Dermatologica Sinica

CASE REPORT
Year
: 2020  |  Volume : 38  |  Issue : 4  |  Page : 228--231

Vohwinkel syndrome associated with a p.Gly59Arg missense mutation in GJB2


Paul-Chen Hsieh1, Chen-Chi Wu2, Ni-Chung Lee3, Jung-Hsien Hsieh4, Yi-Hua Liao5 
1 Department of Dermatology, National Taiwan University Hospital, Taipei, Taiwan
2 Department of Otolaryngology; Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan
3 Department of Medical Genetics, National Taiwan University Hospital; Department of Pediatrics, National Taiwan University Hospital and National Taiwan University College of Medicine, Taipei, Taiwan
4 Department of Surgery, National Taiwan University Hospital, Taipei, Taiwan
5 Department of Dermatology, National Taiwan University Hospital; Department of Dermatology, National Taiwan University College of Medicine, Taipei, Taiwan

Correspondence Address:
Dr. Yi-Hua Liao
Department of Dermatology, National Taiwan University Hospital, Taipei, Taiwan, No. 7, Chung-Shan South Road, Taipei 10002
Taiwan

Vohwinkel syndrome is a rare autosomal dominant disease caused by GJB2 mutations. Patients present with sensorineural deafness, pseudoainhum, stellate keratosis on knuckles, and diffuse honeycombed palmoplantar keratoderma. We present a case of a Taiwanese patient with characteristics of Vohwinkel syndrome. A heterozygous missense mutation c.175G > C (p.Gly59Arg) was identified in the GJB2 gene, encoding the gap junction protein connexin 26. Pathogenic GJB2 mutations have been implicated in a spectrum of diseases from nonsyndromic hearing loss to syndromic hearing loss with palmoplantar keratoderma. This report expands the phenotypic spectrum of the p.Gly59Arg mutation to include Vohwinkel syndrome.


How to cite this article:
Hsieh PC, Wu CC, Lee NC, Hsieh JH, Liao YH. Vohwinkel syndrome associated with a p.Gly59Arg missense mutation in GJB2.Dermatol Sin 2020;38:228-231


How to cite this URL:
Hsieh PC, Wu CC, Lee NC, Hsieh JH, Liao YH. Vohwinkel syndrome associated with a p.Gly59Arg missense mutation in GJB2. Dermatol Sin [serial online] 2020 [cited 2021 Jul 25 ];38:228-231
Available from: https://www.dermsinica.org/article.asp?issn=1027-8117;year=2020;volume=38;issue=4;spage=228;epage=231;aulast=Hsieh;type=0