RESUMO
SIFD describes a heritable, syndromic condition characterised principally by sideroblastic anaemia (SA) with immunodeficiency, fevers and developmental delay, arising in mutations within the TRNT1 gene. Other clinical manifestations of SIFD include cardiomyopathy, seizures, sensorineural hearing loss, renal dysfunction, metabolic abnormalities, hepatosplenomegaly and retinitis pigmentosa.Presentation of SIFD is variable but typically in early childhood with SA or with fever. In this report, we extend the described SIFD phenotype. We describe a kindred in which the index case presented with fetal hydrops, and early neonatal death, and the second child had severe anaemia at delivery. Both cases had prominent extramedullary erythropoiesis and numerous circulating nucleated red blood cells.
Assuntos
Anemia Neonatal/etiologia , Anemia Sideroblástica/complicações , Deficiências do Desenvolvimento/complicações , Hidropisia Fetal/etiologia , Síndromes de Imunodeficiência/complicações , Ferro/metabolismo , Anemia Neonatal/patologia , Anemia Sideroblástica/patologia , Medula Óssea/patologia , Deficiências do Desenvolvimento/patologia , Evolução Fatal , Feminino , Hematopoese Extramedular , Humanos , Hidropisia Fetal/patologia , Imuno-Histoquímica , Síndromes de Imunodeficiência/congênito , Síndromes de Imunodeficiência/patologia , Recém-Nascido , Masculino , FenótipoRESUMO
Henoch-Schonlein purpura (HSP) is the most common form of vasculitis affecting children. The cutaneous manifestations classically present as urticarial wheals, erythematous maculopapules, petechiae, purpura or oedema, which characteristically involve the lower extremities and buttocks. Haemorrhagic bullous lesions are a recognized but rare occurrence with HSP in children. We report a 6-year-old boy with HSP who developed extensive haemorrhagic bullae requiring dermatological referral and treatment. Scrutiny of our management and available literature reveals a lack of consensus in the management of extensive cutaneous involvement in HSP.
