Xeroderma pigmentosum (XP) is a rare autosomal recessive disease caused an inability to repair DNA pyrimidine dimers caused by ultraviolet (UV) exposure. It was first described in 1874 by Hebra and Kaposi, clinically manifesting as hypersensitivity to sunlight, freckles, and skin cancer, with neurological manifestations described later in 1883. The incidence is highest in Japan at 45 per million, 1 per million in the United States, and 2.3 per million in Western Europe. Both sexes are affected equally by XP [1].

According to Lehmann, there are 8 subtypes of XP:

XP type: XP-A

Gene/locus: XPA / 9q22.3

Clinical presentation: 25% of the patients with XP. Most serious form of the disease. Patients present a diverse range of symptoms, including the development of numerous skin cancers at an early age and serious neurological abnormalities.

XP type: XP-B

Gene/locus: XPB (ERCC3) / 2q21

Clinical presentation: Least frequent of the XP types. Increased sensitivity to UV light. Patients may develop numerous skin cancers at an early age, some mild neurological abnormalities 

and they can present characteristics of Cockayne syndrome.

XP type: XP-C

Gene/locus: XPC / 3p25

Clinical presentation: 25% of the patients with XP the most frequent form in the Caucasian population. Considered as the classical form of XP. It is the variant with the highest capability to repair DNA even it shows increased sensitivity to UV exposure. Patients may develop severely atypical and dense lentigines at exposed areas as well as ocular anomalies but no neurological abnormalities.

XP type: XP-D

Gene/locus: XPD (ERCC2) / 19q13.2-q13.3

Clinical presentation: 15% of the patients with XP. It presents with increased sensitivity to UV light. Patients may develop numerous skin cancers at an early age. They may present in some cases severe neurological defects with progressive degeneration such as sensorineural deafness, ataxia and mental retardation.

XP type: XP-E

Gene/locus: XPE (DDB2) / 11p11-p12; 11q12-q13

Clinical presentation: Low frequency. The least aggressive form of XP. It is limited to skin problems. Patients present the development of cutaneous cancers at a later age, and they do not present neurological symptoms.

XP type: XP-F

Gene/locus: XPF (ERCC4) / 16p13.3

Clinical presentation: Low frequency. A less aggressive form of XP, most of the cases in the Japanese population. Development of cutaneous cancers at a later age with no neurological nor ocular symptoms.

XP type: XP-G

Gene/locus: XPG (ERCC5) / 13q32-q33

Clinical presentation: Low frequency but aggressive with increased sensitivity to UV light. Development of numerous skin cancers at an early age and neurological abnormalities in some cases.

XP type: XP-variant

Gene/locus: XPG (ERCC5) / 13q32-q33

Clinical presentation: Low frequency but aggressive with increased sensitivity to UV light. Development of numerous skin cancers at an early age and neurological abnormalities in some cases.

Most patients (especially the A, B, G and G subtypes) present within the first few years of life. People suffering from XP show extreme sensitivity to UV radiation with skin lesions mostly in the sun exposed areas such as head, face, and neck. Cutaneous symptoms include excessive freckling, hyper- and hypopigmentation, poikiloderma, skin atrophy and skin aging. Ocular manifestations include photophobia, keratitis, and ectropion [3]. Cutaneous and ocular neoplasia also occur at a very high rate. The median age for first non-melanoma skin cancer is nine, the median age for development of first malignant melanoma is 22 [4]. Most patients require multiple surgeries for removal of skin and ocular lesions, and malignancies. About 20-30% of the patients may also have progressive neurologic degeneration characterized by premature neuronal death, progressive mental retardation, hyper- or hyporeflexia, hearing loss, motor deficits, cognitive dysfunction, and cerebellar dysfunction [3,5,6].

Major anesthetic concerns include difficult intravenous cannulations, difficult bag-mask ventilation and intubation, neurological deterioration with volatile agents, increased sensitivity to opioids, benzodiazepines, and muscle relaxants, and difficult extubation.