RESUMO
A 23-day-old boy with prenatal diagnosis of basilar artery aneurysm presented with multiple congenital red patches consistent with capillary malformations. Genetic testing confirmed the presence of a heterozygous pathogenic variant of the RASA1 gene, confirming the diagnosis of capillary malformation-arteriovenous malformation (CM-AVM) syndrome. This case illustrates an atypical presentation of the RASA1 associated CM-AVM syndrome, with the intracranial vascular malformation diagnosis preceding the identification of the skin lesions. Arterial aneurysms have been associated with CM-AVM syndrome in rare instances but to our knowledge this is the first reported case of an aneurysm of the basilar artery.
Assuntos
Aneurisma Intracraniano , Mancha Vinho do Porto , Malformações Arteriovenosas , Capilares/anormalidades , Humanos , Aneurisma Intracraniano/complicações , Aneurisma Intracraniano/diagnóstico , Aneurisma Intracraniano/genética , Masculino , Mutação , Mancha Vinho do Porto/complicações , Mancha Vinho do Porto/diagnóstico , Mancha Vinho do Porto/genética , Proteína p120 Ativadora de GTPase/genéticaAssuntos
Bupropiona/efeitos adversos , Hipersensibilidade Tardia/induzido quimicamente , Naltrexona/efeitos adversos , Psoríase/induzido quimicamente , Pustulose Exantematosa Aguda Generalizada/etiologia , Fármacos Antiobesidade/efeitos adversos , Feminino , Humanos , Pessoa de Meia-Idade , Testes do EmplastroRESUMO
A 9-year-old boy presented with recurring subcutaneous nodules on both legs and knees temporally related each time to acetazolamide treatment for idiopathic intracranial hypertension. A biopsy of one of the lesions revealed palisaded granulomas in the hypodermis around necrobiotic collagen and interstitial accumulation of mucin, compatible with subcutaneous granuloma annulare (SGA). To the best of our knowledge, this is the first case that establishes an association between SGA and acetazolamide.
Assuntos
Acetazolamida , Granuloma Anular , Acetazolamida/efeitos adversos , Biópsia , Criança , Granuloma Anular/induzido quimicamente , Granuloma Anular/diagnóstico , Granuloma Anular/tratamento farmacológico , Humanos , Masculino , Recidiva Local de Neoplasia , Tela SubcutâneaRESUMO
Elastolytic giant cell granuloma (EGCG), also known as actinic granuloma, is an uncommon granulomatous dermatosis usually characterised by asymptomatic annular plaques on sun-exposed skin. Its aetiology is not fully elucidated, but actinic damage has been considered the main causal factor. Atypical variants with lesions in a non-photodistributed pattern are rare and often related to a systemic disorder, suggesting a more complex pathogenesis and demanding for a screening work-up. Herein, we report a case of an adult obese, diabetic woman presenting with a generalised pruritic papular eruption, histologically revealing an elastolytic giant cell granuloma, with a good response to treatment. In this case, the dermatosis was probably associated with her metabolic comorbidities.
Assuntos
Granuloma Anular/diagnóstico , Granuloma de Células Gigantes/diagnóstico , Griseofulvina/administração & dosagem , Hidroxicloroquina/administração & dosagem , Idoso , Complicações do Diabetes/diagnóstico , Complicações do Diabetes/tratamento farmacológico , Complicações do Diabetes/patologia , Granuloma Anular/tratamento farmacológico , Granuloma Anular/patologia , Granuloma de Células Gigantes/tratamento farmacológico , Granuloma de Células Gigantes/patologia , Griseofulvina/uso terapêutico , Humanos , Hidroxicloroquina/uso terapêutico , Obesidade/complicações , Resultado do TratamentoAssuntos
Anti-Inflamatórios não Esteroides/efeitos adversos , Vesícula/etiologia , Toxidermias/etiologia , Toxidermias/prevenção & controle , Ibuprofeno/efeitos adversos , Biópsia , Vesícula/complicações , Toxidermias/complicações , Feminino , Humanos , Pessoa de Meia-Idade , Testes do Emplastro , Pele/patologiaAssuntos
Síndrome de Birt-Hogg-Dubé/diagnóstico , Síndrome de Birt-Hogg-Dubé/genética , Dermatoses Faciais/diagnóstico , Proteínas Proto-Oncogênicas/genética , Proteínas Supressoras de Tumor/genética , Adulto , Síndrome de Birt-Hogg-Dubé/patologia , Doença Crônica , Cistos/tratamento farmacológico , Dermatoses Faciais/patologia , Humanos , Pneumopatias/diagnóstico por imagem , Masculino , Pescoço , Tomografia Computadorizada por Raios XRESUMO
Phakomatosis pigmentovascularis (PPV) is an uncommon dermatosis characterised by the presence of both pigmentary and vascular abnormalities.1 Its pathogenesis is not elucidated, and the prognosis is mainly determined by the presence of extracutaneous manifestations, such as Klippel-Trenaunay syndrome (KTS), that is defined by the triad of a port-wine stain (PWS), anomalous veins and progressive overgrowth of the affected extremity. Herein, we report a case of an adult patient, who presented with a large PWS, nevus of Ota, ocular melanosis, and limb hypertrophy and varicosities. These findings represented a rare association of PPV type IIb and KTS.
