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A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts
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Keratoderma hereditaria mutilans (vohwinkel's syndrome).

S Dayal1, V K Jain, H Singh

  • 1Department of Skin, V.D. and Leprosy, Pt. B.D. Sharma P.G.I.M.S., Rohtak - 124 001, India.

Indian Journal of Dermatology, Venereology and Leprology
|October 15, 2010
PubMed
Summary

Vohwinkel's syndrome, a rare genetic disorder, involves progressive palmoplantar keratoderma and constricting bands. This report details two familial cases, highlighting associated sensorineural deafness.

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Area of Science:

  • Dermatology
  • Genetics
  • Otolaryngology

Background:

  • Vohwinkel's syndrome is a rare genodermatosis characterized by distinct palmoplantar keratoderma and constricting digital bands.
  • Familial occurrence suggests a genetic basis for the syndrome.

Purpose of the Study:

  • To describe the clinical presentation and familial occurrence of Vohwinkel's syndrome.
  • To document the association of sensorineural deafness in affected individuals.

Main Methods:

  • Case report of two patients (son and mother) diagnosed with Vohwinkel's syndrome.
  • Clinical examination focusing on dermatological and audiological findings.

Main Results:

  • Both patients presented with progressive palmoplantar keratoderma exhibiting a 'honeycomb' appearance.
  • Constricting bands encircling digits of hands and feet, along with keratotic plaques on the dorsum, were observed.
  • Both individuals had associated sensorineural deafness.

Conclusions:

  • Vohwinkel's syndrome can present with a characteristic honeycomb palmoplantar keratoderma and constricting bands.
  • The syndrome has a familial pattern, as seen in this son-mother pair.
  • Sensorineural deafness is a significant associated feature that warrants audiological evaluation.