Clinical effects of 532 nm picosecond and nanosecond Nd∶YAG laser in treatment of early seborrheic keratosis / 中华医学美学美容杂志

Objective:To compare the efficacy and adverse reactions of picosecond and nanosecond Nd∶YAG laser 532 nm in the treatment of seborrheic keratosis.Methods:A total of 30 patients with seborrheic keratosis were enrolled in this study. The rash size was more than 1-2 cm. Half of them were treated with picosecond laser and the other half with nanosecond Q-switched Nd∶YAG laser by wavelength of 532 nm. The treatment effect and adverse reactions were evaluated by observing the area and the disappearance of pigment. The patients were followed up for 3 months after treatment.Results:The total effective rate was 73.33% in the experimental group and 53.33% in the control group, with no significant difference between the two groups ( P>0.05), but the pain score, satisfactory score, scab shedding time and the incidence of pigmentation in the experimental group were lower than those in the control group, and the differences were statistically significant ( P<0.05). Conclusions:The 532 nm picosecond laser has a higher efficiency in treating seborrheic keratosis than 532 nm Q-switched Nd∶YAG, but it has no statistical significance. However, the self satisfaction is higher than that of the control group; the pain score, scab shedding time and the incidence of pigmentation are lower than those of the control group, with statistical significance. Therefore, picosecond 532 nm laser treatment of early seborrheic keratosis is worthy of clinical promotion.

Mutation analysis in 5 families with mild phenotypes of neurofibromatosis type 1 / 中华皮肤科杂志

Objective:To detect gene mutations in patients with mild phenotypes of neurofibromatosis type 1 (NF1) .Methods:From June 2017 to June 2020, 5 probands with mild phenotypes of NF1 only involving the skin and their family members were collected from Department of Dermatology, Fengxian Institute of Dermatosis Prevention and Treatment in Shanghai. Pedigree investigation was performed to evaluate the clinical phenotypes of NF1. The second-generation targeted gene sequencing combined with Sanger sequencing was performed to detect and verify pathogenic mutations.Results:All the 5 probands presented with only skin lesions, including café-au-lait spots, freckles, neurofibromas, but no other systemic involvement. A total of 5 mutations were identified in different exons of the NF1 gene in the 5 families, including 1 large-fragment deletion mutation (hg38: chr17:31327199-31335928 del 8 730 bp) , 1 splicing mutation (C.7970+1G>T) , 1 insertion mutation (C.3011_3012insTATG, p.N1004fs*) , 1 deletion mutation (C.1754_1757delTAAC, p.T586Vfs*18) , and 1 nonsense mutation (c.C503G, p.S168X) , and the first 3 above mentioned mutations were previously unreported novel mutations.Conclusion:Five mutations were identified in the 5 families with mild phenotypes of NF1, including 3 novel mutations, which expand the mutational spectrum of NF1.

Advance in research on causative genes of xeroderma pigmentosum and related diseases / 中华医学遗传学杂志

Ultraviolet light(UV)-sensitive disorders refer to a group of diseases due to damages to the nucleotide excision repair mechanism which cannot effectively repair DNA damage caused by ultraviolet radiation. The inheritance pattern of such diseases, mainly including xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy, is autosomal recessive and known to involve 13 genes. As proteins encoded by such genes are involved in DNA repair and transcription pathways. There is overlap between the symptoms of such diseases, and their genotype - phenotype correlations are quite complex. To facilitate genetic and prenatal diagnosis for such diseases, a summary of the research progress is provided, which mainly focused on mutation research and genotype - phenotype correlation studies. We also propose a strategy for their genetic diagnosis based on recent findings of our group.

Genetic diagnosis of sporadic neurofibromatosis type 1 with café-au-lait spots as the only presentation in a child / 中华皮肤科杂志

Objective To make a genetic diagnosis of sporadic neurofibromatosis type 1 with café-au-lait spots as the only presentation in a child.Methods Blood samples were collected from an 8-year-old child patient,his parents,and 100 healthy human controls.The mutation of NF1 gene was detected by PCR and direct sequencing.Results No mutation was detected in the NF1 gene of the parents or the healthy controls.There was a de novo nonsense mutation c.3520C ＞ T (p.Q1174X) in the NF1 gene of the patient,which leaded to a premature termination codon.Conclusions The child with café-au-lait spots as the only manifestation is diagnosed with sporadic neurofibromatosis type 1 by genetic testing.The mutation c.3520C ＞ T (p.Q1174X) may be an underlying cause of neurofibromatosis type 1.