Objective:To investigate clinical and genetic characteristics of a family with hereditary hemorrhagic telangiectasia complicated by aortic sinus aneurysm, and to analyze causative genes.Methods:Clinical data and peripheral blood samples were collected from the proband and her relatives, and genomic DNA was extracted. Causative genes were screened by whole-exome sequencing, and then verified by Sanger sequencing.Results:A heterozygous mutation c.137G>A was identified at position 137 in exon 3 of the ACVRL1 gene in the proband, her daughter, grandson and granddaughter, which led to the substitution of cysteine by tyrosine at amino acid position 46 (p.C46Y) . The mutation was not found in any of the other 5 family members without clinical symptoms.Conclusion:A causative mutation c.137G>A (p.C46Y) in the ACVRL1 gene was identified in the family with hereditary hemorrhagic telangiectasia type 2 complicated by aortic sinus aneurysm, which had not been previously reported in Asian populations.

Objective:To investigate clinical efficacy of tunneled subcutaneous pedicle flaps in the repair of ipsilateral nasal alar defects.Methods:A total of 20 patients with nasal alar defects after excision of basal cell carcinoma, which were repaired with ipsilateral tunneled subcutaneous pedicle flaps, were retrospectively collected from January 2018 to January 2020. There were 11 male patients and 9 female patients, with an average age of 60.6 years (range, 48 - 76 years) . According to clinical manifestations, the basal cell carcinoma lesions could be classified into 3 types: nodular-ulcerative type (13 cases) , superficial type (4 cases) and pigmented type (3 cases) , and the skin lesions varied from 0.4 cm × 0.5 cm to 0.9 cm × 1.1 cm in size. All the patients received extended surgical resection of basal cell carcinoma, and nasal alar defects were repaired with tunneled subcutaneous pedicle flaps, with the size of flaps ranging from 0.7 cm × 0.8 cm to 1.2 cm × 1.4 cm.Results:All flaps survived successfully, the nasal alar defects were completely repaired, and all wounds healed primarily. During the postoperative follow-up of 6 - 24 months, neither recurrence of tumors nor obvious scar hyperplasia occurred on the nasal ala, and nasal morphology and appearance were favorable.Conclusion:The tunneled subcutaneous pedicle flap can be used for the repair of ipsilateral nasal alar defects following excision of tumors or other lesions, resulting in favorable therapeutic outcomes and aesthetic appearance.

Objective:To investigate clinical efficacy of nail removal in combination with periungual dermis-fat flap tamponade in the treatment of bilateral severe curved ingrown nails.Methods:A retrospective analysis was conducted on clinical data collected from 7 patients with bilateral severe curved ingrown nails visiting the hospital between January 2018 and January 2020. There were 3 males and 4 females, aged 25-49 years (average: 35 years) . All patients were treated with nail removal in combination with periungual dermis-fat flap tamponade at outpatient clinics.Results:All the 7 patients experienced primary healing of incisions without infections, and achieved pain relief 1-2 weeks after surgery. During the follow-up of 12 to 24 months, new nail plates grew back without curling deformity, no erythematous swelling occurred in the nail grooves, and no recurrence of paronychia was observed. All patients were satisfied with the clinical efficacy.Conclusion:Nail removal in combination with periungual dermis-fat flap tamponade is effective for the treatment of bilateral severe curved ingrown nails.

Objective:To investigate the clinical efficacy of subcutaneous asymmetric tension reduction combined with dermal buried angular mattress suture in surgical treatment of benign pigmented facial lesions in infants and preschoolers.Methods:Totally, 100 infants and preschoolers with pigmented facial lesions were enrolled from the Department of Dermatology, Hanzhong Central Hospital and the Second Affiliated Hospital of Xi′an Jiaotong University from January 2018 to January 2019, and their clinical data were analyzed retrospectively. Among these patients, there were 59 males and 41 females, and their age ranged from 3 months to 5 years, with an average age of 15 months. All patients underwent outpatient surgery under local anesthesia, and sedative drugs were used before operation. The skin lesions were excised once or in stages according to their areas, and incisions were closed by using a subcutaneous asymmetric suture-based tension reduction technique, followed by dermal buried angular mattress sutures. After surgery, medical silicone gels and tension reduction devices were used for 6 months to 1 year, and postoperative follow-up was performed.Results:All patients were followed up for more than 1 year after surgery. Four patients showed suture rejection reaction within two months after surgery, and the incisions completely healed after the suture knots were discharged; cat′s ear-shaped scars were formed at the upper and lower ends of the incisions in 3 cases when the sutures were removed 1 week after surgery, no treatment was given, and the cat′s ear-shaped scars gradually became flat after 1 year of follow-up; fat liquefaction occurred in 1 case 4 days after surgery, re-suturing of the incision was done 1 week after the removal of internal sutures and drainage, and the incision healed well; 1 case developed infection 3 days after surgery, and then received the removal of internal sutures, drainage, and anti-infection treatment, re-suturing was performed after complete regression of the incision swelling, and the incisions healed well; scar hyperplasia occurred in 4 cases 3 to 6 months after surgery, and the scars became flat after the local injection of triamcinolone acetonide. In the remaining children, fine white linear scars were formed after the healing of incisions, the depressions and ridges at both ends of the incisions became flat, and there was no obvious pulling sensation in facial organs or formation of cat′s ear-shaped scars.Conclusions:Subcutaneous asymmetric tension reduction combined with dermal buried angular mattress suture can effectively reduce tension twice during delicate facial surgery in infants and preschoolers, and help to avoid incision widening and scar hyperplasia. The follow-up showed favorable long-term efficacy and aesthetic effect.