RESUMO
Sneddon syndrome is a rare disorder characterised by generalised livedo racemosa of the skin with extracutaneous neurological symptoms like headache, vertigo, transient ischaemic attacks (TIA), stroke, and seizures. Diagnosis of Sneddon syndrome is based on these clinical features and positive findings in skin biopsies, namely the histological proof of occlusion of arterioles by intimal proliferation. We describe three cases of young patients with clinical characteristics of Sneddon syndrome, but in only two cases could this diagnosis be confirmed by skin biopsies. These cases stress the difficulty of diagnosing Sneddon syndrome and show the additive value of skin biopsies in this process.
Assuntos
Artérias/patologia , Doenças do Sistema Nervoso/diagnóstico , Dermatopatias Vasculares/patologia , Pele/patologia , Síndrome de Sneddon/diagnóstico , Adulto , Anticorpos Antifosfolipídeos/sangue , Biópsia/métodos , Isquemia Encefálica/diagnóstico , Diagnóstico Diferencial , Feminino , Humanos , Imageamento por Ressonância Magnética , Masculino , Músculo Liso Vascular/patologia , Fatores de Risco , Pele/irrigação sanguínea , Síndrome de Sneddon/sangue , Tomografia Computadorizada por Raios XRESUMO
Erythropoietic protoporphyria (EPP) is an inherited disorder of the porphyrin metabolism that often remains undiagnosed in children. We report on a 4-year-old girl who had been suffering for 1 year from recurrent painful crises affecting her hands, feet, and nose following sun exposure. Objective skin lesions were absent until the age of 6. Porphyrin analysis revealed elevated free erythrocyte protoporphyrin (FEP) levels confirming the diagnosis of EPP. This illustrates that skin lesions might be completely absent in children affected with EPP, a fact that has only been reported once previously. Because EPP can manifest with few and unspecific cutaneous symptoms or no skin lesions at all, like in this patient, the diagnosis of EPP might be delayed or missed. EPP should be excluded in all photosensitive children, especially when discomfort is disproportionate to the extent of the cutaneous lesions. The clinic, pathophysiology, diagnosis, complications, and therapy of EPP are discussed.