Desmocollin‐specific antibodies in a patient with Hailey–Hailey disease
Desmocollin‐specific antibodies in a patient with Hailey–Hailey disease
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Hailey-Hailey 病患者体内的桥粒胶蛋白特异性抗体
DOI：
10.1111/bjd.13661
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发表时间：
2015
影响因子：
10.3
通讯作者：
S. Fujiwara
中科院分区：
文献类型：
--
作者：
D. Ueo;N. Ishii;T. Hamada;K. Teye;T. Hashimoto;Y. Hatano;S. Fujiwara
以前很少报告，1例具有影响身体褶皱的特征性皮肤病变，呈近对称分布，与NSDHL中的新型错义突变相关，2例具有对侧线性皮肤病变，1例具有双侧、几乎对称的四肢线性病变。我们的病例证实了这种双侧皮肤表现，强调了显着的家族间和家族内变异，并扩展了CHILD综合征的非皮肤表型。
reported rarely before, once with characteristic skin lesions affecting the body folds in a near-symmetrical distribution, associated with a novel missense mutation in NSDHL, twice with contralateral linear skin lesions, once with bilateral, almost symmetrical, linear lesions on the extremities. Our case confirms this bilateral cutaneous presentation, emphasizes the significant interand intrafamilial variation, and extends the noncutaneous phenotype of CHILD syndrome.