A dermatological assessment of pediatric patients with tuberous sclerosis complex (TSC).

BACKGROUND: Tuberous sclerosis complex (TSC) is a multisystem neurocutaneous syndrome with variable phenotypes. Recent updates of TSC diagnostic criteria reaffirmed the defined genetic diagnostic criterion as the finding of a pathogenic DNA alteration in either TSC1 or TSC2 genes. It also slightly modified definite clinical diagnostic criteria. TSC-associated skin lesions in infancy are important clinical signs to select individuals with possible TSC for a closer clinical follow-up and genetic testing. OBJECTIVE: To raise awareness of the updated TSC diagnosis criteria; to assess the frequency of skin lesions in TSC patients as well as the first dermatological presentation; and to associate the findings with either TSC1 or TSC2 mutations. METHODS: Observational cross-sectional study. Clinical and genetic data were retrospectively collected from 37 TSC patients from a Brazilian University Hospital. Patients with skin signs were examined and prospectively assessed for 12 months. RESULTS: The earliest cutaneous lesions were hypomelanotic macules, which together with angiofibromas were the most frequent dermatological lesions. The total pathogenic DNA alteration ratio between TSC2 and TSC1 genes was 8:1. The frequency of a TSC2 pathogenic variant was 10-fold greater in the presence of ungual fibromas. STUDY LIMITATIONS: Small sample and a limited number of patients with TSC1 pathogenic variants. CONCLUSION: Clinicians should be knowledgeable about TSC updated diagnostic criteria. Patients need to be followed up by a multidisciplinary team and treated accordingly. Early detection of cutaneous lesions is important for TSC diagnosis. A significant association between TSC2 gene pathogenic alterations and ungual fibromas is described.

Graft-versus-host disease and other cutaneous manifestations in pediatric patients transplanted for Fanconi anemia.

OBJECTIVE: The aim of this study was to elaborate a specific protocol for the assessment and early identification of skin lesions in pediatric patients with Fanconi anemia undergoing hematopoietic stem cell transplantation. METHODS: This is a longitudinal, retrospective, and descriptive study. The medical records of 136 pediatric patients with Fanconi anemia who underwent hematopoietic stem cell transplantation between 2008 and 2018 at the Clinical Hospital of the Federal University of Paraná were reviewed. A specific protocol was created for data collection, which included age, sex, skin color, age at diagnosis of Fanconi anemia, transplantation data, family history of consanguinity, and pre- and post-transplant complications. In addition, the data included the presence of graft-versus-host disease of the skin and other organs, its classification, type of lesion, location, and also skin lesions not related to graft-versus-host disease. RESULTS: Among the skin manifestations in pre-transplant period, café-au-lait spots stood out (32.4%). At least one organ was affected by graft-versus-host disease in 55.1% of patients; the most common involvement being the mouth, followed by the skin. Rash and erythema were the most frequently observed cutaneous manifestations of graft-versus-host disease. CONCLUSION: A high prevalence of cutaneous manifestations of the disease was observed, as well as cutaneous manifestations of graft-versus-host disease. The protocol developed gathers relevant and standardized information for the follow-up of patients with Fanconi anemia undergoing hematopoietic stem cell transplantation, ensuring greater reliability of the information, and its implementation will allow the prospective evaluation of patients.

Graft-versus-host disease and other cutaneous manifestations in pediatric patients transplanted for Fanconi anemia / Doença do enxerto contra o hospedeiro e outras manifestações cutâneas em pacientes pediátricos transplantados por anemia de Fanconi

ABSTRACT Objective: The aim of this study was to elaborate a specific protocol for the assessment and early identification of skin lesions in pediatric patients with Fanconi anemia undergoing hematopoietic stem cell transplantation. Methods: This is a longitudinal, retrospective, and descriptive study. The medical records of 136 pediatric patients with Fanconi anemia who underwent hematopoietic stem cell transplantation between 2008 and 2018 at the Clinical Hospital of the Federal University of Paraná were reviewed. A specific protocol was created for data collection, which included age, sex, skin color, age at diagnosis of Fanconi anemia, transplantation data, family history of consanguinity, and pre- and post-transplant complications. In addition, the data included the presence of graft-versus-host disease of the skin and other organs, its classification, type of lesion, location, and also skin lesions not related to graft-versus-host disease. Results: Among the skin manifestations in pre-transplant period, café-au-lait spots stood out (32.4%). At least one organ was affected by graft-versus-host disease in 55.1% of patients; the most common involvement being the mouth, followed by the skin. Rash and erythema were the most frequently observed cutaneous manifestations of graft-versus-host disease. Conclusion: A high prevalence of cutaneous manifestations of the disease was observed, as well as cutaneous manifestations of graft-versus-host disease. The protocol developed gathers relevant and standardized information for the follow-up of patients with Fanconi anemia undergoing hematopoietic stem cell transplantation, ensuring greater reliability of the information, and its implementation will allow the prospective evaluation of patients.

