Neoh Ching Yin, Chen Huijia, Ng See Ket, Lane Ellen Birgitte, Common John Edmund Armourer
National Skin Center, Institute of Medical Biology, 1 Mandalay Road, Singapore.
Int J Dermatol. 2009 Oct;48(10):1078-81. doi: 10.1111/j.1365-4632.2009.04136.x.
Keratitis-ichthyosis-deafness (KID) syndrome is a rare ectodermal dysplasia characterized by generalized erythrokeratotic plaques, sensorineural hearing loss, and vascularizing keratitis. Cutaneous changes and hearing loss typically present in early childhood, whereas ocular symptoms present later. Mutations in the connexin (Cx) 26 gene, GJB2, are now established to underlie many of the affected cases, with the majority of patients harboring the p.D50N mutation.
A rare patient demonstrating features of incomplete KID syndrome associated with an uncommon Cx26 gene mutation is described.
The patient presented late in adolescence with partial features of KID syndrome. There was limited cutaneous involvement and the rare association of cystic acne. Both hearing impairment and ophthalmic involvement were mild in severity. Genetic mutation analysis revealed a previously described, rare mutation in GJB2, resulting in a glycine to arginine change at codon 12 (p.G12R).
This report describes a patient exhibiting characteristics suggestive of a late-onset, incomplete form of KID syndrome with the GJB2 mutation (p.G12R). The p.G12R mutation has only been described in one other patient with KID syndrome, whose clinical presentation was not characterized.
角膜炎-鱼鳞病-耳聋（KID）综合征是一种罕见的外胚层发育不良，其特征为全身性红斑角化性斑块、感音神经性听力损失和血管化角膜炎。皮肤改变和听力损失通常在儿童早期出现，而眼部症状出现较晚。现已确定连接蛋白（Cx）26基因GJB2中的突变是许多受累病例的病因，大多数患者携带p.D50N突变。
描述了一名罕见患者，其表现出不完全KID综合征的特征，并伴有一种罕见的Cx26基因突变。
该患者在青春期后期出现，具有KID综合征的部分特征。皮肤受累有限，伴有罕见的囊性痤疮。听力障碍和眼部受累程度均较轻。基因突变分析显示GJB2中存在一种先前描述的罕见突变，导致第12密码子处甘氨酸变为精氨酸（p.G12R）。
本报告描述了一名患者，其表现出提示迟发性、不完全型KID综合征且伴有GJB2突变（p.G12R）的特征。p.G12R突变仅在另一名KID综合征患者中被描述过，其临床表现未作特征描述。
