Background. Basan syndrome is a rare autosomal-dominant ectodermal dysplasia with certain clinic-pathological features caused by mutations in the SMARCAD1 gene. Currently, no skin malignancy related to Basan syndrome has been reported. This study was aimed at identifying related gene mutations in a new Chinese pedigree with Basan syndrome and discovering the possible association between Basan syndrome and cutaneous squamous cell carcinoma (cSCC). Methods. We report a case of Basan syndrome from China with family history of cSCC. The pedigree contains 28 individuals. Among them, 12 members had Basan syndrome, while 4 affected members were diagnosed with cSCC in the 1st and 2nd generations. Whole exome sequencing (WES) and Sanger sequencing were performed for 7 available individuals. The specific gene mutation on pre-mRNA splicing was also analyzed using in vitro Minigene assay. In addition, sequencing data was analyzed with bioinformatics workflow, aiming to discover the gene associated with cSCC. Results. Gene sequencing results showed a heterozygous mutation, c.378+5G>A, in the SMARCAD1 gene in all tested individuals with Basan syndrome. Minigene result implicated the specific mutation may cause splicing variations by exon skipping occurring in the targeted exons. Conclusion. To the best of our knowledge, this is the first study reported Basan syndrome with family history of cSCC. Despite in this study we cannot draw any conclusion about the association between Basan syndrome and cSCC at the genetic level, this study encourages future works to substantiate this potential but important issue.
Purpose: This study aimed to evaluate whether bathing newborns within 36 hours after birth has a temporary negative impact on skin barrier metrics and relates to atopic dermatitis (AD) development.Methods: 55 newborns were bathed with water at 24-36 hours after birth, while 102 newborns did not have bath. Skin barrier metrics, including facial and underarm transepidermal water loss (TEWL), stratum corneum hydration (SCH), and skin humidity, were evaluated 1 hour before and after bath (T0 and T1, respectively), as well as on the next day (T2). A follow-up questionnaire via telephone was conducted 12-month later (T3). AD screening was determined based on the questionnaire.Results: In the non-bathed newborns, no significant alteration in skin barrier function was observed. In the bathed newborns, the underarm SCH significantly deteriorated from 16.60±21.74 at T0 to 8.16±12.27 at T2 (51% deterioration, p=0.009). Deteriorations were also observed for the facial and underarm humidity right after bath (-5%, p=0.017 and -4%, p=0.012) as well as on the next day (-6%, p=0.003 and -5%, p=0.001). At T3, 5% non-bathed newborns were determined to have developed AD during the past 12-month, while this number increased by 4-fold (21%) in the bathed newborns (p=0.010).Conclusion: This study demonstrated a temporary negative impact on newborn’s skin barrier function caused by bathing within 36 hours after birth. Deteriorated skin barrier function in the temporary window may still leave the newborn susceptible to infection and allergy, increasing the risk of triggering AD onset.
Background. Despite the increasing number of skin adverse drug reactions caused by nadroparin calcium have been reported, mostly, little is known regarding of their details of clinical characteristics, especially for generalized skin adverse drug reactions. We sought to evaluate localized and generalized characteristics of the skin adverse drug reaction to nadroparin calcium injection in pregnant women. Methods. A retrospective study was conducted on 6 pregnant women, who experienced localized and generalized skin adverse drug reactions during long-term nadroparin calcium injection. The patients’ clinical and imaging information were retrieved from medical records. The skin prick test, patch test, and intradermal test were performed after they stopped lactation. Causality assessment of suspected adverse drug reactions was performed on these cases. Results. The average total dose of nadroparin calcium injection in the 6 cases was 64.17 ± 22.66. Localized skin adverse drug reaction, manifested as erythema at the injection point, appeared after 47.5 ± 17.4 days of subcutaneous injection of nadroparin calcium. Generalized urticaria-like lesions, progressing from the injection site on the abdomen, appeared in 5.17 ± 3.60 days after the first appearance of localized reaction, while laboratory test results revealed essential peripheral blood eosinophilia. All rashes in the 6 cases subsided in 2–5 weeks after drug withdrawal. After delivery, 5 of 6 cases received complete skin tests to evaluate drug hypersensitivity. Results presented positive in the intradermal test within 7 days. Both the skin prick test and skin patch test were negative. Localized skin reactions and generalized urticaria-like adverse drug reactions were considered as definitely and probably caused by nadroparin calcium injection, respectively. Conclusion. Subcutaneous injection of nadroparin calcium in pregnant women appears to be at risk of localized and generalized urticaria-like adverse drug reaction. It is important to follow up the pregnant woman during nadroparin calcium injection for evaluating adverse drug reactions. Timely detection of symptoms is pivotal in early diagnosis and treatment of adverse drug reactions.
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