RESUMO
BACKGROUND: Next-generation sequencing has greatly increased our understanding of vascular birthmarks. Many port-wine birthmarks are due to somatic mutations in GNAQ/GNA11 exon 183, but other genomic causes have been identified. Most congenital hemangiomas are due to somatic mutations in GNAQ/GNA11 at exon 209. Although genomically distinct, clinical overlap of congenital hemangiomas and port-wine birthmarks has occasionally been described. OBJECTIVE: We report a case series of a unique segmentally distributed vascular anomaly with overlapping characteristics of port-wine birthmarks and congenital hemangiomas with other distinctive features including ulceration, atrophy, and scarring. METHODS: This was a multicenter study with retrospective identification of patients via a detailed review of medical records. We also reviewed previously published cases. RESULTS: The clinical, histological, radiological, and genomic characteristics of 19 new and 13 previously reported cases characterized by segmental distribution, sharply demarcated borders, with variable thickening are presented. All cases had central atrophy with or without episodic ulceration. Those with genomic studies (13 out of 32) had somatic activating missense mutations in GNA11 or GNAQ codon 209. CONCLUSIONS: We describe the features and propose a descriptive name segmental congenital vascular anomaly with atrophy, ulceration, and scarring (SeCVAUS) for this condition.
RESUMO
Mast cells (MCs) can release a variety of biologically active mediators under different circumstances, such as fever or vaccination. Our aim was to evaluate the incidence and severity of MC activation symptoms induced by SARS-CoV-2 virus (COVID-19) infection and vaccination in a cohort of 92 pediatric patients with cutaneous mastocytosis. Our findings support previous evidence on the safety of COVID-19 infection and vaccination in patients with MC disorders.
Assuntos
Vacinas contra COVID-19 , COVID-19 , Mastocitose Cutânea , SARS-CoV-2 , Adolescente , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , COVID-19/prevenção & controle , Vacinas contra COVID-19/efeitos adversos , Estudos Transversais , Estudos Retrospectivos , VacinaçãoAssuntos
Medicamentos Biossimilares , Hidradenite Supurativa , Deficiência de Mevalonato Quinase , Psoríase , Humanos , Adalimumab/efeitos adversos , Ustekinumab/efeitos adversos , Hidradenite Supurativa/complicações , Hidradenite Supurativa/tratamento farmacológico , Hidradenite Supurativa/induzido quimicamente , Medicamentos Biossimilares/efeitos adversos , Psoríase/complicações , Psoríase/tratamento farmacológico , Psoríase/induzido quimicamenteRESUMO
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
Segmental infantile hemangiomas related to PHACE syndrome have recently been associated with enamel hypoplasia. We present two cases of solitary, localized upper lip infantile hemangioma with enamel hypoplasia of deciduous teeth.
Assuntos
Coartação Aórtica/complicações , Hipoplasia do Esmalte Dentário/etiologia , Anormalidades do Olho/complicações , Hemangioma/etiologia , Neoplasias Labiais/etiologia , Síndromes Neurocutâneas/complicações , Feminino , Hemangioma/tratamento farmacológico , Humanos , Lactente , Neoplasias Labiais/tratamento farmacológicoRESUMO
BACKGROUND: The superficial lymphatic component of vascular malformations poses a significant treatment challenge. It is responsible for the majority of symptoms presented, and to date, there is no consensus regarding treatment. OBJECTIVE: To evaluate the effectiveness of topical rapamycin in treating superficial lymphatic malformations (LM). METHODS: A case series study was performed of patients with superficial LM, treated with topical rapamycin. The clinical characteristics of patients and the concentration and application mode of the drug were recorded. The changes in the signs and symptoms observed and associated adverse effects were noted and analyzed. RESULTS: The study population consisted of 11 patients of an average age of 10.5 years. All were treated with topical rapamycin: 6 patients with a 1% concentration, 1 with a 0.8% concentration, and 4 with a 0.4% concentration. Changes in the clinical appearance of the lesions were observed in all patients. The associated symptoms, present in 9 of 11 patients, improved in every case. The mean follow-up time was 16.1 months. LIMITATIONS: This study is retrospective, with a small sample size and considerable heterogeneity of lesions and treatment approaches. CONCLUSION: Treatment with topical rapamycin modifies the clinical appearance and alleviates symptoms of superficial LM.
Assuntos
Imunossupressores/uso terapêutico , Anormalidades Linfáticas/diagnóstico , Anormalidades Linfáticas/tratamento farmacológico , Sirolimo/uso terapêutico , Administração Tópica , Adolescente , Criança , Pré-Escolar , Estudos de Coortes , Feminino , Humanos , Masculino , Prognóstico , Estudos Retrospectivos , Índice de Gravidade de Doença , Resultado do TratamentoAssuntos
Diterpenos/administração & dosagem , Tecido de Granulação/efeitos dos fármacos , Dermatopatias/tratamento farmacológico , Idoso de 80 Anos ou mais , Carcinoma de Células Escamosas/cirurgia , Tecido de Granulação/patologia , Humanos , Masculino , Couro Cabeludo/patologia , Dermatopatias/patologia , Neoplasias Cutâneas/cirurgia , Resultado do TratamentoRESUMO
Abstract Acral persistent papular mucinosis (APPM) is a rare subtype of localized lichen myxedematosus. It consists of small papules localized exclusively on the back of the hands, wrists and extensor aspects of distal forearms with no other clinical or laboratory manifestations. The lesions tend to persist and may increase slowly in number. Histologically, hematoxylin-eosin and Alcian blue staining demonstrate mucin accumulation in the upper reticular dermis with separation of collagen fibers as a result of hyaluronic acid deposition. Treatment is rarely necessary due to the absence of symptoms. We present a 27-year-old healthy woman with asymptomatic papules on her upper extremities, which adequately meet clinical and pathological criteria of acral papular mucinosis.
Assuntos
Humanos , Feminino , Adulto , Pele/patologia , Dermatopatias/patologia , Escleromixedema/patologia , Biópsia , Extremidade Superior , Doenças Raras , Mucinas/análiseRESUMO
Acral persistent papular mucinosis (APPM) is a rare subtype of localized lichen myxedematosus. It consists of small papules localized exclusively on the back of the hands, wrists and extensor aspects of distal forearms with no other clinical or laboratory manifestations. The lesions tend to persist and may increase slowly in number. Histologically, hematoxylin-eosin and Alcian blue staining demonstrate mucin accumulation in the upper reticular dermis with separation of collagen fibers as a result of hyaluronic acid deposition. Treatment is rarely necessary due to the absence of symptoms. We present a 27-year-old healthy woman with asymptomatic papules on her upper extremities, which adequately meet clinical and pathological criteria of acral papular mucinosis.