Xerodermia pigmentosum: the importance of early diagnosis

Abstract

Xeroderma pigmentosum is a rare autosomal recessive genodermatosis caused by a defect in nucleotide excision repair. The disease is characterized by increased skin sensitivity after minimal sun exposure. These patients are born with normal appearing skin but develop dermatological changes between the first and second year of life. Xerodermia pigmentosum presents with changes in skin pigmentation in a freckle-like distribution. In addition, patients will present with poikiloderma, xerosis, skin atrophy, lentigines, actinic keratosis and telangiectasias. The main complications of the disease are premalignant and malignant skin lesions. The most common cause of death is metastatic melanoma or invasive squamous cell carcinoma.

Xeroderma pigmentosum is also associated with ophthalmological, neurodegenerative and endocrine disorders.

There is no curative treatment; management is based on early diagnosis of the disease through the detection of biallelic mutations and the implementation of early protective measures to reduce complications and mortality.