Article
Hyper-immunoglobulin D syndrome with novel mutations in an afebrile infant.
Pediatric dermatology - 1 Jul 2018
Cadmus Simi D, Green Reid, Carrasco Ruy, Levy Moise L, Diaz Lucia Z
Abstract excerpt
Hyper-immunoglobulin D syndrome is a rare autosomal-recessive autoinflammatory syndrome in which a mevalonate kinase deficiency results due to mutations of the mevalonate kinase gene. We report a case of an Asian male infant who was found to have hyper-immunoglobulin D syndrome in the absence of fever. His skin manifestations included cephalic pustulosis as well recurrent transient and fixed pink plaques and...
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