Lambert D, Nivelon-Chevallier A, Chapuis J L
J Genet Hum. 1978 Mar;26(1):25-31.
The authors report a new case of sclero-atrophic keratodermal genodermatosis of the extremities, which is frequently degenerative. This condition, described by Huriez et al. in 1967, is characterized by symmetric lesions of the hands and feet, sclerodactyly, keratodermia, onychopathy and hypohidrosis. This disease, which is of dominant autosomal transmission, is associated with the MNSs trait, the two genes being probably located on chromosome No. 2.
作者报告了一例新的四肢硬化萎缩性角化性遗传性皮肤病病例,该病常呈进行性。这种疾病由Huriez等人于1967年描述,其特征为手足对称病变、指(趾)硬化、角化皮病、甲病和少汗症。这种常染色体显性遗传疾病与MNSs性状相关,这两个基因可能位于2号染色体上。