Two infants with blistering rashes originating on acral sites as a presenting sign of infantile bullous pemphigoid
Sign Up to like & getrecommendations! Published in 2020 at "JAAD Case Reports"
DOI: 10.1016/j.jdcr.2020.04.006
Abstract: BP: bullous pemphigoid CBC: complete blood count WBC: white blood cell count INTRODUCTION Bullous pemphigoid (BP) is a rare autoimmune bullous disorder caused by IgG autoantibodies against hemidesmosomes at the dermoepidermal junction. BP typically occurs… read more here.
Keywords: blistering rashes; bullous pemphigoid; two infants; infants blistering ... See more keywords
P89 Sturge-weber syndrome in two infants with different outcome
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DOI: 10.1136/archdischild-2017-313273.177
Abstract: Background and aims Sturge-Weber syndrome is a congenital disorder associating capillary malformations of the face (port-wine birthmark of forehead and/or eyelid) with cerebral leptomeningeal angiomatosis and with glaucoma. When the capillary malformation involves the forehead… read more here.
Keywords: birthmark; sturge weber; weber syndrome; two infants ... See more keywords
Two Infants With Beta-Ketothiolase Deficiency Identified by Newborn Screening in China
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DOI: 10.3389/fgene.2019.00451
Abstract: Beta-ketothiolase deficiency (BKTD) is an autosomal recessive disease caused by a defect of mitochondrial acetoacetyl-CoA thiolase. Beginning in 2014, we carried out newborn screening by tandem mass spectrometry (MS/MS) followed by next-generation sequencing (NGS) and… read more here.
Keywords: two infants; beta ketothiolase; newborn screening; ketothiolase deficiency ... See more keywords