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Keywords

basal cell carcinoma, consanguinity, malignancy, pigmentation, skin, squamous cell carcinoma, xeroderma pigmentosum

 

Authors

  1. Khan, Mumtaz Ali MD, MsPH, MS, MSc, MPH
  2. Akbar, Nighat MBBS, MRCP
  3. Saeed, Asim MBBS, MPhil
  4. Amir, Afreenish MBBS, MPhil, PhD
  5. Ikram, Aamer MBBS, DCP, MCPS, FCPS, PhD
  6. Saleem, Zikria PharmD, MPhil, PhD

Abstract

ABSTRACT: Xeroderma pigmentosum (XP) is an autosomal recessive condition characterized by an extreme sensitivity to UV rays from sunlight. It presents clinically with progressive pigmentary abnormalities and an increased incidence of skin and mucous membrane cancers at sun-exposed sites. Parental consanguinity is a significant risk factor.

 

Previously, cases of XP have been reported from various regions of Pakistan including Larkana, Sibbi, Karachi, Lahore, and District Dir in 1993, 2009, and 2010. Genetic studies have been conducted on seven consanguineous families with XP belonging to the Khosa tribe of Baloch ethnicity. In May 2018, XP was reported in four siblings in a family from a small village in Sindh Province, Pakistan.

 

Current surveillance has been carried out in the tribal village of Lundi Khosa, District Kachhi at Baluchistan, Pakistan. The disease has been endemic in the tribe since 1986, although it was brought under control in the last few years. This case report describes five patients (aged 3-12 years) with XP who have developed nonmelanoma skin malignancies.