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Xeroderma Pigmentosum.

N N Khanna1, V Thakur1, G C Pant1

  • 1Departments of Surgery, Ophthalmology and Radiotherapy, Banaras Hindu University, Varanasi, India.

The Australian and New Zealand Journal of Surgery
|December 22, 2017
PubMed
Summary
This summary is machine-generated.

This study presents five xeroderma pigmentosum cases, noting advanced ocular complications and skin cancers. Reconstructive surgeries using flaps and grafts proved safe and effective for these patients.

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Area of Science:

  • Dermatology
  • Genetics
  • Ophthalmology

Background:

  • Xeroderma pigmentosum (XP) is a rare genetic disorder characterized by extreme sensitivity to ultraviolet radiation.
  • Patients with XP have a significantly increased risk of developing skin cancers and ocular complications.

Purpose of the Study:

  • To report on five cases of xeroderma pigmentosum, including clinical presentations and treatment outcomes.
  • To highlight the occurrence of advanced ocular complications and skin malignancies in XP patients.
  • To document a rare association of dermatofibroma in a patient with XP.

Main Methods:

  • Case series presentation of five patients diagnosed with xeroderma pigmentosum.
  • Review of clinical histories, focusing on ocular and dermatological manifestations.
  • Documentation of treatment modalities for basal cell carcinomata and dermatofibroma.

Main Results:

  • All five patients exhibited advanced ocular complications.
  • Three patients developed multiple basal cell carcinomata, treated with radiotherapy or surgery.
  • One patient presented with a dermatofibroma, a finding not previously reported in association with XP.
  • Surgical reconstruction using flaps and grafts demonstrated satisfactory healing.

Conclusions:

  • Xeroderma pigmentosum patients frequently present with severe ocular issues and skin cancers.
  • Dermatofibroma may occur in association with xeroderma pigmentosum.
  • Reconstructive surgical techniques are safe and effective for managing complications in XP patients.