Jove
Visualize
Contact Us

Related Experiment Videos

Vohwinkel's syndrome in three generations.

R R Solis1, D G Diven, Z Trizna

  • 1Department of Dermatology, University of Texas Medical Branch, Galveston, USA.

Journal of the American Academy of Dermatology
|February 15, 2001
PubMed
Summary

Vohwinkel's syndrome, a genetic skin disorder, involves palmoplantar keratosis and hearing loss. A mutation in the GJB2 gene (connexin26) is linked to impaired skin and inner ear function in affected families.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Objective measurement of erythema in psoriasis using digital color photography with color calibration.

Skin research and technology : official journal of International Society for Bioengineering and the Skin (ISBS) [and] International Society for Digital Imaging of Skin (ISDIS) [and] International Society for Skin Imaging (ISSI)·2015
Same author

Serving the underserved: creating a low-cost sunscreen with natural ingredients for humanitarian medical trips to the developing world.

The British journal of dermatology·2014
Same author

Cytogenetic studies on the in-vitro genotoxicity of 4-nitroquinoline-1-oxide on human-lymphocytes.

International journal of oncology·2011
Same author

Differential sensitivity among 3 human subpopulations in response to 4-nitroquinoline-1-oxide and to bleomycin.

International journal of oncology·2011
Same author

Additive inhibitory effects of retinoids and interferon-alpha on the growth of human cervical carcinoma cells.

International journal of oncology·2011
Same author

Verrucous herpes of the scrotum in a human immunodeficiency virus-positive man: case report and review of the literature.

Journal of the European Academy of Dermatology and Venereology : JEADV·2002
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Area of Science:

  • Genetics
  • Dermatology
  • Otolaryngology

Background:

  • Vohwinkel's syndrome, or keratoderma hereditaria mutilans, is characterized by diffuse, honeycombed palmar and plantar keratosis.
  • It is often associated with pseudoainhum near distal interphalangeal creases.

Observation:

  • This case series describes a patient presenting with Vohwinkel's syndrome and high-frequency sensorineural hearing loss.
  • The patient's mother and son exhibited similar symptoms, indicating a familial pattern.

Findings:

  • The study posits a genetic etiology for Vohwinkel's syndrome with sensorineural hearing loss, specifically a mutation in the GJB2 gene.
  • This mutation affects the gap junction protein connexin26 (Cx26), leading to impaired epidermal differentiation and inner ear function.

Implications:

  • Understanding the genetic basis of Vohwinkel's syndrome can aid in early diagnosis and genetic counseling.
  • Further research into connexin26 function may reveal therapeutic targets for both skin and hearing disorders.

Related Experiment Videos