title: Xeroderma pigmentosa: three new cases with an in depth review of the genetic and clinical characteristics of the disease.
abstract: Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder characterized by hypersensitivity of the skin and eyes to UV-radiation as a result of a defect in one of eight genes. Seven genes (XPA-XPG) have a defect in Nucletoide Excision Repair (NER), while the eighth gene XPV has a defect in polymerase η, which is responsible for replication of UV-damaged DNA to produce corrected daughter strands. We present the varied clinical courses of three African-American female patients with XP. Additionally, we present a review of the literature that focuses on the various clinical manifestations as well as the genetic and molecular mechanisms underlying this disease.
authors.affiliation: 1Children's Healthcare of Atlanta and Emory University School of Medicine , Pediatric Pathology, Atlanta, GA , USA.
authors.forename: Michael
authors.initials: M
authors.lastname: Karass
authors.forename: Mina M
authors.initials: MM
authors.lastname: Naguib
authors.forename: Nancy
authors.initials: N
authors.lastname: Elawabdeh
authors.forename: Caitlin A
authors.initials: CA
authors.lastname: Cundiff
authors.forename: Jenna
authors.initials: J
authors.lastname: Thomason
authors.forename: Charlotte Katherine
authors.initials: CK
authors.lastname: Steelman
authors.forename: Ryan
authors.initials: R
authors.lastname: Cone
authors.forename: Ann
authors.initials: A
authors.lastname: Schwenkter
authors.forename: Caroline
authors.initials: C
authors.lastname: Jordan
authors.forename: Bahig M
authors.initials: BM
authors.lastname: Shehata
mesh_terms: D001921:Brain / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D004249:DNA Damage / Q000235:genetics*; D004260:DNA Repair / Q000235:genetics / Q000502:physiology*; D005260:Female; D006801:Humans; D009154:Mutation / Q000235:genetics; D014983:Xeroderma Pigmentosum / Q000175:diagnosis / Q000235:genetics / Q000473:pathology*
keywords: autosomal recessive; nucleotide excision repair; xeroderma pigmentosum