Objective:To analyze pathogenic mutations in a child with ankyloblepharon-ectodermal defects-cleft lip/palate syndrome.Methods:Clinical data were collected from a patient with ankyloblepharon-ectodermal defects-cleft lip/palate syndrome, and DNA was extracted from peripheral blood samples from the patient and his parents. High-throughput sequencing was performed in the patient by using a gene panel targeting hereditary skin diseases, aiming to determine sites of disease-causing gene mutations. Then, Sanger sequencing was conducted to bidirectionally verify the mutations in the patient and his parents.Results:The male patient aged 3 years and 9 months, and presented with extensive erythema, scales, erosions as well as repeated infections and erosions of the scalp after birth. Reticulated hyper- and hypopigmented patches and scars left on the trunk and limbs after healing of erosions. Physical examination also showed sparse scalp hair, absence of most eyebrows and eyelashes, cleft palate, dysplastic teeth, dystrophic finger and toe nails, and deformed ears without ankyloblepharon. Genetic testing of the patient showed a novel heterozygous missense mutation c.1790T>A (p.Ile597Asn) in the TP63 gene, which had not been reported previously and was rated as pathogenic according to the American College of Medical Genetics and Genomics guidelines. This mutation was not identified in either of his parents.Conclusion:The novel heterozygous missense mutation c.1790T>A in the TP63 gene probably contributes to ankyloblepharon-ectodermal defects-cleft lip/palate syndrome in the patient, which expands genotypic and phenotypic spectrum of this disease.

Objective:To evaluate the effect of oral acitretin on the height and bone development of children.Methods:Clinical and imaging data were collected from 106 children receiving oral acitretin for at least 1 month in Department of Dermatology, Beijing Children′s Hospital from March 2007 to January 2021, and retrospectively analyzed. The main outcome measures were height and near-adult height. Multivariate logistic regression analysis was carried out to investigate relevant factors for short stature in children, and non-inferiority test was used to analyze the proximity of the actual height to target height of children who had reached near-adult height. The secondary outcome measures were bone age and epiphyseal closure. Wilcoxon signed-rank test was used to analyze differences in the value of bone age minus chronological age between the baseline and last follow-up, and the premature closure of epiphysis was also evaluated.Results:Among the 106 children, 62 were males and 44 were females; 84 were diagnosed with pustular psoriasis, 10 with psoriasis vulgaris, 11 with pityriasis rubra pilaris, and 1 with lupus miliaris disseminatus faciei. These children received oral acitretin at doses of <1 mg·kg -1·d -1 for 1 - 90 months. Among the 96 children aged under 18 years, 91 (94.8%) were of normal stature, and 5 (5.2%) were short in stature; among the 83 children receiving acitretin monotherapy, 81 (97.6%) were of normal stature, and 2 (2.4%) of short stature. Binary logistic regression analysis showed that the risk of short stature caused by acitretin combined with glucocorticoid therapy was 76.57 times higher than that of acitretin monotherapy ( OR = 77.57, 95% CI: 2.20 - 2 738.82, P = 0.017) , while the type of disease, gender, age at onset, age at initial treatment with acitretin, course of treatment, and average daily dose of acitretin did not significantly affect the stature of children ( P = 0.988, 0.214, 0.087, 0.078, 0.066, 0.350, respectively) . At the last follow-up visit, 13 children who had reached near-adult height were of normal stature, and the non-inferiority test showed that their near-adult height was not inferior to the target height (Satterthwaite = 0.23, P = 0.030) . Bone age was evaluated in 45 children at baseline and last follow-up visit, there was no significant difference in the value of bone age minus chronological age between the baseline and last follow-up ( Z = -0.85, P = 0.250) , and no patients experienced premature closure of epiphysis before and after the treatment. Conclusion:This study preliminarily revealed that oral acitretin at doses of <1 mg·kg -1·d -1 for less than 90 months might not significantly affect the height and bone development of children.

Objective:To compare the efficacy and safety of biologics versus methotrexate in the treatment of severe pediatric plaque psoriasis.Methods:A retrospective matched case-control study was carried out. Twenty children with severe plaque psoriasis from Beijing Children′s Hospital, Capital Medical University from June 2016 to November 2021 were included in this study, and the patients treated with biologics (adalimumab or secukinumab) were matched with those treated with methotrexate at a ratio of 1∶1 according to the psoriasis area and severity index (PASI) score and age. PASI, physician′s global assessment (PGA) , and body surface area (BSA) scores were assessed at weeks 4, 8 and 12 after the start of treatment, and adverse drug reactions were recorded. Statistical analysis was mainly carried out by using Mann-Whitney U test, Fisher′s exact test and generalized estimating equations. Results:At weeks 4 and 8, the proportions of patients achieving PASI75 and PASI90 were significantly higher in the biologics group (PASI75: 7/10, 10/10, PASI90: 5/10, 9/10, respectively) than in the methotrexate group (PASI75: 1/10, 5/10, PASI90: 0, 1/10, respectively; all P < 0.05) , while there was no significant difference between the biologics group and methotrexate group at week 12 (PASI75: 10/10 vs. 8/10, PASI90: 9/10 vs. 4/10, both P > 0.05) . There were no significant differences in the PASI, BSA or PGA scores between the two groups at baseline (all P > 0.05) , while the biologics group showed significantly decreased PASI and BSA scores at weeks 4, 8 and 12, and significantly decreased PGA score at week 8 compared with the methotrexate group (PASI: Z = 2.50, 3.56, 2.63, respectively; BSA: Z = 2.87, 3.57, 2.40, respectively; PGA: Z = 2.81; all P<0.05) . Analysis of changes over time showed that the PASI, PGA and BSA scores in the biologics group significantly decreased at weeks 4, 8 and 12 compared with those at baseline (all P<0.01) ; the PASI and PGA scores significantly decreased at weeks 8 and 12 compared with the corresponding scores at week 4 (all P<0.05) ; however, there were no significant differences in the PASI, PGA or BSA scores between week 12 and 8 (all P>0.05) . In the methotrexate group, the PASI, PGA and BSA scores at weeks 4, 8 and 12 were all significantly lower than the corresponding scores at the previous adjacent time points (all P<0.05) . There was no significant difference in the incidence of adverse reactions between the two groups ( P = 0.650) , and no serious adverse reactions occurred in either group. The main adverse reaction was infection in the biologics group, while infection and elevation of transaminase levels were common in the methotrexate group. Conclusion:Biologics and methotrexate were both effective and safe for the treatment of severe pediatricplaque psoriasis, and biologics facilitated rapider achievement of PASI75 and PASI90 compared with methotrexate.