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.
View Article and Find Full Text PDFHenoch-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.
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