RESUMO Objetivo: Elaborar um protocolo específico para a avaliação e identificação precoces de lesões de pele em pacientes pediátricos com anemia falciforme submetidos ao transplante de células-tronco hematopoiéticas. Métodos: Estudo longitudinal, retrospectivo e descritivo. Foram revisados os prontuários dos pacientes pediátricos com anemia de Fanconi submetidos a transplante de células-tronco hematopoiéticas entre os anos de 2008 e 2018 no Hospital de Clínicas da Universidade Federal do Paraná, totalizando 136 pacientes. Foi criado um protocolo específico para a coleta de dados, que incluiu: idade, sexo, cor, idade ao diagnóstico da anemia de Fanconi, dados do transplante, história familiar de consanguinidade e complicações pré e pós-transplante. Além disso, foram verificados a presença de doença do enxerto contra o hospedeiro da pele e de outros órgãos, sua classificação, tipo de lesão, localização e, também, lesões de pele não relacionadas à doença. Resultados: Entre as manifestações de pele no período pré-transplante, destacaram-se as manchas café com leite (32,4%). Pelo menos um órgão foi afetado pela doença do enxerto contra o hospedeiro em 55,1% dos pacientes, sendo o acometimento mais comum o de boca, seguido pelo de pele. Exantema e eritema foram as manifestações cutâneas mais frequentemente observadas. Conclusões: Observou-se alta prevalência de manifestações cutâneas próprias da doença, bem como de manifestações cutâneas de doença do enxerto contra o hospedeiro. O protocolo elaborado reúne informações relevantes e padronizadas para o acompanhamento dos pacientes com anemia de Fanconi submetidos ao transplante, garantindo maior confiabilidade das informações, e sua implementação permitirá a avaliação prospectiva dos pacientes.

Randomized trial with soaps - what happens to a newborn baby's skin?

Abstract Objective: Evaluate the effectiveness of a children's soap with physiological pH in maintaining cutaneous pH and moisture of the newborn (NB)'s skin after the first bath. Methods: Randomized, controlled and double-blind clinical trial in a rooming-in of a tertiary maternity hospital in southern Brazil with 204 newborns > 34 gestational weeks. Gestational and obstetric history was evaluated, and newborns were randomized into two groups according to the product applied in the bath: the control group (CG), which used common liquid soap with pH 7.0 and experimental group (EG), which used children's liquid soap with pH 5.8. Evaluation was made immediately before and after bath with skin pH measurement, corneometry and clinical parameters (erythema, scaling and moisture), on the forehead, abdomen and thigh. Results: There was no difference between groups regarding gestational, obstetric and family history (p > 0.05). In CG, skin pH increased in the abdomen and thigh (p < 0.05). In EG there was an improvement in clinical parameters after bathing with: increased moisture, less erythema and less scaling (p < 0.05). On the forehead, there was a significant increase in pH after bathing (p < 0.001) similar in both groups, although no use of soap. There was no difference in corneometry between groups after bathing. Conclusions: Children's liquid soap with physiological pH maintained the acidic skin pH and moisture of the newborn's skin after the first bath, which reinforces the importance of using products with physiological pH in the hygiene of newborns. Registration number RBR-9ky84vd.

Randomized trial with soaps - what happens to a newborn baby's skin?

