As'ad Al-Hamad Dermatology Center, Kuwait.
Pediatr Dermatol. 2022 Jul;39(4):650-652. doi: 10.1111/pde.14961. Epub 2022 Mar 1.
CEDNIK syndrome is a rare autosomal recessive syndrome characterized by cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma of which 25 cases from 19 families have been reported to date. It is a progressive neurodegenerative disorder caused by the loss-of-function pathogenic variant of the SNAP29 gene encoding a member of the SNARE family of proteins. We describe two female siblings from a Syrian parent-related family with CEDNIK syndrome due to homozygous pathogenic variant in SNAP29 [c.223delG(p.Val75Serf*28)]. Palmoplantar keratoderma, reported as a cardinal sign in CEDNIK syndrome, was absent in both patients as of the last follow-up, and one of our patients had a verrucous venous malformation, a finding that has not been previously reported.
CEDNIK 综合征是一种罕见的常染色体隐性遗传综合征，其特征为脑发育不良、神经病、鱼鳞病和角化过度症。迄今为止，已从 19 个家系中报道了 25 例病例。它是一种进行性神经退行性疾病，由 SNARE 家族蛋白成员 SNAP29 基因的功能丧失致病性变异引起。我们描述了一对来自叙利亚亲缘家庭的女性同胞，她们患有 CEDNIK 综合征，这是由于 SNAP29 中的纯合致病性变异引起的[c.223delG(p.Val75Serf*28)]。掌跖角化过度症是 CEDNIK 综合征的一个主要特征，但在两名患者的最后一次随访中均未出现，我们的一名患者还存在疣状静脉畸形，这一发现以前尚未报道过。
