The prevalence of oral candidiasis is higher in psoriatic patients and is associated with disease severity. It is not exactly clear whether oral candidiasis can aggravate psoriasis or if psoriasis can predispose patients to oral candidiasis.
Background
Lichen planopilaris (LPP) is a relatively uncommon inflammatory skin condition that causes permanent hair loss. Irreversible hair loss can have a significant psychosocial and psychological impact on patients’ lives. Limited studies have assessed the psychological status of patients suffering from LPP, and to our knowledge, none have evaluated patients with LPP as a separate group in this regard.
Objective
This study aimed to assess the quality of life (QoL) and general health of patients with LPP using the Dermatology Life Quality Index (DLQI) questionnaire and General Health Questionnaire-28 (GHQ-28), respectively.
Methods
Our study employed a cross-sectional design. In total, 41 patients with LPP attending the follow-up skin clinic at the Razi Hospital in Tehran, Iran were asked to complete the DLQI and GHQ-28. Furthermore, selected demographic information was obtained from patients to evaluate their association with general health and QoL.
Results
Forty-one patients (14 men and 27 women) with a mean age of 44.02 ± 10.8 years completed both questionnaires. QoL was affected moderately to extremely in 70.7% of patients. Also, 26 patients (63.4%) were at risk for psychological disorders. Lower QoL was reported by patients age <45 years (
p
< .05). Both QoL and general health had a negative relation with the disease activity index (
p
< .05), but were not affected by sex, marital status, education level, treatment type, presence of mucous lesions, and disease duration.
Conclusion
LPP significantly affects patients’ QoL and general health. Dermatologists should address these issues in patients with LPP alongside treating physical symptoms.
Background
Port Wine Stain (PWS) is a congenital capillary malformation. Although multiple treatments are required, the gold standard treatment for PWS is Pulsed Dye Laser (PDL). Given its anti‐angiogenic effects, sirolimus can be considered as an adjuvant to PDL in PWS.
Aim
To evaluate the efficacy and safety of topical sirolimus (Rapamycin) 0.2% cream as adjuvant therapy for PDL for PWS.
Methods
In this randomized double‐blind placebo‐controlled trial, 15 patients with PWS were enrolled. Each lesion was divided into upper and lower parts, and each part was assigned randomly to receive PDL (4 sessions, 2 months apart) plus sirolimus vs PDL and placebo. The response was evaluated using colorimetry, investigator global assessment (IGA), and patient global assessment (PGA) every two months for eight continuous months.
Results
According to the colorimetric analysis, medial and lateral sides of the treatment and placebo parts did not differ significantly (both P‐value > .05). However, according to PGA and IGA, there was a significant difference in favor of sirolimus (P‐values = .041 and .039, respectively). Itching and dryness (86.7%), contact dermatitis (20%) were the most common adverse effects in the sirolimus group, while none of them were observed in placebo.
Conclusion
Although the improvement was significant subjectively, topical sirolimus 0.2% as an adjuvant to PDL does not appear to improve PWS erythema using calorimetric assessment.
Background
Among the approximately 8000 Mendelian disorders, >1000 have cutaneous manifestations. In many of these conditions, the underlying mutated genes have been identified by DNA-based techniques which, however, can overlook certain types of mutations, such as exonic-synonymous and deep-intronic sequence variants. Whole-transcriptome sequencing by RNA sequencing (RNA-seq) can identify such mutations and provide information about their consequences .
Methods
We analyzed the whole transcriptome of 40 families with different types of Mendelian skin disorders with extensive genetic heterogeneity. The RNA-seq data were examined for variant detection and prioritization, pathogenicity confirmation, RNA expression profiling, and genome-wide homozygosity mapping in the case of consanguineous families. Among the families examined, RNA-seq was able to provide information complementary to DNA-based analyses for exonic and intronic sequence variants with aberrant splicing. In addition, we tested the possibility of using RNA-seq as the first-tier strategy for unbiased genome-wide mutation screening without information from DNA analysis.
Results
We found pathogenic mutations in 35 families (88%) with RNA-seq in combination with other next-generation sequencing methods, and we successfully prioritized variants and found the culprit genes. In addition, as a novel concept, we propose a pipeline that increases the yield of variant calling from RNA-seq by concurrent use of genome and transcriptome references in parallel.
Conclusions
Our results suggest that “clinical RNA-seq” could serve as a primary approach for mutation detection in inherited diseases, particularly in consanguineous families, provided that tissues and cells expressing the relevant genes are available for analysis.
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