RESUMO
Barber-Say syndrome (BSS) is a rare congenital ectodermal dysplasia with few cases reported in the literature. We describe a 9-year-old boy with congenital generalized hypertrichosis and multiple rhabdomyomatous mesenchymal hamartomas (RMHs) on his nose and periocular region. Next-generation sequencing, performed in DNA from a blood sample, and RMH tissue, revealed a pathogenic variant in the TWIST2 gene, which was not detected in a salivary sample of the patient, nor in his parents. Therefore, we consider this variant as de novo mosaicism. To our knowledge, this is the first case of multiple RMHs associated with BSS.
Assuntos
Anormalidades Múltiplas , Doenças Palpebrais , Hamartoma , Hipertelorismo , Hipertricose , Macrostomia , Anormalidades da Pele , Masculino , Humanos , Criança , Hipertricose/genética , Hipertricose/congênito , Anormalidades Múltiplas/genética , Hirsutismo/genética , Hamartoma/complicações , Hamartoma/diagnóstico , Hamartoma/genéticaRESUMO
Diaper dermatitis is a common dermatosis that usually responds to adequate hygiene and topical treatment, but can be a therapeutic challenge. Continuous exposure to feces and urine can cause extensive erosions and pain. The use of hydrocolloid dressings may be helpful in keeping the skin isolated from stool and urine, reducing pain, and enabling skin lesions to heal. We explain an easy technique, utilizing stoma powder and a hydrocolloid dressing, for parents to apply at home.
Assuntos
Curativos Hidrocoloides , Dermatite das Fraldas , Humanos , Curativos Hidrocoloides/efeitos adversos , Dermatite das Fraldas/terapia , Dermatite das Fraldas/etiologia , Pele , Cicatrização , Administração TópicaRESUMO
A newborn presented with extensive rounded and velvety epidermal nevus (RAVEN) with a genetic study of the cutaneous lesions revealing a heterozygous mutation in FGFR2 (p.Cys382Arg). By 2 years of age, the patient developed hair heterochromia and autism spectrum disorder. Although RAVEN was initially associated with fibroblast growth factor 3 (FGFR3) mutations, three cases of RAVEN have been identified with mutations in FGFR2 (p.Ser252Trp) and one case of linear keratinocytic epidermal nevi has been identified with the same mutation as the mutation identified in our patient. This strongly supports the pathogenic role of these mutations.
Assuntos
Transtorno do Espectro Autista , Transtorno Autístico , Corvos , Nevo Sebáceo de Jadassohn , Nevo , Recém-Nascido , Animais , Humanos , Nevo/patologia , Mutação , Cabelo/patologia , Receptor Tipo 2 de Fator de Crescimento de Fibroblastos/genéticaRESUMO
BACKGROUND: Guidelines and expert recommendations on infantile hemangiomas (IH) are aimed at increasing homogeneity in clinical decisions based on the risk of sequelae. OBJECTIVE: The objective was to analyze the inter- and intra-observer agreement among pediatric dermatologists in the choice of treatment for IH. METHODS: We performed a cross-sectional inter-rater and intra-rater agreement study within the Spanish infantile hemangioma registry. Twenty-seven pediatric dermatologists were invited to participate in a survey with 50 clinical vignettes randomly selected within the registry. Each vignette contained a picture of an infantile hemangioma with a clinical description. Raters chose therapy among observation, topical timolol, or oral propranolol. The same survey reordered was completed 1 month later to assess intra-rater agreement. Vignettes were stratified into hemangioma risk categories following the Spanish consensus on IH. The agreement was measured using kappa statistics appropriate for the type of data (Gwet's AC1 coefficient and Gwet's paired t test). RESULTS: Twenty-four dermatologists completed the survey. Vignettes represented 7.8% of the Spanish hemangioma registry. The inter-rater agreement on the treatment decision was fair (AC1 = 0.39, 95% confidence interval [CI]: 0.30-0.47). When stratified by risk category, good agreement was reached for high-risk hemangiomas (AC1 = 0.77, 95% CI: 0.51-1.00), whereas for intermediate- and low-risk categories, the agreement was only fair (AC1 0.31, 95% CI: 0.16-0.46 and AC1 = 0.38, 95% CI: 0.27-0.48, respectively). Propranolol was the main option for high-risk hemangiomas (86.4%), timolol for intermediate-risk (36.8%), and observation for low-risk ones (55.9%). The intra-rater agreement was good. The inter-rater agreement between pediatric dermatologists on the treatment of IH is only fair. Variability was most significant with intermediate- and low-risk hemangiomas.
Assuntos
Hemangioma Capilar , Hemangioma , Criança , Estudos Transversais , Dermatologistas , Hemangioma/tratamento farmacológico , Humanos , Variações Dependentes do Observador , Pediatria , Propranolol/uso terapêutico , Espanha , Timolol/uso terapêuticoRESUMO
Skin cancer has become a public health problem due to its increasing incidence. However, the malignancy risk of the lesions can be reduced if diagnosed at an early stage. To do so, it is essential to identify particular characteristics such as the symmetry of lesions. In this work, we present a novel approach for skin lesion symmetry classification of dermoscopic images based on deep learning techniques. We use a CNN model, which classifies the symmetry of a skin lesion as either "fully asymmetric", "symmetric with respect to one axis", or "symmetric with respect to two axes". Moreover, we introduce a new dataset of labels for 615 skin lesions. During the experimentation framework, we also evaluate whether it is beneficial to rely on transfer learning from pre-trained CNNs or traditional learning-based methods. As a result, we present a new simple, robust and fast classification pipeline that outperforms methods based on traditional approaches or pre-trained networks, with a weighted-average F1-score of 64.5%.
