated with clinicopathological characters. There was significant higher TRPM8 H-score in NMSC than control skin. On comparing SCC cases to control, there was significant positive TRPM8 expression, strong intensity, diffuse pattern, cytoplasmic and nucleo-cytoplasmic localization and higher range of H-score in SCC. In contrast, BCC showed significant lower TRPM8 positive expression when compared to control skin. Higher TRPM8 H-score in SCC showed significant positive correlation with large tumor size and poor tumor differentiation.TRPM8 may be implicated in pathogenesis of NMSC. Its association with bad prognostic characters; potentiates its role as prognostic biomarker and open new chances for therapeutic intervention in NMSC. TRPM8 antagonists may share in decreasing tumor growth and progression and may serve as potential target for tumor immunotherapy.

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BACKGROUND: The current study aims at evaluating the role of circulating or cell-free long noncoding ribonucleic acid (lncRNA) growth arrest-specific 5 (GAS5) in plaque psoriasis and at investigating its relationship with the presented clinical data. METHODS: This case-control study was conducted on 180 subjects, divided into two main categories as follows: 90 cases with plaque psoriasis and 90 age- and sex-matched healthy controls. Full history taking, thorough general examination, and full dermatological examination with determination of number and site of lesions were performed. Disease severity was assessed by Psoriasis Area Severity Index (PASI) score. Relative quantification of the expression level of cell-free lncRNA (GAS5) was performed using real-time polymerase chain reaction (RT-PCR) technique. RESULTS: There was significant increase of GAS5 expression level in cases when compared with controls (U = 719.0, P < 0.001). Indeed, there was significant positive correlation between GAS5 and PASI score (r = 0.0.668, P < 0.001). Receiver operating characteristic (ROC) curve showed that GAS5 could identify patients from controls: GAS5 at a cut-off value ≥0.31 provides a sensitivity of 95.56% and a specificity of 82.22%; at a cut-off value ≥0.75, it can differentiate between mild and moderate cases, at a sensitivity of 77.78% and a specificity of 91.43%; at a cut-off value ≥1.61, it can discriminate between moderate and severe cases, with a sensitivity of 71.43% and a specificity of 74.07%. CONCLUSION: lncRNA GAS5 expression could be considered as a diagnostic marker of plaque psoriasis and indicator of its severity.

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BACKGROUND: Psoriasis is considered as an immune-mediated disorder with significant epidermal hyperplasia and inflammation. Cysteine-rich angiogenic inducer 61 (CYR61), known as CCN family member 1 (CCN1), plays an important role in cell proliferation and neovascularization which may trigger psoriasis development. AIMS: This study aimed to assess the immunostaining of CYR61 in psoriatic skin (lesional and perilesional) compared to control skin. PATIENTS/METHODS: This is a case-control study. The Psoriasis Area and Severity Index (PASI) was used to evaluate disease severity. A punch biopsy was taken from psoriatic skin lesions (30), perilesional (30) skin, and matched site of controls (20). The pathological and immunostaining assessments of CYR61 were conducted. RESULTS: There was a significant gradual progressive overexpression of CYR61 in keratinocytes from control skin to perilesional and lesional psoriatic skin (P = .00). Moreover, lesional psoriatic skin showed overexpression of CYR61 in inflammatory cells in the dermis than controls. CYR61 expression (lesional epidermis) revealed a significant positive correlation with the PASI score (r = .63; P = .00). There was a significant relationship between intensity and H-core of CYR61 in the lesional psoriatic epidermis with joint affection. CONCLUSION: CYR61 may trigger epidermal hyperplasia and potentiate inflammatory infiltration in psoriasis vulgaris patients, and therapies targeting CYR61 may be effective in the management of psoriasis vulgaris.

