Medscape is available in 5 Language Editions – Choose your Edition here.


Xeroderma Pigmentosum Clinical Presentation

  • Author: Linda J Fromm, MD, MA, FAAD; Chief Editor: William D James, MD  more...
Updated: Jun 10, 2016


A history of severe persistent sunburn can be found in many patients. The history should focus on the relationship of the eruption to sun exposure, with a careful determination of its time course and morphology.[14]

As with most autosomal recessive disorders, usually no family history is present; the parents, being heterozygotes, are healthy. Additionally, a history of consanguinity may be elicited.



The disease typically passes through 3 stages.[15] The skin is healthy at birth. Typically, the first stage appears after age 6 months. This stage is characterized by diffuse erythema, scaling, and frecklelike areas of increased pigmentation (see following image). These findings, as would be expected from the pathophysiologic basis for the disease, are seen over light-exposed areas, appearing initially on the face. With progression of the disease, the skin changes appear on the lower legs, the neck, and even the trunk in extreme cases. While these features tend to diminish during the winter months with decreased sun exposure, as time passes, these findings become permanent.

Face of a toddler with xeroderma pigmentosum, repr Face of a toddler with xeroderma pigmentosum, representative of an early stage of the disease. Note the freckling and the scaling. Courtesy of Neil S. Prose, MD, Duke University Medical Center, Durham, North Carolina.

The second stage is characterized by poikiloderma. Poikiloderma consists of skin atrophy, telangiectasias, and mottled hyperpigmentation and hypopigmentation, giving rise to an appearance similar to that of chronic radiodermatitis (see following image). Although telangiectasias also occur in the sun-exposed areas, they have been reported to arise in unexposed skin and even buccal mucosa.

Back of an adolescent with xeroderma pigmentosum, Back of an adolescent with xeroderma pigmentosum, representing a later stage of the disease. Note the mottled hyperpigmentation and atrophy. Courtesy of Neil S. Prose, MD, Duke University Medical Center, Durham, North Carolina.

The third stage is heralded by the appearance of numerous malignancies, including squamous cell carcinomas, malignant melanoma, basal cell carcinoma,[16] and fibrosarcoma. These malignancies may occur as early as age 4-5 years and are more prevalent in sun-exposed areas.

Photosensitivity should be suspected and evaluated in any patient with intermittent or persistent abnormalities on light-exposed areas. Photosensitivity in xeroderma pigmentosum is variable, but it generally occurs in the range of 290-320 nm. The minimal erythema dose is lower than normal at most wavelengths. In xeroderma pigmentosum, the photosensitivity is acute in nature. The action spectrum for elicitation of the photosensitivity may be suggested by the seasonal or diurnal variability of the eruption and by any protective effect of window glass or sunscreens.

Ocular problems[17] occur in nearly 80% of individuals with xeroderma pigmentosum. The initial problems include photophobia and conjunctivitis. Eyelid solar lentigines occur during the first decade of life, and they might transform into malignant melanoma. Ectropion, symblepharon with ulceration, repeated conjunctival inflammation, infections, and scarring might develop in these patients. In addition, vascular pterygia; fibrovascular pannus of the cornea; and epitheliomas of the lids, the conjunctivae, and the cornea can occur. Finally, the propensity for malignancies, such as squamous cell carcinoma, basal cell carcinoma, sebaceous cell carcinoma, and fibrosarcoma, can also involve the eyes of patients with xeroderma pigmentosum.

Neurologic problems[17] are seen in nearly 20% of patients with xeroderma pigmentosum, more commonly in groups XPA and XPD. The severity of these problems is proportional to the sensitivity of xeroderma pigmentosum fibroblasts to UV radiation. The problems include microcephaly, spasticity, hyporeflexia or areflexia, ataxia, chorea, motor neuron signs or segmental demyelination, sensorineural deafness, supranuclear ophthalmoplegia, and mental retardation. The neurologic problems might overshadow the cutaneous manifestations in some patients with xeroderma pigmentosum. De Sanctis-Cacchione syndrome refers to the combination of xeroderma pigmentosum and neurologic abnormalities (including mental retardation and cerebellar ataxia), hypogonadism, and dwarfism.

The Medscape Reference article Neurologic Manifestations of Xeroderma Pigmentosum may be of interest.



See Pathophysiology.

Contributor Information and Disclosures

Linda J Fromm, MD, MA, FAAD Private Practice, Fromm Dermatology at Health Concepts, Rapid City, South Dakota

Linda J Fromm, MD, MA, FAAD is a member of the following medical societies: American Academy of Dermatology

Disclosure: Nothing to disclose.

