Evaluation of Subcision for the Correction of the Prominent Nasolabial Folds

Background. A prominent nasolabial fold (NLF) is a cosmetic problem. Currently, numerous therapeutic modalities are available for pronounced NLFs with variable efficacy. Objective. To determine the efficacy and safety of subcision using a hypodermic needle for the correction of the prominent NLFs and its effect on skin elasticity. Methods. Sixteen patients with prominent NLFs underwent subcision. The investigators’ assessment of improvement and the patients’ satisfaction were both recorded 1 and 6 months after the procedure. Also, we evaluate the skin elasticity of NLFs before and after the treatment using a sensitive biometrologic device with the measurement of cutaneous resonance running time (CRRT). Results. Thirteen (81.25%) patients showed a moderate improvement at 1st month and 13 (81.25%) patients had at least a mild improvement at 6th month. There was no persistent side effect lasting more than a few days. Mean CRRT at 1 and 6 months after the treatment was significantly higher compared to the baseline. Conclusion. Subcision may be considered effective for the correction of pronounced NLFs. However, further controlled studies with larger sample size are necessary to assess the efficacy of this technique in particular with use of more objective assessment of skin biometric characteristics. This trial is registered with IRCT201108097270N1 (registered on January 27, 2012)

Efficacy and safety of non-thermal nitrogen plasma versus long-pulsed Nd:YAG laser for hand rejuvenation

This randomized controlled study aimed to investigate the efficacy and safety of multiple treatment sessions of pulsed non-thermal atmospheric pressure nitrogen plasma compared with long-pulsed Nd:YAG laser for hand rejuvenation. To optimize the nitrogen plasma mode for rejuvenation, the relative intensity of reactive species and skin temperature was compared at different input powers and time periods. Twenty-five patients with mild-moderate photodamaged skin were recruited; one hand was randomly selected for eight weekly treatment sessions with plasma (two passes), while the other was subjected to three monthly treatments with laser (until erythema became obvious). A blinded dermatologist scored the mean wrinkle and dyschromia improvement at 1 and 2 months after the first treatment and 1 and 3 months after the last treatment. The patients� satisfaction and the biomechanical characteristics of the skin including cutaneous resonance running time (CRRT), melanin, transepidermal water loss (TEWL), and hydration were evaluated. Clinically, both methods gave rise to a similar, significant improvement in wrinkles (49.09 ± 19.18 and 39.32 ± 18.21 after plasma and laser, respectively) and dyschromia (45.00 ± 26.32 and 30.62 ± 24.99 after plasma and laser, respectively) (P < 0.05). A significant decrease in CRRT and melanin was seen following treatment with either method (P < 0.05). Notably, plasma therapy led to a significant decrease in TEWL and boosted skin hydration. This is while laser therapy augmented the TEWL and reduced skin hydration. Our findings corroborate that cold plasma is as effective and safe as long-pulsed Nd:YAG laser, with less discomfort and dryness during treatment. The protocol was approved by the Iranian Registry of Clinical Trials. IRCT20160320027109N4. Registered 9 April 2019 (This manuscript is only a part of this registered project.). © 2021, Springer-Verlag London Ltd., part of Springer Nature

Ichthyosis follicularis syndromes in patients with mutations in GJB2

Ichthyosis follicularis (IF) manifests as generalized spiny follicular projections found in syndromic diseases secondary to SREBF1 and MBTPS2 mutations. We sought the genetic cause of IF in two distinct families from a cohort of 180 patients with ichthyosis. In Family 1, the proband (Patient 1) presented with IF, bilateral sensorineural hearing loss and punctate palmoplantar keratoderma. Using DNA from peripheral blood lymphocytes, two compound heterozygous mutations, c.526A>G and c.35delG, were discovered in GJB2. In Family 2, the proband (Patient 2) presented with a previously unreported IF phenotype in the context of keratitis�ichthyosis�deafness syndrome, and whole-exome sequencing found a de novo heterozygous mutation, c.148G>A in GJB2. Histopathology was consistent with porokeratotic eccrine ostial and dermal duct naevus (PEODDN) and IF in Patients 1 and 2, respectively. Our findings add to the clinical and histopathological spectrum of IF and emphasize the association of PEODDN-like entities with GJB2 variants. © 2022 British Association of Dermatologists

Whole-Transcriptome Analysis by RNA Sequencing for Genetic Diagnosis of Mendelian Skin Disorders in the Context of Consanguinity

BACKGROUND: Among the approximately 8000 Mendelian disorders, &gt;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