OBJECTIVE: Evaluate the effectiveness of a children's soap with physiological pH in maintaining cutaneous pH and moisture of the newborn (NB)'s skin after the first bath. METHODS: Randomized, controlled and double-blind clinical trial in a rooming-in of a tertiary maternity hospital in southern Brazil with 204 newborns > 34 gestational weeks. Gestational and obstetric history was evaluated, and newborns were randomized into two groups according to the product applied in the bath: the control group (CG), which used common liquid soap with pH 7.0 and experimental group (EG), which used children's liquid soap with pH 5.8. Evaluation was made immediately before and after bath with skin pH measurement, corneometry and clinical parameters (erythema, scaling and moisture), on the forehead, abdomen and thigh. RESULTS: There was no difference between groups regarding gestational, obstetric and family history (p > 0.05). In CG, skin pH increased in the abdomen and thigh (p < 0.05). In EG there was an improvement in clinical parameters after bathing with: increased moisture, less erythema and less scaling (p < 0.05). On the forehead, there was a significant increase in pH after bathing (p < 0.001) similar in both groups, although no use of soap. There was no difference in corneometry between groups after bathing. CONCLUSION: Children's liquid soap with physiological pH maintained the acidic skin pH and moisture of the newborn's skin after the first bath, which reinforces the importance of using products with physiological pH in the hygiene of newborns. Registration number RBR-9ky84vd.

Educational intervention and atopic dermatitis: impact on quality of life and treatment.

BACKGROUND: Educational intervention (EI) could improve understanding of atopic dermatitis (AD) and adherence to treatment, decreasing severity, and improving quality of life (QoL). OBJECTIVE: This study aims to evaluate the influence of an EI on the severity of the disease and on the QoL in children with AD. METHODS: A controlled clinical trial was performed, including children up to 14 years of age with AD. Patients were allocated into control group (CG), which received usual guidelines on AD during the outpatient visit, and a study group (SG) that, in addition to the usual guidelines, participated in the EI. The severity of AD was assessed by Scoring Atopic Dermatitis (SCORAD) and Eczema Area and Severity Index (EASI). QoL was assessed by the Children's Dermatology Life Quality Index and the Dermatitis Family Impact Questionnaire. RESULTS: Twenty-seven participants were included in the CG and 21 in the SG. There was a decrease in the median value for the QoL of children in the SG after the intervention (p = 0.04), as well as in the caregiver's (p = 0.04). In the CG, the median QoL of children and caregivers remained unaltered, for caregivers the median value for the QoL was equal throughout first and second evaluation (p = 0.32). In the SG, EASI values decreased after the intervention (p = 0.04), as well as SCORAD (p = 0.04). The CG did not show any decrease in the values of EASI (p = 0.88) scores nor of SCORAD scores (p = 0.82). CONCLUSION: The EI rendered a decrease in severity of the disease and improvement in the QoL of patients and their caregivers.

Vitamin D supplementation and severity of atopic dermatitis: pre-post assessment

Background/objectives There is evidence that vitamin D (VD) supplementation may help in the management of atopic dermatitis (AD). The aim of this study was to assess the influence of VD supplementation on the severity of AD. Methods Pre–post interventional study with prospective data collection in patients younger than 14 years. The severity of AD was determined through SCORAD (SCORing Atopic Dermatitis) and classified as mild (SCORAD < 25), moderate (≥25 and <50), and severe (≥50). Skin prick test was performed in all patients. Serum VD levels were classified as sufficient (≥30 ng/mL), insufficient (29 to 21 ng/mL), and deficient (≤20 ng/mL); and those with inadequate levels received oral supplementation of VD for 3 months, and were reassessed after treatment. Results A total of 152 patients were included. Patients with sufficient vitamin levels had lower SCORAD values (p = 0.04). Further, 116 patients (76.3%) received VD supplementation and after 3 months, VD levels were significantly higher (35.9 ng/mL) compared to baseline levels (23.7 ng/mL, p < 0.001). At the same time, a reduction in the SCORAD index was observed (19.4 before vs 12.3 after supplementation, p < 0.001). Considering other factors that could influence the decrease in AD severity after VD supplementation, female gender was associated with a worse treatment response (p = 0.02). Conclusion Vitamin D supplementation could be an adjuvant in reducing the severity of atopic dermatitis (AU)

Vitamin D supplementation and severity of atopic dermatitis: pre-post assessment.

