Hyper‐immunoglobulin D syndrome with novel mutations in an afebrile infant. Issue 4 (30th March 2018)

• Record Type: Journal Article
• Authors: Cadmus, Simi D.; Green, Reid; Carrasco, Ruy; Levy, Moise L.; Diaz, Lucia Z.
• Is Part Of: Pediatric dermatology. Volume 35:Issue 4(2018)
• Page Start: 482
• Page End: 485
• Publication Date: 2018-03-30
• Subjects: autoinflammatory -- hyper‐IgD -- inflammatory conditions; Pediatric dermatology -- Periodicals; Children -- Diseases -- Periodicals; 618.925
• DOI: 10.1111/pde.13488
• Languages: English
• ISSNs: 0736-8046

Abstract

Abstract: 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 nodules on the face and extremities. Subsequent examination revealed hyper‐immunoglobulin D syndrome with two novel allelic mutations in the mevalonate kinase gene: c.895G > A (p.D299N) and c.1168C > T (p.Q390). It is important for dermatologists to recognize the varied cutaneous presentations of hyper‐immunoglobulin D syndrome because rapid diagnosis and treatment can significantly affect outcomes.