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BACKGROUND/OBJECTIVES: CD4+  T helper (Th) cells through its pro-inflammatory cell type, interleukin-17 (IL-17)-generating cells and its anti-inflammatory category forkhead box P3-positive (FOXP3+ ) regulatory T (Treg) cells, play a vital role in the immune balance in inflammatory disorders. Therefore, assessment of both IL-17 and FOXP3 in acne vulgaris (AV), a chronic inflammatory disease of the pilosebaceous unit, could be of value in understanding AV pathogenesis. This study aimed to investigate the immunohistochemical expression of IL-17A and FOXP3 in acne vulgaris lesions versus normal skin. METHODS: Forty-five AV patients and 25 controls were included in this case-control study. Biopsies from participants were analyzed for IL-17A and FOXP3 immunohistochemical profiles using IL-17A and FOXP3 polyclonal antibodies. RESULTS: Compared to controls, AV patients exhibited a significant increase of IL-17A percent of expression in epidermis (P ≤ .001), in lymphocytes in papillary dermis (P ≤ .001), and in perifollicular lymphocytic inflammatory infiltrate in AV lesions. Also, there was a significant elevation in FOXP3 percent of expression in epidermis (P = .049) and in lymphocytes in papillary dermis (P ≤ .027) in acne patients than control. A significant positive correlation between IL-17A expression in papillary lymphocytes and in epidermal keratinocyte was observed (r = .537, P = .001). In acne vulgaris patients, the associations between IL-17A and FOXP3 expressions could not reach level of significance. CONCLUSIONS: There was an up-regulation of IL-17A and FOXP3 in acne vulgaris development, but with independent roles. Moreover, targeting of IL-17A and FOXP3 may open the door for development of new therapeutic agents in acne vulgaris treatment.

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BACKGROUND: Vitiligo is an acquired depigmentation of the skin and the mucous membranes, exhibited as white macules and patches due to selective loss of melanocytes. Etiological theories of vitiligo include genetic, immunological, neurohormonal, cytotoxic, biochemical, oxidative stress, and newer theories of melanocytorrhagy and diminished melanocytes survival. It has been revealed that liver X receptor alpha gene is expressed in skin tissue such as sebaceous glands, hair follicle, keratinocytes, and fibroblasts and is linked to various skin disorders as acne vulgaris and psoriasis. AIM OF THE STUDY: To evaluate the association between liver X receptor-α gene polymorphism (rs11039155 and rs2279238) and vitiligo and whether they are related to disease activity and severity or not. SUBJECTS AND METHODS: 50 vitiligo patients and 20 age- and sex-matched apparently healthy controls were enrolled. All the included subjects were genotyped using polymerase chain reaction-restriction fragment length polymorphism analysis technique for (-6G/A) and (+1257C/T) SNPs. RESULTS: Significant statistical difference between cases and controls regarding genotype and allele frequencies for -6G/A polymorphism with predominance of AA genotype (OR: 5.1, 95% CI: 1.6-15.9) and A allele (OR: 5.3, 95% CI: 1.6-15.9) in cases and also for +1257C/T polymorphism with predominance of TT genotype OR: 9.2 (95% CI: 1.4-82.9) and T allele OR: 3.4 (95% CI: 1.4-8.1) in vitiligo cases. No significant relationship between -6G/A genotypes nor +1257C/T genotypes and disease activity and severity. CONCLUSION: The study showed significant association between Liver X receptor gene polymorphisms (-6G/A, +1257 C/T) and development of vitiligo in Egyptian patients. However, it failed to show any relation with disease activity nor severity.

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Constitutional delay of growth and puberty (CDGP) is a variant of normal pubertal timing and progress. It is the most common form of delayed puberty in both genders. The genetic director of CDGP is ill-understood despite the positive family history result noted in those patients. The current study aimed at assessing the role of estrogen receptor 1 (ESR1) gene variant (rs827421) in Egyptian adolescents with CDGP. A cross-sectional study with follow-up part was carried out on 6760 children aged 4 to15 years. The study focused generally on children aged 13-15 years in order to evaluate the prevalence of delayed puberty in relation to all ages in general and to their peers in specific. Assessment of serum TSH, FSH, and LH was conducted on all participants, along with the measurement of serum-free testosterone for males and estradiol for females. Genotyping of ESR1 (rs827421) was done to all subjects through the use of TaqMan discrimination assay by real-time PCR. ESR1 (rs827421) GG genotype and G allele were significantly dominant among CDGP adolescents in comparison with controls (OR = 25.67 and 6.90). As regards follow-up of testicular size, AA genotype was significantly associated with increased size in the right and left testis compared to other genotypes (P = 0.021 and 0.006, respectively). Moreover, AA genotype showed significantly higher Tanner stage in both males and females in comparison with other genotypes. Serum estradiol level was significantly higher in AA genotype group than other genotypes groups. ESR1 gene polymorphism can be considered a potential genetic marker for CDGP in both sexes in a sample of Egyptian adolescents.

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