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Related Experiment Videos

Hereditary palmoplantar keratoderma (four cases in three generations).

V N Sehgal1, S Kumar, S Narayan

  • 1Dermato-Venereology (Skin/VD) Center, Sehgal Nursing Home, Panchwati, Azadpur, Delhi, India. drsehgal@ndf.vsnl.net.in

International Journal of Dermatology
|May 1, 2001
PubMed
Summary

This study describes a rare genetic skin disorder causing progressive thickening and fissuring of the hands and feet, affecting multiple family members. Treatment with itraconazole, vitamin A, and topical agents showed promise for this recalcitrant condition.

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Area of Science:

  • Dermatology
  • Medical Genetics

Background:

  • A 39-year-old man presented with progressive skin thickening and contractures of the hands and feet.
  • The condition, present since infancy, worsened over time, causing pain and difficulty walking.
  • A familial pattern was evident, with the mother and two daughters exhibiting similar symptoms.

Purpose of the Study:

  • To investigate a rare, inherited dermatological condition.
  • To identify the underlying pathological features and potential treatment strategies.

Main Methods:

  • Clinical examination of affected individuals, focusing on palmar and plantar skin morphology.
  • Microscopic analysis of skin scrapings and biopsies, including potassium hydroxide (KOH) preparations and hematoxylin and eosin (H&E) staining.
  • Assessment of treatment response to oral itraconazole, vitamin A, and topical salicylic acid and coal tar preparations.

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Main Results:

  • Physical examination revealed pronounced, well-demarcated yellow, waxy skin thickening on palms and soles, masking creases and causing contractures.
  • Microscopy identified epidermal orthohyperkeratosis, hypergranulosis, acanthosis, and fungal elements (hyphae and spores) in the stratum corneum.
  • Affected individuals demonstrated a consistent pattern of autosomal dominant inheritance.

Conclusions:

  • The case presents a rare inherited disorder of keratinization, potentially with a secondary fungal component.
  • Combined treatment with oral antifungals, vitamin A, and topical agents may be beneficial for recalcitrant cases.
  • Further research is needed to elucidate the exact genetic basis and pathophysiology of this condition.