Systemic lupus erythematosus (SLE) is a chronic autoimmune disease affecting multiple systems by the process of inflammation and formation of auto-antibodies. When it presents in childhood, it is referred to as childhood systemic lupus erythematosus (cSLE). Cardiac tamponade is a rare but potentially lethal complication of cSLE, even rarer as an initial presentation.
View Article and Find Full Text PDFVariegate porphyria (VP) is one of the groups of rare inherited disorders of hemoglobin synthesis called Porphyria. It has two distinct manifestations, that is, those of cutaneous and nervous system. Posterior reversible encephalopathy syndrome (PRES) is a rare complication of porphyria.
View Article and Find Full Text PDFH syndrome (histiocytosis lymph adenopathy plus syndrome) is an autosomal recessive disorder caused by mutations in the SLC29A3 gene, encoding the human equilibrative nucleoside transporter (hENT3), characterized by cutaneous hyperpigmentation and hypertrichosis, hepatosplenomegaly, hearing loss, heart anomalies, hypogonadism, low height, hyperglycemia/insulin-dependent diabetes mellitus, and hallux valgus/flexion contractures. Exophthalmos, malabsorption, renal anomalies, flexion contractions of interphalangeal joints and hallux valgus, and lytic bone lesions, as well as osteosclerosis, are also seen. If these are lacking, the constellation of additional findings should raise suspicion for H syndrome.
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