Acral persistent papular mucinosis: a rare child case report and literature review.

Background: Acral persistent papular mucinosis (APPM) is a rare idiopathic subtype of localized lichen myxedematosus. To date, there have been less than 41 APPM cases reported worldwide, however, almost all patients were older than 18 years of age. A 7-year-old child was first reported in this paper. Case Description: A 7-year-old boy was admitted to our hospital with a solitary skin-colored papule on the radial side of the middle segment of his right index finger. The patient wanted to know the exact diagnosis and remove it because the flexion movement of the middle segment had been affected. Thus, a surgery was performed. Histopathological examination of a biopsy specimen obtained from the papule on the radial side of the middle segment of his right index finger showed a focal and well-circumscribed deposit of mucin in the papillary and middermis. The deposit never extended deeply into the reticular dermis. Mucin spared a subepidermal area in the papillary dermis. Alcian blue stains can highlight the mucin. The papule was histologically diagnosed as an APPM and excised surgically. The wound gradually healed after the operation, and no obvious recurrence, scar or other discomfort was observed during follow-up so far. Conclusions: To the best of our knowledge, this is the rare case of a child APPM presenting as a solitary papule affecting the flexion movement of the middle segment. Since it is a rare disease, we report this case to contribute to future research on the diagnosis and pathogenesis of APPM.

The correlation between rs2501577 gene polymorphism and biliary atresia: a systematic review and meta-analysis.

IMPORTANCE: Multiple studies indicate a possible correlation between ADD3 rs2501577 and biliary atresia susceptibility; however, a conclusive determination has yet to be made. OBJECTIVE: Investigate the role of ADD3 rs2501577 in biliary atresia susceptibility across diverse populations. DATA SOURCES: The study protocol has been registered on PROSPERO, an international platform for systematic review registration (PROSPERO ID: CRD42023384641). The following databases will be searched until February 1, 2023: PubMed, Embase, Cochrane, CBM, Web of Science, and CNKI. STUDY SELECTION: Eight studies were selected from seven papers to assess the data. A total of 7651 participants were included, consisting of 1662 in the BA group and 5989 in the NC group. DATA EXTRACTION AND SYNTHESIS: Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines were followed while conducting the systematic reviews and meta-analyses. Two authors independently assessed the quality of the included studies using the Newcastle-Ottawa Quality Assessment Scale. The significance of the pooled odds ratio (OR) was evaluated with a Z test, and statistical heterogeneity across studies was assessed using the I2 and Q statistics. Publication bias was assessed using Egger's and Begg's tests. MAIN OUTCOME(S) AND MEASURE(S): The primary study outcome was the development of biliary atresia. Subgroup analysis was performed based on race, region, and assessment of Hardy-Weinberg equilibrium (HWE). RESULTS: The studies indicate that the ADD3 rs2501577 susceptibility locus increases the risk of developing biliary atresia, regardless of allelic, homozygote, dominant, and recessive gene inheritance models. Furthermore, ADD3 has been found to be associated with apoptosis, cell cycle, and cell damage repair based on functional analysis. CONCLUSIONS AND RELEVANCE: The ADD3 rs2501577 polymorphic locus is associated with an increased risk of biliary atresia, particularly in Asian populations. This study recommends further investigation of the ADD3 rs2501577 locus in Asian populations to validate its role in the diagnosis of biliary atresia.

Expressions of p53 and inducible nitric oxide synthase in congenital choledochal cysts.

BACKGROUND: Choledochal cyst, an isolated defect unrestricted to the bile duct, is more appropriately regarded as the sentinel feature of a constellation of anomalies affecting the pancreatobiliary system. This study was to assess the relationship between the expression of inducible nitric oxide synthase (iNOS) and the p53 gene as well as the pathogenesis of choledochal cysts. METHODS: iNOS and p53 were detected by immunohistochemistry staining in 26 patients with congenital choledochal cysts. Histopathologically, hyperplasia of the mucosa of the cysts and the amylase level in the bile were also investigated. RESULTS: Patients with a high level of amylase in the bile had higher expression of iNOS than those with a low level of amylase. p53 protein was expressed neither in fusiform type nor in cystic type. The incidence of mucosal hyperplasia was significantly higher in the fusiform type than that in the cystic type. CONCLUSIONS: Higher expression of iNOS may participate in hyperplasia and carcinogenesis of the mucosa of choledochal cysts. The regurgitation of pancreatic juice into the biliary system might induce mucosal hyperplasia of the biliary tract and inflammatory reaction. In preventing regurgitation-caused hyperplasia and malignancy of the bi-liary tract, early surgery is important for children with congenital choledochal cysts.