Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder characterized by deficiency in DNA repair leading to the formation of cutaneous, ocular and neurological due to increased photosensitivity. XP is one of the most serious photosensitivity disorders in which patients are at risk of more than thousands of times higher to develop skin carcinoma than the general population. 

We conducted a descriptive cross-sectional study on  patients in Vietnam who diagnosed XP from 2018 to 2022 to investigate the clinical features and skin carcinoma characteristics of XP. Diagnosis was generally made by history and clinical examination. 36 XP cases were discovered in our study. The appearance time of skin lesions is quite early. People with lesions appearing from 1 month to 24 months of age are 26 people (72%) with the main symptoms: freckles and lentigo with 22 people (55.6%) and sunburn with 15 people (41%). Dry skin lesions (88.6%), and seborrheic keratosis (33.3%) are common. Severe levels of hyperpigmentation (2+ and 3+) are commonly seen in the facial area with rates of 52.8% and 38.9%, respectively. Scar lesions on the upper/lower lip and nose account for 47.2%. Patients with poikiloderma lesions account for 55.6%, actinic keratosis accounts for 66.7%.

Patients diagnosed with basal cell carcinoma accounted for 16.7% (6 people), 2 male patients were diagnosed with squamous cell carcinoma. People with poikiloderma and actinic keratosis are about 4 times more likely to have basal cell carcinoma than people without poikiloderma and actinic keratosis. The clinical manifestations of patients suspected of XP are quite similar to the clinical manifestations of cases that have been diagnosed by genetic analysis from many studies around the world. It is necessary to proactively detect the disease early through family history and clinical manifestations, especially sunburn and skin lesions.