Takahashi H, Ishida-Yamamoto A, Kishi A, Ohara K, Iizuka H
Department of Dermatology, Asahikawa Medical College, Japan.
J Dermatol Sci. 1999 Jan;19(1):44-7. doi: 10.1016/s0923-1811(98)00049-8.
Vohwinkel's syndrome (VS) is a rare, dominantly inherited keratoderma with pseudoainhum. Recently, a mutation in loricrin gene has been reported in two VS families of British extraction. In the present study, we examined the loricrin gene mutation in a Japanese VS patient. The patient was a 20-year-old woman. She had palmoplantar keratoderma, constricting bands encircling all the fingers, fifth toes, wrist, and neck. She also had generalized mild ichthyosis and suffered from acoustic impairment. Her parents and a brother showed no skin abnormality. Histopathology of the patient revealed hyperkeratosis with parakeratosis, together with hypergranulosis. The clinical and histopathological findings were consistent with an ichthyotic (or Camisa) variant of VS. The sequence analysis of the loricrin gene revealed that the patient had a heterozygous mutation identical to that described in previous reports, i.e. a G insertion producing a frameshift at codon 231 with an abnormal C-terminus. These results clearly demonstrate that a common loricrin gene mutation underlies VS in different ethnic groups.
Vohwinkel综合征（VS）是一种罕见的、常染色体显性遗传的伴有假性并指的角化病。最近，在两个英裔VS家系中报道了loricrin基因突变。在本研究中，我们检测了一名日本VS患者的loricrin基因突变。该患者为一名20岁女性。她有掌跖角化病，环绕所有手指、第五趾、手腕和颈部的缩窄带。她还患有全身性轻度鱼鳞病并伴有听力障碍。她的父母和一个兄弟没有皮肤异常。患者的组织病理学检查显示角化过度伴角化不全，同时伴有颗粒层增厚。临床和组织病理学表现与VS的鱼鳞病样（或卡米萨）变型一致。loricrin基因的序列分析显示，该患者有一个与先前报道相同的杂合突变，即一个G插入导致第231密码子移码并产生异常的C末端。这些结果清楚地表明，不同种族的VS都存在一个常见的loricrin基因突变。
