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Variant of Vohwinkel's syndrome

Mir Mubashir Ali1, Gatha M Upadya

  • 1Department of Dermatology, Kasturba Medical College Hospital, Attavar, Mangalore, India.

Indian Journal of Dermatology, Venereology and Leprology
|December 21, 2006
PubMed

Insights

This study details a rare case of progressive palmoplantar keratoderma and constricting band syndrome in a young woman. Genetic analysis ruled out loricrin mutations, suggesting other genetic factors may be involved.

Area of Science:

  • Dermatology
  • Medical Genetics

Background:

  • Palmoplantar keratoderma (PPK) is a group of inherited skin disorders characterized by thickening of the palms and soles.
  • Constricting band syndrome involves amniotic bands that can cause digital deformities.

Observation:

  • A 28-year-old female with a family history of similar symptoms presented with progressive PPK since infancy and a constricting band on her finger.
  • Clinical features included starfish-shaped plaques on knuckles, distal phalangeal resorption, and keratotic plaques on elbows, groins, and knees.
  • The patient exhibited normal mental status and hearing.

Findings:

  • Histopathological examination of hyperkeratotic plaques revealed hyperkeratosis, parakeratosis, an increased granular layer, and papillomatosis.
  • Genetic mapping for loricrin mutations, a known cause of some keratodermas, was negative in this patient.

Implications:

  • This case highlights a rare presentation of PPK and constricting band syndrome.
  • The negative loricrin mutation results suggest the need for further investigation into other genetic loci or novel gene mutations responsible for this condition.
  • Understanding the genetic basis is crucial for accurate diagnosis and potential therapeutic strategies for inherited palmoplantar keratoderma.

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