Xeroderma Pigmentosum: Variable Expressions among Three Siblings

Abstract

Xeroderma pigmentosum is a rare disorder transmitted in an autosomal recessive manner. It is characterized by photosensitivity, pigmentary changes, premature skin aging, and malignant tumor development. The frequency of this disorder is approximately 1 case per 250.000 population. Two important causes of mortality are metastatic malignant melanoma and squamous cell carcinoma. Here xeroderma pigmentosum in three siblings presenting with variable expressions is reported. The seventy of the condition was more in one of the more sun exposed sibling and had more signs of malignant lesions. Intraoral pigmentation was also present in all the three siblings.

Keywords

• XP
• photosensitivity
• pigmentary changes
• premature skin aging
• malignant tumors
• defective nucleotide excision repair
• siblings