Bondeson Marie-Louise, Nyström Anna-Maja, Gunnarsson Ulrika, Vahlquist Anders
Department of Genetics and Pathology, University of Uppsala, Sweden.
Acta Derm Venereol. 2006;86(6):503-8. doi: 10.2340/00015555-0164.
Neuroectodermal syndromes involving the skin and inner ear may be associated with mutations in connexin proteins, which form gap junctions important for intercellular communication. Vohwinkel syndrome (keratodermia mutilans with hearing loss) and keratitis-ichthyosis-deafness (KID) syndrome are rare ectodermal dysplasias associated with dominant mutations in the GJB2 gene encoding connexin 26. We report here two patients, one with KID and one with Vohwinkel syndrome. Both displayed unusual clinical features and responded well to long-term treatment with oral retinoid. Mutation analysis revealed a novel GJB2 mutation p.Gly59Ser in the patient with Vohwinkel syndrome, whereas a recurrent mutation p.Asp50Asn was found in the patient with KID syndrome. The clinical features, particularly a proneness to skin cancer in the patient with Vohwinkel syndrome, are discussed in relation to the identified genotypes.
累及皮肤和内耳的神经外胚层综合征可能与连接蛋白的突变有关，连接蛋白形成对细胞间通讯很重要的间隙连接。Vohwinkel综合征（伴有听力丧失的残毁性角皮症）和角膜炎-鱼鳞病-耳聋（KID）综合征是罕见的外胚层发育不良，与编码连接蛋白26的GJB2基因的显性突变有关。我们在此报告两名患者，一名患有KID综合征，一名患有Vohwinkel综合征。两人均表现出不寻常的临床特征，并且对口服维甲酸的长期治疗反应良好。突变分析显示，Vohwinkel综合征患者存在一种新的GJB2突变p.Gly59Ser，而KID综合征患者发现了一种复发突变p.Asp50Asn。结合已确定的基因型，对临床特征进行了讨论，特别是Vohwinkel综合征患者患皮肤癌的倾向。
