Objectives To analyze the clinical features and gene types of Apert syndrome (AS). Methods The clinical data of one boy with AS were retrospectively revisited and FGFR 2 of the boy and his father were analyzed with PCR amplification and gene sequencing. The relevant literatures were reviewed. Results The boy was one year and one month old, with brachycephaly, exophthalmos, hypertelorism, low set ears, micrognathia, high-vaulted arch, without cleft palate, and with syndactyly of both ifngersⅠ-Ⅴ and toesⅠ-Ⅴ. A heterozygous mutation (c. 758 C?>?G,p.P 253 R) in exon 7 of FGFR 2 was detected in the boy, supporting the diagnosis of AS. The relevant gene mutation was not detected in his father. Among the 24 cases of AS retrieved from literature, 22 cases were with obvious craniofacial malformations, one with mild craniofacial malformations and one without craniofacial malformations. All cases were with syndactyly of both ifngers and toes. Thirteen cases of FGFR 2 were with S 252 W mutation, 3 cases with P 253 R , 3 cases with Alu insertion, one with 1 . 93-kb deletion, removing exon IIIc and substantial portions of the lfanking introns, one case with a heterozygous 1372 bp deletion between FGFR 2 exons IIIb and IIIc, 2 cases with (c.756_758delGCCinsCTT) in the IgIIe-IgIIIa linker region and one case with sequence variant T78.501A in intron 8. Conclusions Apert syndrome present with craniofacial malformations and syndactyly of hands and feet, S 252 W and P 253 R are main mutations of AS.

Objective To observe the clinical efficacy and safety of external application of Piyan Formula in treating epidermal growth factor receptor tyrosine kinase inhibitor(EGFR-TKIs)-related rashes.Methods Sixty cases of EGFR-TKIs-related rash patients were randomly allocated into either a treatment group or a control group.The treatment group received external application of Piyan Formula to the rash area twice daily for 14 days.The control group received external application of fucidic acid cream to the rash area twice daily for 14 days.Changes in rash grading,itching grading,quality of life scores and adverse event were observed and recorded in both groups.At the same time,levels of hypersensitive C-reactive protein,interleukin(IL)-6,and IL-1β were measured before treatment and 24 hours after treatment.Results After treatment,the rash severity,itching severity,and quality of life scores were notably lower in the treatment group compared to the control group(P<0.05).The levels of hypersensitive C-reactive protein,IL-6,and IL-1β exhibited a significant decrease compared to their pre-treatment values.(P<0.05).Compared with the control group,the levels of hypersensitive C-reactive protein,IL-6,and IL-1β decreased in the treatment group,with statistically significant differences(P<0.05).No adverse events related to Piyan Formula or fucidic acid cream occurred during the treatment process.Conclusion External application of Piyan Formula in treating EGFR-TKIs-related rashes shows significant clinical efficacy,can effectively reduce the levels of inflammatory factors,and has high safety,thus warranting clinical promotion.