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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.

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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.

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