Assuntos
Síndrome de Klippel-Trenaunay-Weber/complicações , Síndromes Neurocutâneas/complicações , Mancha Vinho do Porto/complicações , Adulto , Capilares/anormalidades , Diagnóstico Diferencial , Humanos , Síndrome de Klippel-Trenaunay-Weber/diagnóstico , Masculino , Melanose/complicações , Melanose/diagnóstico , Síndromes Neurocutâneas/classificação , Síndromes Neurocutâneas/diagnóstico , Mancha Vinho do Porto/diagnóstico , Malformações Vasculares/complicações , Malformações Vasculares/diagnósticoRESUMO
Hypotrichosis with juvenile macular dystrophy is a rare autosomal recessive disease, characterized by hypotrichosis and progressive macular degeneration, leading to blindness in the first three decades of life. It is associated with mutations in the cadherin 3 gene, resulting in the abnormal expression of P-cadherin. We report a case of a 4-year-old female patient diagnosed with this genodermatosis.
RESUMO
OBJECTIVE: We aimed to verify if there is evidence to consider dichloroacetate (DCA), which inhibits the pyruvate dehydrogenase kinase (PDK) and reverts the metabolic shift of cancer cells from glycolysis to oxidative phosphorylation, as a promising drug for therapy of cutaneous melanoma (CM) patients. RESEARCH DESIGN AND METHODS: We assessed the expression profile of PDK 1, 2 and 3 in a series of melanoma samples, to verify if melanoma tumors express the DCA targets, if this expression correlates with the activation of important signaling cascades for melanomagenesis and also with the prognosis of melanoma patients. We also established the sensitivity of melanoma cell lines to DCA treatment, by assessing their metabolic alterations, proliferation and survival. RESULTS: We observed that both PDK 1 and 2 isoforms are overexpressed in CM compared to nevi, this expression being associated with the expression of the mTOR pathway effectors and independent of the BRAF mutational status. Melanoma cell lines treated with DCA showed a shift in metabolism, that is, a decrease in glucose consumption and lactate production, downregulation of proliferation, an increase of apoptosis and a decrease in mTOR pathway activation. CONCLUSION: Our results suggest that PDK expression may play a role in melanoma development and that DCA can be useful for CM therapy, alone or in combination with mTOR inhibitors.
Assuntos
Ácido Dicloroacético/farmacologia , Melanoma/tratamento farmacológico , Proteínas Serina-Treonina Quinases/genética , Neoplasias Cutâneas/tratamento farmacológico , Adulto , Idoso , Apoptose/efeitos dos fármacos , Linhagem Celular Tumoral , Ácido Dicloroacético/administração & dosagem , Feminino , Regulação Neoplásica da Expressão Gênica , Humanos , Masculino , Melanoma/enzimologia , Pessoa de Meia-Idade , Prognóstico , Proteínas Proto-Oncogênicas B-raf/genética , Piruvato Desidrogenase Quinase de Transferência de Acetil , Neoplasias Cutâneas/enzimologia , Sobrevida , Serina-Treonina Quinases TOR/metabolismoRESUMO
The reactivation or reexpression of telomerase (TERT) is a widespread feature of neoplasms. TERT promoter mutations were recently reported that were hypothesized to result from UV radiation. In this retrospective study, we assessed TERT promoter mutations in 196 cutaneous basal cell carcinomas (BCCs), including 102 tumors from X-irradiated patients, 94 tumors from patients never exposed to ionizing radiation treatment, and 116 melanomas. We sought to evaluate the effects of UV and X-ray irradiation on TERT mutation frequency. TERT mutations were detected in 27% of BCCs from X-irradiated patients, 51% of BCCs from nonirradiated patients, and 22% of melanoma patients. TERT mutations were significantly increased in non-X-irradiated BCC patients compared with X-irradiated BCC patients; the mutations also presented a different mutation signature. In nonirradiated patients, TERT mutations were more frequent in BCCs of sun-exposed skin, supporting a possible causative role of UV radiation. In melanoma, TERT promoter mutations were generally restricted to intermittent sun-exposed areas and were associated with nodular and superficial spreading subtypes, increased thickness, ulceration, increased mitotic rate, and BRAFV600E mutations. Our results suggest that various carcinogenic factors may cause distinct TERT promoter mutations in BCC and that TERT promoter mutations might be associated with a poorer prognosis in melanoma.