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Hyper‐immunoglobulin D syndrome with novel mutations in an afebrile infant
Author(s) -
Cadmus Simi D.,
Green Reid,
Carrasco Ruy,
Levy Moise L.,
Diaz Lucia Z.
Publication year - 2018
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/pde.13488
Subject(s) - medicine , antibody , immunoglobulin g , immunology , down syndrome , allele , immunoglobulin m , gene , genetics , biology , psychiatry
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.