BACKGROUND/OBJECTIVES: There is evidence that vitamin D (VD) supplementation may help in the management of atopic dermatitis (AD). The aim of this study was to assess the influence of VD supplementation on the severity of AD. METHODS: Pre-post interventional study with prospective data collection in patients younger than 14 years. The severity of AD was determined through SCORAD (SCORing Atopic Dermatitis) and classified as mild (SCORAD < 25), moderate (≥25 and <50), and severe (≥50). Skin prick test was performed in all patients. Serum VD levels were classified as sufficient (≥30 ng/mL), insufficient (29 to 21 ng/mL), and deficient (≤20 ng/mL); and those with inadequate levels received oral supplementation of VD for 3 months, and were reassessed after treatment. RESULTS: A total of 152 patients were included. Patients with sufficient vitamin levels had lower SCORAD values (p = 0.04). Further, 116 patients (76.3%) received VD supplementation and after 3 months, VD levels were significantly higher (35.9 ng/mL) compared to baseline levels (23.7 ng/mL, p < 0.001). At the same time, a reduction in the SCORAD index was observed (19.4 before vs 12.3 after supplementation, p < 0.001). Considering other factors that could influence the decrease in AD severity after VD supplementation, female gender was associated with a worse treatment response (p = 0.02). CONCLUSION: Vitamin D supplementation could be an adjuvant in reducing the severity of atopic dermatitis.

Colorimetric analysis of images in the follow-up of infantile hemangiomas.

BACKGROUND/OBJECTIVES: Infantile hemangiomas (IH) are common vascular tumors that appear early in life, have a rapid proliferative phase and slowly involute. There are no standardized ways to evaluate the regression of these lesions. We propose a colorimetric analysis of photographs to allow a more precise determination of IH treatment response and involution. METHODS: Patients 1-10 months of age with superficial or mixed IH were included. The lesions were managed with 0.5% topical timolol ophthalmic solution. Patients were followed for 16 weeks with 6 evaluations each. Photographic images were taken with a red and green circle placed beside each hemangioma. The photographs were treated as to equalize the size, color, and brightness among them based on the colors of the two circles. A grading scale was established based on the color of the patient skin (0) and the color of the hemangioma at the beginning of treatment (100) by pixel analysis using Adobe Photoshop® software. RESULTS: A total of 17 patients 1 to 10 months of age were included, of whom 16 were girls (94%). Fourteen lesions were superficial, and 3 were mixed IH. The median time prior to initiation of treatment was 105 days (44-232). All lesions showed some degree of clearing. The mean of lightening of color intensity observed was of 45% (17%-74%) over the period of follow-up. CONCLUSIONS: The colorimetric analysis of the digital images allowed an accurate and objective evaluation of IH clearing.

PIBIDS syndrome in two Brazilian siblings.

Trichothiodystrophy is a rare condition associated with autosomal recessive or X-linked dominant variants in the ERCC2, ERCC3, GTF2H5, MPLKIP, RNF113A or GTF2E2 genes. The genes associated to photosensitive trichothiodystrophy encode subunits of transcription factor IIH, involved in the nucleotide excision repair pathway. The disease is characterised by cysteine-deficient brittle hair along with other neuroectodermal abnormalities. It has a variable clinical expression and some cases might be associated with photosensitivity, resulting in the acronym PIBIDS (photosensitivity, ichthyosis, brittle hair, intellectual impairment, decreased fertility and short stature). We report clinical findings of two siblings diagnosed with trichothiodystrophy associated with marked photosensitivity.

Photoprotection in adolescents: what they know and how they behave.

BACKGROUND: The greatest sun exposure occurs until adolescence and this is the only factor involved in photocarcinogenesis subject to modification with photoprotection. OBJECTIVE: The objective of this study was to evaluate the habits and knowledge of adolescents regarding photoprotection. METHOD: Cross-sectional study that included 512 students from primary and high school. Data were collected by questionnaires with questions about habits and knowledge on sun protection. For data analysis, Pearson's Chi-square test and Yates test were applied, with 5% level of significance. RESULTS: We evaluated 512 students, with a mean age of 14 years old. The teenagers agreed that ultraviolet rays cause skin cancer and aging (96% and 70%, respectively). Knowledge about the occurrence of burns even on cloudy days was recorded in 68% of cases, as well as the need for photoprotection for sports in 72%. The source of information about sun protection were by parents in 55%. In 70% was observed previous occurrence of sunburn, the daily use of sunscreens was found in 15% and 67% used only at the beach. of sunscreens with SPF higher than 30 was reported by 70% of students and 57% reported going to the beach between 10h and 16h. In 68% of cases it was registered insufficient sun protection, attributed, in 57% of the time to forgetfulness. STUDY LIMITATIONS: The sample refers to two schools of Curitiba (PR), Brazil. CONCLUSION: Teenagers know the risks of sun exposure, but they do not adopt the practices for adequate protection.

