Xeroderma Pigmentosum with Malignant Cutaneous Tumors in Two Siblings

Abstract

Xeroderma pigmentosum is an autosomal recessive genetic disease that accompanied by abnormalities in deletion and repair of DNA due to enzymatic damage by ultraviolet radiation. It is described by photo hypersensitivity of areas exposed to sun radiation, changes in the skin pigmentation, cutaneous premature aging and increased risk of developing cutaneous and ocular malignant tumors early in life. Most common types of malignant cutaneous tumors detected are basal cell and squamous cell carcinoma and less commonly malignant melanoma. It is very frequent in certain areas of the world, most markedly Middle East, like Egypt and North Africa with positive consanguinity. In patients with Xeroderma pigmentosum prior to the age of 20 years, the risk of developing skin cancer is several thousand times greater. In patients with XP for non-melanoma skin cancers, the median age of onset is eight years relative to the non-XP population with a median age of onset of sixty years. This research study presents two siblings; 18-years-old sister and 16-years-old brother; from relative parents that had xeroderma pigmentosum with development of different malignant skin tumors. Treatment protocol was surgical excision of the malignant tumor with adequate safety margin and removal of enlarged lymph nodes. Reconstruction options were directed mainly to flap surgery. Postoperative follow up reveled no recurrence.