Case Report of Xeroderma Pigmentosum of A 67- Year- Old Patient

Abstract

Introduction: Xeroderma pigmentosum (XP) is a rare autosomal recessive genodermatosis characterized by severe photosensitivity, skin pigmentary changes, malignant tumor development, and occasionally progressive neurologic degeneration^. The median age of death in patients with XP without neurodegeneration is about 37 years old. The median age of death in patients with XP with neurodegeneration is younger at about 29 years old.

Case Report: A 67-year-old man presented to the Clinic of Dermatology to diagnose a painful nodular hemorrhagic growth on the right shoulder, an eroded hyperpigmented plaque in the right retro auricular region and 3 ulcerated crusted lesions with elevated borders at the frontal and temporal regions. On examination, the patient had diffuse freckle-like pigmentation, xerosis, actinic damage in sun-exposed areas, multiple Actinic Keratoses (AK) and a large scar in the lumbar region, resulting from the excision of a Squamous Cell Carcinoma (SCC) located on that area. He denied early blistering in his childhood, also refereed that due to its condition he had always worked indoor. He also reported being diagnosed with XP at a young age and, since then has been advised by a dermatologist to avoid sun exposure and to undergo regular examinations for any suspicious lesions suggestive for Carcinoma lesions in his body. His neurologic examination was normal and lymph node examination was negative. Dermoscopy of the lesions was performed showing characteristic features for Basal Cell Carcinoma (BCC), SCC and Actinic Keratoses. The lesions were removed surgically and the biopsies confirmed the clinical and dermoscopic diagnoses.

Conclusion: Early detection and proper treatment of XP can prevent the onset of common malignancies and increase the life expectancy of the patients.