Photoprotection in adolescents: what they know and how they behave

Abstract: Background: The greatest sun exposure occurs until adolescence and this is the only factor involved in photocarcinogenesis subject to modification with photoprotection. Objective: The objective of this study was to evaluate the habits and knowledge of adolescents regarding photoprotection. Method: Cross-sectional study that included 512 students from primary and high school. Data were collected by questionnaires with questions about habits and knowledge on sun protection. For data analysis, Pearson's Chi-square test and Yates test were applied, with 5% level of significance. Results: We evaluated 512 students, with a mean age of 14 years old. The teenagers agreed that ultraviolet rays cause skin cancer and aging (96% and 70%, respectively). Knowledge about the occurrence of burns even on cloudy days was recorded in 68% of cases, as well as the need for photoprotection for sports in 72%. The source of information about sun protection were by parents in 55%. In 70% was observed previous occurrence of sunburn, the daily use of sunscreens was found in 15% and 67% used only at the beach. of sunscreens with SPF higher than 30 was reported by 70% of students and 57% reported going to the beach between 10h and 16h. In 68% of cases it was registered insufficient sun protection, attributed, in 57% of the time to forgetfulness. Study limitations: The sample refers to two schools of Curitiba (PR), Brazil. Conclusion: Teenagers know the risks of sun exposure, but they do not adopt the practices for adequate protection.

Multifocal Congenital Hemangiopericytoma.

Congenital hemangiopericytoma (HPC) is a rare mesenchymal tumor with less aggressive behavior and a more favorable prognosis than similar tumors in adults. Multifocal presentation is even less common than isolated HPC and hence its clinical and histologic recognition may be challenging. A newborn infant with multifocal congenital HPC causing severe deformity but with a favorable outcome after chemotherapy and surgical removal is reported.

Critical assessment of the pH of children's soap / Avaliação crítica do pH dos sabonetes infantis

Abstract Objective: To evaluate the pH value of children's antibacterial soaps and syndets used in children's baths and verify whether there is information regarding pH on the product label. Methods: Quantitative, cross-sectional, analytical observational study that included ninety soap samples, both in bar and liquid presentations, as follows: 67 children's soap (group 1), 17 antibacterial soaps (group 2), and 6 syndets (group 3). Each sample had its pH measured after 1% dilution. In addition to descriptive statistics, the Pearson-Yates chi-squared test and Student's t-tests were applied, considering the minimal significance level of 5%. The Wilcoxon-Mann-Whitney test, Fisher's exact test, and the Kruskal-Wallis test were used for inferential statistics. Results: The pH levels varied considerably between liquid and bar presentations, with lower levels (4.4-7.9) found for the liquids (p < 0.05). Syndets showed pH levels close to the ideal (slightly acid) and the antibacterial soaps showed the highest pH levels (up to 11.34) (p < 0.05). Only two of the soaps included in the study had information about their pH levels on the product packaging. Conclusions: Knowledge of the pH of children's soap by doctors and users is important, considering the great pH variability found in this study. Moreover, liquid soaps, and especially syndets, are the most recommended for the sensitive skin of neonates and infants, in order to guarantee skin barrier efficacy.

