This Article  • Full text  • PDF  • Send to a friend  • Save in My Folder  • Save to citation manager  • Permissions  Citing Articles  • Citation map  • Contact me when this article is cited  Related Content  • Similar articles in this journal  Topic Collections  • Oncology  • Skin Cancer  • Dermatology  • Dermatologic Disorders  • Neoplasms  • Dermatologic Disorders, Other  • Genetics  • Genetic Disorders  • Alert me on articles by topic  Social Bookmarking   What's this?

Stéphanie Christen-Zaech, MD; Kyoko Imoto, MD, PhD; Sikandar G. Khan, PhD; Kyu-Seon Oh, PhD; Deborah Tamura, RN, MS; John J. DiGiovanna, MD; Jennifer Boyle, PhD; Nickolas J. Patronas, MD; Raphael Schiffmann, MD; Kenneth H. Kraemer, MD; Amy S. Paller, MD

Arch Dermatol. 2009;145(11):1285-1291.

Background  Xeroderma pigmentosum (XP) is a rare autosomal recessive disorder characterized by a decreased ability to repair DNA damaged by UV radiation and the early development of cutaneous and ocular malignant neoplasms. Approximately 20% of patients with XP also develop progressive neurologic degeneration.

Observations  We describe a boy who was found to have XP after a severe burn following minimal sun exposure. His maternal uncle, now age 20 years, had been diagnosed with XP after a similar sunburn in infancy. The uncle has the typical skin pigmentary findings of XP along with severe progressive neurologic involvement. Although the infant's parents were not known to be blood relatives, the infant and his affected uncle proved to be compound heterozygotes for the same 2 frameshift mutations in the XPA DNA repair gene (c.288delT and c.349_353del). After the diagnosis of XP in the infant, genealogic investigation identified a common Dutch ancestor for both of his grandfathers 5 generations back.

Conclusions  Counseling families at risk for a rare inherited disease is not always straightforward. The sociocultural and demographic backgrounds of the families must be considered for evaluation of risk assessment.

Author Affiliations: Departments of Dermatology and Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, Illinois (Drs Christen-Zaech and Paller); DNA Repair Section, Basic Research Laboratory, Center for Cancer Research, National Cancer Institute, Bethesda, Maryland (Drs Imoto, Khan, Oh, DiGiovanna, Boyle, and Kraemer and Ms Tamura); Division of Dermatopharmacology, Department of Dermatology, The Warren Alpert Medical School of Brown University, Providence, Rhode Island (Dr DiGiovanna); Department of Radiology, Clinical Center (Dr Patronas), and National Institute of Neurological Diseases and Stroke (Dr Schiffmann), National Institutes of Health, Bethesda. Dr Christen-Zaech is now with the Department of Dermatology, University Hospital Lausanne, Lausanne, Switzerland; Dr Imoto is now with the Department of Dermatology, Nara Medical School, Nara, Japan; Dr Boyle is now with the National Institute for Biological Standards and Control, South Mimms, Hertfordshire, England; and Dr Schiffmann is now with the Institute of Metabolic Disease, Baylor Research Institute, Dallas, Texas.

CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    Twitter     What's this?