Suspected case of stage 3 Xeroderma pigmentosa: a case report

Andrew Odhiambo, Kenneth Kaminja, Titus Munyao



Xeroderma pigmentosum (XP) is a condition inherited as an autosomal recessive trait and is characterized by photosensitivity, pigmentary changes, premature skin ageing and malignant tumour development resulting from a defect in DNA repair. A case of stage 3 Xeroderma pigmentosum affecting a young girl and her siblings is presented. This is a rare medical condition which may cause difficulties in making a timely diagnosis.


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

Tanaka K, Sekiguchi M, Okada Y. Restoration of ultraviolet-induced unscheduled DNA synthesis of xeroderma pigmentosum cells by the concomitant treatment with bacteriophage T4 endonuclease V and HVJ (Sendai virus). Proc Natl Acad Sci USA. Oct 1975;72(10):4071-5.

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

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. Nov 8 2011

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

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.

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

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. Oct 2008;29(10):1194-208.

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

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

Lehmann AR, McGibbon D, Stefanini M. Xeroderma pigmentosum. Orphanet J Rare Dis. Nov 1 2011;6:70

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

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. Dec 2007;27(12):1133-7.

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. Feb 1997;108(2):154-9

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. Jun 23 1988;318(25):1633-7.

Bhutto AM, Shaikh A, Nonaka S: Incidence of xeroderma pigmentosa in Larkana, Pakistan a 7-year study. Br J Dermatol 152: 545e551, 2005 Cleaver JE: Defective repair replication of DNA in xeroderma pigmentosa. Nature 218: 652e656, 1968

Butt F.M.A, Moshi M R, Chindia M L, Journal of Cranio-Maxillo-Facial Surgery (2010)38, 534-537

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