Resumo Objetivos: Avaliar o pH dos sabonetes infantis, antibacterianos e sindets (syntetic detergents) habitualmente usados em crianças, bem como verificar se há no rótulo desses produtos informação sobre seu pH. Métodos: Estudo observacional, analítico, transversal e quantitativo, que incluiu 90 sabonetes nas apresentações em barra e líquida, 67 infantis (grupo 1), 17 antibacterianos (grupo 2) e 6 sindets (grupo 3). Procedeu-se à mensuração do pH das amostras após diluição a 1%. Além da estatística descritiva, foram usados os testes de qui-quadrado Persons/Yates e t de Student, com nível de significância mínimo de 5%. Para a estatística inferencial, foram usados os testes de Wilcoxon-Mann-Whitney, exato de Fisher e Kruskal-Wallis. Resultados: O pH variou consideravelmente entre as formas líquida e em barra, com pHs menores (de 4,4 a 7,9) nos líquidos (p < 0,05). Os sindets mostraram pHs próximos ao ideal (levemente ácidos) e os antibacterianos apresentaram os maiores pHs (até 11,34) (p < 0.05). Apenas dois dos sabonetes analisados apresentavam no rótulo a indicação do pH. Conclusões: A observação do pH dos sabonetes infantis pelos médicos e usuários é importante, haja vista a grande variabilidade de valores de pH encontrados. Além disso, os sabonetes líquidos, e especialmente os sindets, são os mais recomendados para uso em recém-nascidos e lactentes com pele sensível, de forma a garantir a eficácia da barreira cutânea.

Serum Vitamin D Levels Not Associated with Atopic Dermatitis Severity.

BACKGOUND/OBJECTIVES: The objective of the current study was to determine the relationship between serum vitamin D levels and the severity of atopic dermatitis (AD) in a Brazilian population. METHODS: This was a cross-sectional study of patients younger than 14 years of age seen from April to November 2013. All patients fulfilled the Hanifin and Rajka Diagnostic Criteria for AD diagnosis. Disease severity was determined using the SCORing Atopic Dermatitis index and classified as mild (<25), moderate (25-50), or severe (>50). Serum vitamin D levels were classified as sufficient (≥30 ng/mL), insufficient (29-21 ng/mL), or deficient (≤20 ng/mL). RESULTS: A total of 105 patients met the inclusion criteria. Mild AD was diagnosed in 58 (55.2%) children, moderate in 24 (22.8%), and severe in 23 (21.9%). Vitamin D deficiency was observed in 45 individuals (42.9%). Of these, 24 (53.3%) had mild AD, 13 (28.9%) moderate, and 8 (17.7%) severe. Insufficient vitamin D levels were found in 45 (42.9%) individuals; 24 (53.3%) had mild AD, 9 (20.0%) moderate, and 12 (26.7%) severe. Of the 15 individuals (14.2%) with sufficient vitamin D levels, 10 (60.7%) had mild AD, 2 (13.3%) moderate, and 3 (20.0%) severe. The mean vitamin D level was 22.1 ± 7.3 ng/mL in individuals with mild AD, 20.8 ± 6.5 ng/mL in those with moderate AD, and 21.9 ± 9.3 ng/mL in those with severe AD. Variables such as sex, age, skin phototype, season of the year, and bacterial infection were not significantly associated with vitamin D levels. CONCLUSION: Levels of 25-hydroxyvitamin D were deficient or insufficient in 85% of the children, but serum vitamin D concentrations were not significantly related to AD severity.

Critical assessment of the pH of children's soap.

OBJECTIVE: To evaluate the pH value of children's antibacterial soaps and syndets used in children's baths and verify whether there is information regarding pH on the product label. METHODS: Quantitative, cross-sectional, analytical observational study that included ninety soap samples, both in bar and liquid presentations, as follows: 67 children's soap (group 1), 17 antibacterial soaps (group 2), and 6 syndets (group 3). Each sample had its pH measured after 1% dilution. In addition to descriptive statistics, the Pearson-Yates chi-squared test and Student's t-tests were applied, considering the minimal significance level of 5%. The Wilcoxon-Mann-Whitney test, Fisher's exact test, and the Kruskal-Wallis test were used for inferential statistics. RESULTS: The pH levels varied considerably between liquid and bar presentations, with lower levels (4.4-7.9) found for the liquids (p<0.05). Syndets showed pH levels close to the ideal (slightly acid) and the antibacterial soaps showed the highest pH levels (up to 11.34) (p<0.05). Only two of the soaps included in the study had information about their pH levels on the product packaging. CONCLUSIONS: Knowledge of the pH of children's soap by doctors and users is important, considering the great pH variability found in this study. Moreover, liquid soaps, and especially syndets, are the most recommended for the sensitive skin of neonates and infants, in order to guarantee skin barrier efficacy.