Cadmus Simi D, Green Reid, Carrasco Ruy, Levy Moise L, Diaz Lucia Z
School of Medicine, University of North Carolina, Chapel Hill, NC, USA.
Department of Medicine, Dell Medical School, University of Texas, Austin, TX, USA.
Pediatr Dermatol. 2018 Jul;35(4):482-485. doi: 10.1111/pde.13488. Epub 2018 Mar 30.
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.
高免疫球蛋白D综合征是一种罕见的常染色体隐性自身炎症性综合征，由于甲羟戊酸激酶基因突变导致甲羟戊酸激酶缺乏。我们报告一例亚洲男婴，在无发热情况下被发现患有高免疫球蛋白D综合征。他的皮肤表现包括头部脓疱病以及面部和四肢反复出现的短暂性和持久性粉红色斑块及结节。随后的检查发现高免疫球蛋白D综合征，甲羟戊酸激酶基因存在两个新的等位基因突变：c.895G > A（p.D299N）和c.1168C > T（p.Q390）。皮肤科医生认识高免疫球蛋白D综合征的各种皮肤表现很重要，因为快速诊断和治疗可显著影响预后。
