Assuntos
Isotretinoína , Farmacêuticos , Humanos , Gravidez , Feminino , Irlanda , Farmacêuticos/organização & administração , Isotretinoína/uso terapêutico , Fármacos Dermatológicos/uso terapêutico , Fármacos Dermatológicos/administração & dosagem , Prescrições de Medicamentos/estatística & dados numéricos , Papel Profissional , Acne Vulgar/tratamento farmacológico , Complicações na Gravidez/prevenção & controle , Complicações na Gravidez/tratamento farmacológicoRESUMO
We describe a dramatic presentation of a rare condition, presenting as a diffuse ecchymosis-like area. This entity has a predilection to primary cutaneous involvement, placing dermatologists as important primary assessors. Clinical knowledge and a high level of clinical suspicion are essential for timely diagnosis. Click here for the corresponding questions to this CME article.
Assuntos
Exantema , Púrpura , Humanos , Masculino , Púrpura/etiologia , Púrpura/patologiaAssuntos
COVID-19 , Carcinoma Basocelular , Dermatologia , Neoplasias Cutâneas , Hospitais , Humanos , Neoplasias Cutâneas/cirurgiaAssuntos
COVID-19 , Dermatologia , Melanoma , Neoplasias Cutâneas , COVID-19/epidemiologia , Humanos , Melanoma/epidemiologia , Melanoma/patologia , Pacientes Ambulatoriais , Pandemias , Estudos Retrospectivos , Neoplasias Cutâneas/epidemiologia , Neoplasias Cutâneas/patologia , Melanoma Maligno CutâneoAssuntos
Colite Ulcerativa/diagnóstico , Síndrome de Sweet/diagnóstico , Azatioprina/uso terapêutico , Colite Ulcerativa/tratamento farmacológico , Colite Ulcerativa/imunologia , Humanos , Imunossupressores/uso terapêutico , Masculino , Pênis , Prednisolona/uso terapêutico , Escroto , Síndrome de Sweet/tratamento farmacológico , Síndrome de Sweet/imunologia , Adulto JovemAssuntos
Adenocarcinoma/diagnóstico , Nevo Pigmentado/diagnóstico , Síndromes Paraneoplásicas/diagnóstico , Neoplasias da Próstata/diagnóstico , Neoplasias Cutâneas/diagnóstico , Adenocarcinoma/complicações , Idoso , Diagnóstico Diferencial , Humanos , Masculino , Nevo Pigmentado/etiologia , Síndromes Paraneoplásicas/etiologia , Neoplasias da Próstata/complicações , Neoplasias Cutâneas/etiologiaRESUMO
This case presents a 39-year-old gentleman with a single angiokeratoma on the abdomen. Because of a family history of early onset cardiac disease, testing for Fabry disease was performed and a mis-sense mutation (A143T) in the Fabry gene confirmed the diagnosis. The unusual aspect of this case is that the patient otherwise had normal health. His only detectable abnormality was a high serum creatinine at 116 mmol/L. Two further affected males and four carrier females were detected on family screening. We tested a further five patients with a single angiokeratoma for Fabry disease. In the five tested though, no suggestive personal or family history was given for any of the patients and no further cases were detected. This case highlights the need for vigilance within dermatology clinics to consider Fabry disease even if a solitary angiokeratoma is the only presenting feature. Some patients do display a milder phenotype and thus a detailed family history should always be taken. As in this case, a solitary angiokeratoma and a suspicious family history may be the only clue. Because enzyme replacement therapy is now available, the potential benefits for the patient and their family are high.