Aksoylar Serap, Aydinok Yeşim, Serdaroğlu Erkin, Coker Mahmut, Ozdemir Fezal, Ozkinay Ferda
Departments of Pediatrics, Ege University Medical School, Izmir, Turkey.
J Pediatr Endocrinol Metab. 2004 Jul;17(7):1031-4. doi: 10.1515/jpem.2004.17.7.1031.
HDR syndrome is a newly recognized very rare syndrome defined by the combination of hypoparathyroidism, renal dysplasia and sensorineural deafness. Haplo-insufficiency of the GATA3 gene is the underlying mechanism of the HDR syndrome. Here we report a 16 year-old girl with HDR syndrome who presented with generalized psoriasis, which is an unusual presentation. Skin lesions rapidly disappeared after replacement therapy with calcium. It is suggested that generalized psoriasis might have been induced by hypocalcemia due to hypoparathyroidism associated with HDR syndrome.
HDR综合征是一种新发现的非常罕见的综合征,其定义为甲状旁腺功能减退、肾发育不良和感音神经性耳聋同时出现。GATA3基因的单倍体不足是HDR综合征的潜在发病机制。在此,我们报告一名16岁患有HDR综合征的女孩,她出现了泛发性银屑病,这是一种不寻常的表现。补钙替代治疗后皮肤损害迅速消失。提示泛发性银屑病可能是由HDR综合征相关的甲状旁腺功能减退导致的低钙血症所诱发。