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.

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.

Nappy (diaper) rash: what else besides irritant contact dermatitis?

Nappy (diaper) rash is a common cutaneous disorder of infancy, and diverse dermatoses may affect this region. To perform a differential diagnosis can be challenging. We present four cases to emphasise the importance of clinical diagnosis.

The relevance of recognizing clinical and morphologic features of pityriasis lichenoides: clinicopathological study of 29 cases.

BACKGROUND: Pityriasis lichenoides (PL) is a lymphoproliferative disease of unknown origin; its diagnosis is based on clinical characteristics and confirmed by histology. OBJECTIVES: To describe clinical and histological features of PL in 29 pediatric patients. MATERIALS AND METHODS: Retrospective descriptive study of children (patients less than 15 years old) diagnosed with PL between 1986 and 2010 at a Reference Service in Pediatric Dermatology from South Brazil. RESULTS: Twenty-nine PL cases were found by chart review in 24 years. Mean age of diagnosis was 8 years (22 to 178 months) and a mean time of diagnosis was 13.8 months (1 to 120 months). Twenty cases (69%) were male. Seasonal correlation was found with colder months in 62% of cases (p<0.01). Clinical diagnosis was pityriasis lichenoides chronica (PLC) in 25 cases, and pityriasis lichenoides et varioliformis acuta (PLEVA) in four. Itching was the main reported symptom occurring in 13 (45%). Fourteen cases had been histologically evaluated. In six, microscopic findings were consistent with PLC, in four consistent with PLEVA, and four biopsies exhibited mixed characteristics of both forms. Concordance between clinical and histological diagnosis was seen in most cases. CONCLUSION: PL occurs in children and young adults, more commonly in males, and during cold months. PLC was the more frequent clinicohistologic form, and necrotic lesions characterized PLEVA. Associating clinical and histological findings is important for differentiating between PLC and PLEVA diagnosis.

Cutaneous manifestations in patients with Wiskott-Aldrich syndrome submitted to haematopoietic stem cell transplantation.

INTRODUCTION: Wiskott-Aldrich syndrome (WAS) is an X-linked primary immunodeficiency caused by a mutation of the WAS protein gene. This protein actively participates in important cellular processes, and its presence is related to diverse clinical manifestations, including cutaneous alterations. The classical triad of WAS consists of recurrent infections, thrombocytopaenia with small platelets and atopic dermatitis (AD)-like lesions. OBJECTIVE: To evaluate the frequencies of cutaneous manifestations in patients with WAS prior to haematopoietic stem cell transplantation (HSCT). RESULTS: Twenty-four boys diagnosed with WAS and treated with HSCT between 1992 and 2007 were included. The characteristic triad of WAS occurred in 46% of patients. Before HSCT, the most frequent cutaneous manifestations included eczema similar to AD (71%), followed by petechiae and/or ecchymosis (58%) and cutaneous infections (17%). CONCLUSIONS: Cutaneous manifestations in patients with WAS are frequent, especially those similar to the eczema found in AD.

An inflammatory reaction surrounding molluscum contagiosum as possible manifestation of immune reconstitution inflammatory syndrome in HIV infection.

Highly active antiretroviral therapy can restore specific immune responses and control of microorganism infections in human immunodeficiency virus-positive patients. This immune recovery may cause an inflammatory reaction to microbial and autoimmune antigens known as immune reconstitution inflammatory syndrome. We describe a clinical case with an intense inflammatory response surrounding molluscum contagiosum after highly active antiretroviral therapy. The clinical and laboratory findings suggested that the reaction was due to immune reconstitution inflammatory syndrome occurring during a period of immune recovery in a child with acquired immune deficiency syndrome.

Granuloma anular: aspectos clínicos y evolutivos de 52 pacientes / Granuloma annulare: clinical and developmental aspects of 52 patients

Introducción: El granuloma anular (GA) es una dermatosis benigna autolimitada. Se observa con mayor frecuencia en la edad escolar y, si bien la causa es desconocida, se postula que puede ser una reacción inmune de hipersensibilidad tardía a diversos antígenos. El diagnóstico es clínico y se basa en la presencia de placas de centro hipercrómico o color piel normal y límites papulares arciformes. La asociación con diabetes mellitus en los pacientes en la franja etaria pediátrica aún es controvertida. El objetivo de este trabajo es evaluar las características clínicas y evolutivas del GA en la infancia. Materiales y métodos: Estudio retrospectivo y descriptivo de pacientes de hasta 15 años de edad que tuvieron diagnóstico de GA, entre los años 1990 y 2008 en el servicio de atención terciaria de la ciudad de Curitiba, Brasil. Resultados: Fueron evaluados 52 casos de GA. La edad media de inicio fue de 4,5 años (14 meses a 12 años). En el 88% de los casos, las lesiones fueron asintomáticas. La forma localizada ocurrió en 39 (75%) pacientes, la profunda en 9 (17%) y las formas generalizada y perforante en 2 casos respectivamente. De los 33 pacientes con seguimiento, el 78,7% presentó mejoría de las lesiones en un período medio de 8 meses (1 a 35 meses). La glucemia en ayunas fue normal en los 18 (34%) casos evaluados. Un paciente tenía diagnóstico previo de diabetes mellitus tipo 1. Discusión: En esta población el GA afectó predominantemente al sexo femenino, con lesiones circinadas y localizadas en el dorso de los pies. La forma clínica más común fue la localizada, no hubo alteración de la glucemia y la resolución espontánea ocurrió en la mayoría de los casos.

Introduction: Granuloma annulare (GA) is a self-limited dermatosis. It is observed at school age the cause is unknown, it is believed to be an immune reaction of delayed hypersensitivity to various antigens. The diagnosis is clinical and based on the presence of arciform plaques with Introduction: Granuloma annulare (GA) is a self-limited dermatosis. It is observed at school age and hyperpigmented or flesh-coloured skin center. The association with diabetes mellitus in the pediatric population remains controversial. The objective of this work is to evaluate the clinical features and outcome of granuloma annulare in childhood. Materials and methods: Retrospective descriptive study of patients up to 15 years of age diagnosed with GA, between 1990 and 2008, in a tertiary care center of the city of Curitiba, Brasil. Results: We evaluated 52 cases of GA. The average age of onset was 4.5 years (14 months to 12 years). In 88% of cases the lesions were asymptomatic. The localized type was observed in 39 (75%) patients, deep lesions in 9 (17%) and generalized and perforating type in 2 cases each. Of the 33 patients with follow-up, 78.7% showed improvement in the lesions over an average period of 8 months (1 to 35 months). Glycemia was normal in the 18 cases evaluated. One patient had a previous diagnosis of type 1 diabetes mellitus. Discussion: We found, among the studied population, that GA occurred predominantly in females, with localized circinate lesions occurring mainly in the dorsal region of the feet. There was no increase in blood glucose and the spontaneous resolution occurred in most of the cases.

Paraqueratose granular: relato de seis casos em crianças / Granular parakeratosis: a report of six cases in children

A paraqueratose granular é alteração da queratinização, primeiramente descrita em adultos, caracterizada por pápulas e placas hiperqueratósicas nas áreas intertriginosas. Os autores descrevem seis casos de paraqueratose granular em crianças. Um paciente apresentava lesões nas regiões glúteas, dois em ambas as axilas e região cervical (apresentações inéditas na literatura). Três pacientes apresentavam lesões em pregas inguinais. Realizam também revisão da literatura e discutem a possível etiologia dessa rara dermatose.