Objective To investigate the expressions of Na+/H+ exchanger regulatory factor 1 (NHERF1) and β-catenin in extramammary Paget's disease tissue as well as their significance.Methods Immunohistochemistry was performed to detect the protein expressions of NHERF1 and β-catenin in paraffin-embeded tissue samples from 18 patients with in situ and 22 patients with invasive extramammary Paget's disease.Results There was a high expression of NHERF1 protein in 18 (81.82％) invasive and 7 (38.89％) in situ extramammary Paget's disease samples (x2 =7.78,P ＜ 0.01).Statistical differences were observed in the membrane expression rate and cytoplasmic or nuclear expression rate of β-catenin between invasive and in situ extramammary Paget's disease tissue samples (0 (0/22) vs.33.33％ (6/18),x2 =8.63,P ＜ 0.01; 81.82％ (18/22) vs.44.44％ (8/18),x2 =6.08,P ＜ 0.05).In extramammary Paget's disease in situ tissue samples,the expression of NHERF1 was negatively correlated with the cytomembrane expression of β-catenin (ρ =-0.488,P ＜ 0.01),but positively correlated with the cytoplasmic or nuclear expression of β-catenin (ρ =0.623,P ＜ 0.01),and there was a negative correlation between the cytomembrane and cytoplasmic or nuclear expression of β-catenin (ρ =-0.572,P ＜ 0.01).Conclusions There is an abnormal expression of NHERF1 and β-catenin in extramammary Paget's disease tissue,which may be associated with the initiation,progression,and invasion of primary extramammary Paget's disease.

Objective To study the clinical value of acoustic radiation force impulse imaging (ARFI) in patients with ischemic type biliary lesion (ITBL) after orthotopic liver transplantation. Methods Between July 2012 to January 2013, forty-one patients in General Hospital of the People′s Liberation Army were enrolled in this study who were admitted for post-transplantation follow-up. Among them, 15 patients were diagnosed as ITBL by ultrasonography. Besides conventional ultrasonography, ARFI was used to detect the shear wave velocity (SWV) of liver tissue at depth of 4 cm and 5 cm respectively. Simultaneously liver function test was performed. Independent-samples t test was performed to compare the difference of SWV between ITBL and non-ITBL group at the same depth. Paired-sample t test was performed to compare the difference of SWV for the same ITBL patient. Pearson correlation analysis was used in analyzing the relation between SWV and liver function. Results The average SWV in depth of 4 cm was (1.561±0.425) m/s and (1.121±0.160) m/s in ITBL and non-ITBL group, respectively. Signiifcant differences were found among the ITBL and non-ITBL groups (t=-3.173, P=0.01). The average SWV in depth of 5 cm was (1.608±0.545) m/s and (1.175±0.173) m/s in ITBL and non-ITBL group, respectively. Signiifcant differences were found among the ITBL and non-ITBL groups (t=-2.454, P=0.034). There was no signiifcant difference between SWV measurements at different depth for the same ITBL patient. For all patients, SWV at different depths were both strongly correlated with alkaline phosphatase (r=0.656, 0.667, respectively;both P=0.000) andγ-glutamyl transpeptidase (r=0.482, P=0.007;r=0.508, P=0.004). Conclusion The liver stiffness measurement is valuable for the clinical evaluation of post-transplantation ITBL.

Objective:To identify pathogenic genes in 3 cases of piebaldism, and to explore the genotype-phenotype relationships in piebaldism.Methods:Clinical data were collected from 3 patients with piebaldism and their parents at the Department of Dermatology, Henan Provincial People′s Hospital from January 2019 to December 2021. Peripheral blood samples were obtained from them and 100 unrelated healthy controls, and DNA was extracted. Whole-exome sequencing technology was used to screen genetic variation sites, and then Sanger sequencing was performed for verification. The deleteriousness of genetic variants was evaluated by using pathogenicity analysis software tools.Results:Case 1: a 23-year-old male patient presented with white patches on the forehead, chest, and abdomen for 23 years, and his parents had no similar symptoms; case 2: a 1-year- and 5-month-old male infant presented with white patches on the forehead and abdomen for 1 year, and his parents had no similar symptoms; case 3: a 6-year-old male child presented with white patches on the forehead and limbs for 6 years, and his parents had no similar clinical manifestations. Genetic testing showed that a missense mutation c.2033T>C (p.L678P) in exon 14 of the KIT gene, a splice site mutation c.2485-1G>C in exon 18 of the KIT gene, and a heterozygous missense mutation c.2346C>G (p.F782L) in exon 16 of the KIT gene were identified in the case 1, 2, 3 respectively, but no above mutations were identified in the patients′ parents or 100 unrelated healthy controls. The 3 genetic variants were all novel pathogenic mutations, and all were deleterious mutations.Conclusions:Three novel pathogenic mutations in the KIT gene were identified in the 3 cases of piebaldism, namely c.2033T>C (p.L678P), c.2485-1G>C, and c.2346C>G (p.F782L). It was further verified that the severity of piebaldism was closely related to the type and location of KIT gene mutations.

A 60-year-old female proband presented with recurrent erythema, blisters and erosions all over the body for 30 years, which had been aggravated 10 days prior to the presentation. Skin examination showed erythematous swelling of the bilateral eyelids with scattered dark red crusts, scattered erythema and erosions on the nasolabial folds and chin, large areas of erythema and erosions on the neck, bilateral axillae, left cubital fossa, perineum and perianal area, accompanied by bright red granulation tissues and positive Nikolsky′s sign. The proband had two sons, both of whom occasionally presented with erythema and erosions on the axillae and groin, and had not been diagnosed or treated. Blood samples were collected from the proband and her two sons, and genomic DNA was extracted and subjected to whole-exome sequencing. A heterozygous deletion mutation c.955_957del (p.A319del) was identified in the ATP2C1 gene in the proband and her two sons, which had not been previously reported. The patient was finally diagnosed with generalized familial benign chronic pemphigus.