RESUMO
Six patients of the same family present with micronodular and generalized familial angiomatosis. Four of them have been investigated. Their problem is purely esthetic; however an asymptomatic form of von Willebrand disease has been found in a female and one of her daughters. The light microscope reveals a network of dilated capillaries in the superficial dermis. Electron microscope investigation of the endothelium demonstrates on abundance of Weibel-Palade bodies, the presence of osmiophilic inclusions within clear vacuoles, the occurrence of long spacing collagen fibrils in the vicinity of endothelial and perithelial cells; furthermore, cytoplasmic projections within the lumen constitute the most dramatic and constant feature: there are many villosities, loops, coils, tufts and entanglements in all four cases.
Assuntos
Angiomatose/genética , Neoplasias Cutâneas/genética , Telangiectasia/genética , Adolescente , Adulto , Angiomatose/ultraestrutura , Endotélio Vascular/ultraestrutura , Feminino , Humanos , Linhagem , Neoplasias Cutâneas/ultraestrutura , Telangiectasia/patologia , Doenças de von Willebrand/complicaçõesRESUMO
The investigation and follow-up of three cases of EPP led us to reevaluate the signs and symptoms of the disease, the usefulness of early skin biopsies and protoporphyrin and ferrochelatase determinations. A review of the literature brought forth the salient features of this inborn error of porphyrin metabolism and stressed the value of treatment with beta-carotene and canthaxantine but also the risk of the so-called "gold dust" retinopathy.
Assuntos
Eritrócitos , Porfirias/diagnóstico , Porfirinas , Protoporfirinas , Dermatopatias/diagnóstico , Adulto , Cantaxantina , Carotenoides/análogos & derivados , Carotenoides/uso terapêutico , Criança , Feminino , Humanos , Masculino , Porfirias/tratamento farmacológico , Porfirias/patologia , Pele/ultraestrutura , Dermatopatias/tratamento farmacológico , Dermatopatias/patologiaRESUMO
While treated with isoxicam, a middle-aged lady developed first diffuse maculopapules and afterwards a syndrome of Lyell; similar observations of bimodal toxicodermatitis have been reported in the literature.