Specialty Editor Board

Richard P Vinson, MD Assistant Clinical Professor, Department of Dermatology, Texas Tech University Health Sciences Center, Paul L Foster School of Medicine; Consulting Staff, Mountain View Dermatology, PA

Richard P Vinson, MD is a member of the following medical societies: American Academy of Dermatology, Texas Medical Association, Association of Military Dermatologists, Texas Dermatological Society

Disclosure: Nothing to disclose.

Jeffrey J Miller, MD Associate Professor of Dermatology, Pennsylvania State University College of Medicine; Staff Dermatologist, Pennsylvania State Milton S Hershey Medical Center

Jeffrey J Miller, MD is a member of the following medical societies: Alpha Omega Alpha, American Academy of Dermatology, Society for Investigative Dermatology, Association of Professors of Dermatology, North American Hair Research Society

Disclosure: Nothing to disclose.

Chief Editor

William D James, MD Paul R Gross Professor of Dermatology, Vice-Chairman, Residency Program Director, Department of Dermatology, University of Pennsylvania School of Medicine

William D James, MD is a member of the following medical societies: American Academy of Dermatology, Society for Investigative Dermatology

Disclosure: Nothing to disclose.

Additional Contributors

Craig A Elmets, MD Professor and Chair, Department of Dermatology, Director, Chemoprevention Program Director, Comprehensive Cancer Center, UAB Skin Diseases Research Center, University of Alabama at Birmingham School of Medicine

Craig A Elmets, MD is a member of the following medical societies: American Academy of Dermatology, American Association of Immunologists, American College of Physicians, American Federation for Medical Research, Society for Investigative Dermatology

Disclosure: Serve(d) as a director, officer, partner, employee, advisor, consultant or trustee for: University of Alabama at Birmingham; University of Alabama Health Services Foundation<br/>Serve(d) as a speaker or a member of a speakers bureau for: Ferndale Laboratories<br/>Received research grant from: NIH, Veterans Administration, California Grape Assn<br/>Received consulting fee from Astellas for review panel membership; Received salary from Massachusetts Medical Society for employment; Received salary from UpToDate for employment. for: Astellas.

A Hafeez Diwan, MD, PhD Associate Professor, Department of Pathology, University of Texas MD Anderson Cancer Center

A Hafeez Diwan, MD, PhD is a member of the following medical societies: College of American Pathologists, Southern Medical Association

Disclosure: Nothing to disclose.


The authors and editors of Medscape Reference gratefully acknowledge the contributions of previous author Marcelo Horenstein, MD, to the development and writing of this article.

  1. English JS, Swerdlow AJ. The risk of malignant melanoma, internal malignancy and mortality in xeroderma pigmentosum patients. Br J Dermatol. 1987 Oct. 117(4):457-61. [Medline].

  2. DiGiovanna JJ, Kraemer KH. Shining a light on xeroderma pigmentosum. J Invest Dermatol. 2012 Mar. 132(3 Pt 2):785-96. [Medline]. [Full Text].

  3. Warrick E, Garcia M, Chagnoleau C, Chevallier O, Bergoglio V, Sartori D, et al. Preclinical Corrective Gene Transfer in Xeroderma Pigmentosum Human Skin Stem Cells. Mol Ther. 2011 Nov 8. [Medline].

  4. Gratchev A, Strein P, Utikal J, Sergij G. Molecular genetics of Xeroderma pigmentosum variant. Exp Dermatol. 2003 Oct. 12(5):529-36. [Medline].

  5. Ortega-Recalde O, Vergara JI, Fonseca DJ, Ríos X, Mosquera H, Bermúdez OM, et al. Whole-exome sequencing enables rapid determination of xeroderma pigmentosum molecular etiology. PLoS One. 2013. 8(6):e64692. [Medline]. [Full Text].

  6. Nouspikel T. Nucleotide excision repair and neurological diseases. DNA Repair (Amst). 2008 Jul 1. 7(7):1155-67. [Medline].

  7. Boyle J, Ueda T, Oh KS, Imoto K, Tamura D, Jagdeo J, et al. Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophy. Hum Mutat. 2008 Oct. 29(10):1194-208. [Medline].

  8. Bowden NA, Beveridge NJ, Ashton KA, Baines KJ, Scott RJ. Understanding Xeroderma Pigmentosum Complementation Groups Using Gene Expression Profiling after UV-Light Exposure. Int J Mol Sci. 2015 Jul 14. 16 (7):15985-96. [Medline].