Assuntos
Aprendizado Profundo , Dermatopatias , Neoplasias Cutâneas , Dermoscopia/métodos , Humanos , Redes Neurais de Computação , Neoplasias Cutâneas/diagnóstico por imagemRESUMO
In the last few years, the use of oral sirolimus has shown promising results in the treatment of some complex vascular anomalies, and recently, it has been used in patients with Sturge-Weber syndrome (SWS). We present the case of an 11-year-old girl with the diagnosis of SWS and hemifacial overgrowth treated with oral sirolimus. Throughout the eight months of follow-up, improvement of the port-wine birthmark, intraocular pressure, and neurocognitive development was noted. The mTOR inhibitors may be useful in the treatment of some patients with SWS.
Assuntos
Mancha Vinho do Porto , Sirolimo , Síndrome de Sturge-Weber , Criança , Face/anormalidades , Assimetria Facial/congênito , Feminino , Humanos , Hiperplasia , Sirolimo/uso terapêutico , Síndrome de Sturge-Weber/diagnóstico , Síndrome de Sturge-Weber/tratamento farmacológicoAssuntos
Microcefalia , Doenças da Unha , Pré-Escolar , Humanos , Leucoplasia , Masculino , Microcefalia/diagnóstico , Pigmentação da PeleRESUMO
BACKGROUND: The guide for monitoring and treatment of congenital hepatic hemangiomas (CHH) will depend on the subtype and the postnatal clinical behavior. Our aim is to present a series of CHH and characterize its clinical, histologic and genetic correlation, compared to cutaneous congenital hemangiomas (CCH). MATERIAL AND METHODS: A retrospective review of CHH patients diagnosed between 1991 and 2018 was performed. Clinical, morphological and histological data were analyzed and deep high-throughput sequencing was performed. MAIN RESULTS: Sixteen patients with CHH were included. Five patients were followed up with serial ultrasounds while pharmacological treatment (corticosteroids and propranolol) was decided in five. Surgical resection was performed in five owing to hemorrhage and suspicion of malignancy, and the last patient underwent embolization. Histologic analysis was available in 7 patients and confirmed CHH, showing two different histological patterns that could be associated with the presence of somatic pathogenic variants in GNAQ and/or PIK3CA detected in the genetic testing. Review of 7 samples of CCH revealed some histologic differences compared to CHH. CONCLUSION: CHH resemble its cutaneous homonym with similar clinical behavior. Histologic analysis can differentiate two subgroups while genetic testing can confirm mutations in GNAQ and in PIK3CA in a subset of CHH. TYPE OF STUDY: Treatment study. LEVEL OF EVIDENCE: IV.
Assuntos
Hemangioma/genética , Hemangioma/patologia , Neoplasias Hepáticas/genética , Neoplasias Hepáticas/patologia , Neoplasias Cutâneas/patologia , Classe I de Fosfatidilinositol 3-Quinases/genética , Feminino , Subunidades alfa Gq-G11 de Proteínas de Ligação ao GTP/genética , Testes Genéticos , Hemangioma/congênito , Hemangioma/terapia , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Lactente , Recém-Nascido , Neoplasias Hepáticas/congênito , Neoplasias Hepáticas/terapia , Masculino , Mutação , Estudos Retrospectivos , Análise de Sequência de DNA , Neoplasias Cutâneas/congênitoRESUMO
INTRODUCTION: Nitric-zinc complex solution (NZCS) is a topically applied solution containing nitric acid, zinc, copper, and organic acids that induce a painless caustic effect on "difficult-to-treat" warts, including palmoplantar and periungual locations. The objective of the present prospective clinical study was to describe the efficacy and tolerability of NZCS in the treatment of palmoplantar and periungual warts in children. METHODS: Eligible patients were immunocompetent children and adolescents, with at least one palmoplantar or periungual wart. NZCS was topically applied every 2 weeks in clinic. Efficacy was recorded by clinical evaluation, and acceptability assessments were measured using a visual analogue scale (VAS). RESULTS: Pediatric patients (N = 12) were equally distributed by gender, and the mean age was 9.60 ± 3.34 years. The youngest patient was 4 years old. A total of 31 warts were identified: 24 periungual warts (77.4%), 2 palmar warts (6.45%), and 5 plantar warts (16.12%). We observed complete resolution in 83.9% of the warts treated with NZCS, achieving total cure considered as therapy success in 87.5% of periungual warts and 71% of palmoplantar warts, with a mean of 6.0 treatment sessions. The esthetic results evaluated by the investigator were considered excellent in 83.3% of cases and good in 16.7%. In 100% of the completely resolved cases, no scars, erythema, hyperpigmentation, hypopigmentation, or hypertrophy in the area surrounding the treated warts were observed by the investigator. The esthetic results evaluated by the patients or parents/guardians were excellent. Pain and burning sensation were minimal and well tolerated. No clinically relevant adverse events were reported. CONCLUSION: NZCS was an effective treatment of warts in this pediatric population. The painlessness, simplicity, and twice-monthly dosing regimen of this treatment represents an advantage over standard approaches. FUNDING: ISDIN. TRIAL REGISTRATION: Retrospectively registered 6 September 2019, ISRCTN90862249.