Zillikens, 2013), no associated malignancy was observed. In contrast, in lichen sclerosus, carcinomas of the genitalia and the skin were revealed (Powell and Wojnarowska, 1999). A possible drawback of this study is its reliance on the ICD-10 coding of doctors from different specialities. Although the large majority of autoimmune bullous diseases are diagnosed by dermatologists, coding of these disorders by non-dermatologists might have led to mistakes. On the basis of the coding of pemphigoid gestationis in one man and four female patients older than 50 years, the false-coding rate was estimated to be 4%. The present findings will be relevant for the future care of patients with autoimmune bullous disorders. Regardless of the reason for the higher incidence of cancer in some of these diseases, an increased awareness in combination with regular differential blood counts and inspection of the entire skin, as well as routinely performed gastroand coloscopy in patients with pemphigus vulgaris might be helpful to detect the associated malignancies as early as possible in the majority of patients.

Dystrophic epidermolysis bullosa is a heritable skin disease manifesting with sub-lamina densa blistering, erosions, and chronic ulcers. COL7A1, encoding type VII collagen, has been identified as the candidate gene for dystrophic epidermolysis bullosa. In this study, we have identified COL7A1 mutations in a large multi-ethnic cohort of 152 extended Iranian families with high degree of consanguinity. The patients were diagnosed by clinical manifestations, histopathology, and immunoepitope mapping. Mutation detection consisted of a combination of single nucleotide polymorphism-based whole-genome homozygosity mapping, Sanger sequencing, and gene-targeted next-generation sequencing. A total of 104 distinct mutations in COL7A1 were identified in 149 of 152 families (98%), 56 (53%) of them being previously unreported. Ninety percent of these mutations were homozygous recessive, reflecting consanguinity in these families. Three recurrent mutations were identified in five or more families, and haplotype analysis suggested a founder effect in two of them. In conclusion, COL7A1 harbored mutations in the overwhelming majority of patients with dystrophic epidermolysis bullosa, and most of them in this Iranian cohort were consistent with autosomal recessive inheritance. The mutation profile attests to the impact of consanguinity in these families.

Vitamin D deficiency is common both in patients with pemphigus and in HCs. Patients with more severe disease (higher PAAS) are likely to have lower vitamin D levels.

The authors recommend that complications from treatment with PAAG be studied further before widespread use of this soft tissue filler.

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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Systemic sclerosis (SSc) is a rare systemic autoimmune disease, characterized by progressive cutaneous and internal organ fibrosis. Orofacial manifestations of systemic sclerosis are extremely disabling and treatment options are limited. In this study, we aimed to assess the safety and efficacy of autologous fat grafting in the face of patients with systemic sclerosis. We enrolled 16 SSc patients suffering from facial sclerosis and limited mouth opening capacity. Autologous fat injection ranging from 15 to 40 ml was administered per patient, based on their face morphology. The patients were evaluated at baseline and 3 months after fat injection. Evaluations included mouth opening capacity, mouth handicap in systemic sclerosis (MHISS), Rodnan skin sclerosis score, skin biophysical properties using a sensitive biometrologic device with the assessment of cutaneous resonance running time (CRRT), volumizing and aesthetic effects based on pre- and posttreatment photographs, possible side effects, and global patient satisfaction. Clinical assessment showed autologous fat transfer significantly improved mouth opening capacity and the MHISS and Rodnan score of patients with facial scleroderma (p value <.001). The aesthetic and/or functional results of fat injection were satisfying to about 80% of the patients. The changes in CRRT values were not significant. Our findings support the possible therapeutic role of autologous fat grafting in improving facial scleroderma both in aesthetic and in functional aspects. This trial is registered with IRCT20180209038677N1.

Age as a predictor of sentinel node metastasis among patients with localized melanoma: an inverse correlation of melanoma mortality and incidence of sentinel node metastasis among young and old patients.