  9. Fréchet M, Warrick E, Vioux C, Chevallier O, Spatz A, Benhamou S, et al. Overexpression of matrix metalloproteinase 1 in dermal fibroblasts from DNA repair-deficient/cancer-prone xeroderma pigmentosum group C patients. Oncogene. 2008 Sep 4. 27(39):5223-32. [Medline].

  10. Parlanti E, Pietraforte D, Iorio E, Visentin S, De Nuccio C, Zijno A, et al. An altered redox balance and increased genetic instability characterize primary fibroblasts derived from xeroderma pigmentosum group A patients. Mutat Res. 2015 Oct 23. 782:34-43. [Medline].

  11. Ito S, Kuraoka I, Chymkowitch P, Compe E, Takedachi A, Ishigami C, et al. XPG stabilizes TFIIH, allowing transactivation of nuclear receptors: implications for Cockayne syndrome in XP-G/CS patients. Mol Cell. 2007 Apr 27. 26(2):231-43. [Medline].

  12. Niedernhofer LJ. Tissue-specific accelerated aging in nucleotide excision repair deficiency. Mech Ageing Dev. 2008 Jul-Aug. 129(7-8):408-15. [Medline].

  13. Schaffer JV, Orlow SJ. Radiation Therapy for High-Risk Squamous Cell Carcinomas in Patients with Xeroderma Pigmentosum: Report of Two Cases and Review of the Literature. Dermatology. 2011 Oct 21. [Medline].

  14. Sethi M, Lehmann AR, Fawcett H, Stefanini M, Jaspers N, Mullard K, et al. Patients with xeroderma pigmentosum complementation groups C, E and V do not have abnormal sunburn reactions. Br J Dermatol. 2013 Jul 25. [Medline].

  15. Lehmann AR, McGibbon D, Stefanini M. Xeroderma pigmentosum. Orphanet J Rare Dis. 2011 Nov 1. 6:70. [Medline]. [Full Text].

  16. Lasso JM, Yordanov YP, Pinilla C, Shef A. Invasive basal cell carcinoma in a xeroderma pigmentosum patient: facing secondary and tertiary aggressive recurrences. J Craniofac Surg. 2014 Jul. 25 (4):e336-8. [Medline].

  17. Kraemer KH, Lee MM, Scotto J. Xeroderma pigmentosum. Cutaneous, ocular, and neurologic abnormalities in 830 published cases. Arch Dermatol. 1987 Feb. 123(2):241-50. [Medline].

  18. Kleijer WJ, van der Sterre ML, Garritsen VH, Raams A, Jaspers NG. Prenatal diagnosis of xeroderma pigmentosum and trichothiodystrophy in 76 pregnancies at risk. Prenat Diagn. 2007 Dec. 27(12):1133-7. [Medline].

  19. Alapetite C, Benoit A, Moustacchi E, Sarasin A. The comet assay as a repair test for prenatal diagnosis of Xeroderma pigmentosum and trichothiodystrophy. J Invest Dermatol. 1997 Feb. 108(2):154-9. [Medline].

  20. Kraemer KH, DiGiovanna JJ, Moshell AN, Tarone RE, Peck GL. Prevention of skin cancer in xeroderma pigmentosum with the use of oral isotretinoin. N Engl J Med. 1988 Jun 23. 318(25):1633-7. [Medline].

  21. Giannotti B, Vanzi L, Difonzo EM, Pimpinelli N. The treatment of basal cell carcinomas in a patient with xeroderma pigmentosum with a combination of imiquimod 5% cream and oral acitretin. Clin Exp Dermatol. 2003 Nov. 28 Suppl 1:33-5. [Medline].

Face of a toddler with xeroderma pigmentosum, representative of an early stage of the disease. Note the freckling and the scaling. Courtesy of Neil S. Prose, MD, Duke University Medical Center, Durham, North Carolina.
Back of an adolescent with xeroderma pigmentosum, representing a later stage of the disease. Note the mottled hyperpigmentation and atrophy. Courtesy of Neil S. Prose, MD, Duke University Medical Center, Durham, North Carolina.
Histologic features of actinic keratosis in an individual with xeroderma pigmentosum. Note the atypia of the keratinocytes and the parakeratosis.
All material on this website is protected by copyright, Copyright © 1994-2016 by WebMD LLC. This website also contains material copyrighted by 3rd parties.