Background Early recognition of xeroderma pigmentosum is important to minimize the
complications arising from the harmful effects of exposure to ultraviolet radiation. This …

DNA damage response is essential to human physiology. A broad spectrum of pathologies
are displayed by individuals carrying monoallelic or biallelic loss-of-function mutations in …

DNA repair syndromes are heterogeneous disorders caused by pathogenic variants in
genes encoding proteins key in DNA replication and/or the cellular response to DNA …

Xeroderma pigmentosum (XP) is characterized by: Acute sun sensitivity (severe sunburn
with blistering, persistent erythema on minimal sun exposure) with marked freckle-like …

Basal cell carcinoma (BCC) is the most frequent cutaneous malignancy worldwide. This skin
tumour is characterized by a broad phenotypic variability and distinct histopathological …

Oral cancer remains one of the most common and challenging malignancies of the head
and neck region. This review summarizes the incidence, prevalence and mortality rates …

This study aimed to map systemic alterations predisposing to oral squamous cell carcinoma
(OSCC) onset. This review was conducted according to the Preferred Reporting Items for …

Abstract Background Bazex–Dupré–Christol syndrome (BDCS) is an X‐linked dominantly
inherited disorder affecting hair follicle structures. Currently, hypotrichosis, follicular …

Several genetic disorders caused by defective nucleotide excision repair that affect the skin
and the nervous system have been described, including Xeroderma Pigmentosum (XP), De …

Background Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder
presenting with an inability to repair UV‐induced DNA damage. This can lead to the …