Abstract
Xeroderma pigmentosum (XP) was first described in 1874 by Hebra and Kaposi. Albert Neisser was the first to report neurological abnormalities associated with XP in 1883. XP is an autosomal recessive disease with defective nucleotide excision repair (NER). It is characterized by easily recognizable clinical hallmarks (Table 1). These manifestations are due to cellular hypersensitivity to ultraviolet (UV) radiation resulting from a defect in DNA repair. Two types of NER exist: global genome (GG-NER) and transcription coupled (TC-NER). Eight complementation groups, XPA-XPG, corresponding to defects in the corresponding gene products of XPA-XPG genes and XP-variant, have been described. These entities occur with different frequencies (e.g., XPA is relatively common, whereas XPE is fairly rare) and they differ with respect to disease severity (e.g., XPG is severe, whereas XPF is mild) and involvement of skin, central nervous system and opthalmological manifestations (Table 2). Cockayne syndrome rarely occurs to gether with XPB, XPD and XPG.
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References
Jimbo T, Ichihashi M, Mishima Y et al. Role of excision repair in UVB-induced depletion and recovery of human epidermal Langerhans cells. Arch Dermatol 1992;128:61–67.
Kraemer KH, Lee MM, Scotto J. Xeroderma pigmentosum. Cutaneous, ocular and neurologic abnormalities in 830 published cases. Arch Dermatol 1987;123:241–250.
Goyal JL, Rao VA, Srinivasan R et al. Oculocutaneous manifestations in xeroderma pigmentosa. Br J Ophthalmol 1994;78:295–297.
English JS, Swerdlow AJ. The risk of malignant melanoma, internal malignancy and mortality in xeroderma pigmentosum patients. Br J Dermatol 1987;117:457–461.
Kobayashi M, Satoh Y, Irimajiri T et al. Skin tumors of xeroderma pigmentosum (I). J Dermatol 1982;9:319–322.
Kraemer KH, Lee MM, Scotto J. Early onset of skin and oral cavity neoplasms in xeroderma pigmentosum. Lancet 1982;1:56–57.
van Steeg H, Mullenders LH, Vijg J. Mutagenesis and carcinogenesis in nucleotide excision repair-deficient XPA knock out mice. Mutat Res 2000;450:167–180.
Morison WL, Bucana C, Hashem N et al. Impaired immune function in patients with xeroderma pigmentosum. Cancer Res 1985;45:3929–3931.
De Silva BD, Nawroz I, Doherty VR. Angiosarcoma of the head and neck associated with xeroderma pigmentosum variant. Br J Dermatol 1999;141:166–167.
Schroeder TM. Relationship between chromosomal instability and leukemia. Hamatol Bluttransfus 1974;14:94–96.
Hakamada S, Watanabe K, Sobue G et al. Xeroderma pigmentosum: neurological, neurophysiological and morphological studies. Eur Neurol 1982;21:69–76.
Robbins JH. Xeroderma pigmentosum. Defective DNA repair causes skin cancer and neurodegeneration. JAMA 1988;260:384–388.
Robbins JH, Brumback RA, Moshell AN. Clinically asymptomatic xeroderma pigmentosum neurological disease in an adult: evidence for a neurodegeneration in later life caused by defective DNA repair. Eur Neurol 1993;33:188–190.
Rolig RL, McKinnon PJ. Linking DNA damage and neurodegeneration. Trends Neurosci 2000;23:417–424.
Mimaki T, Itoh N, Abe J et al. Neurological manifestations in xeroderma pigmentosum. Ann Neurol 1986;20:70–75.
Nakamura T, Ono T, Yoshimura K et al. Malignant schwannoma associated with xeroderma pigmentosum in a patient belonging to complementation group D. J Am Acad Dermatol 1991;25:349–353.
De Sanctis C, Cacchione A. L’idiozia xerodermica. Riv Sper Freniat 1932;56:269–292.
Vivian AJ, Ellison DW, McGill JI. Ocular melanomas in xeroderma pigmentosum. Br J Ophthalmol 1993;77:597–598.
Nance MA, Berry SA. Cockayne syndrome: review of 140 cases. Am J Med Genet 1992;42:68–84.
Lehmann AR. DNA repair-deficient diseases, xeroderma pigmentosum, Cockayne syndrome and trichothiodystrophy. Biochimie 2003;85:1101–1111.
Berneburg M, Lowe JE, Nardo T et al. UV damage causes uncontrolled DNA breakage in cells from patients with combined features of XP-D and Cockayne syndrome. EMBO J 2000;19:1157–1166.
Broughton BC, Berneburg M, Fawcett H et al. Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene. Hum Mol Genet 2001;10:2539–2347.
Scott RJ, Itin P, Kleijer WJ et al. Xeroderma pigmentosum-Cockayne syndrome complex in two patients: absence of skin tumors despite severe deficiency of DNA excision repair. J Am Acad Dermatol 1993;29:883–889.
Itin PH, Sarasin A, Pittelkow MR. Trichothiodystrophy: update on the sulfur-deficient brittle hair syndromes. J Am Acad Dermatol 2001;44:891–920.
Kraemer KH, DiGiovanna JJ, Moshell AN et al. Prevention of skin cancer in xeroderma pigmentosum with the use of oral isotretinoin. N Engl J Med 1988;318:1633–1637.
Yarosh D, Klein J, O’Connor A et al. Effect of topically applied T4 endonuclease V in liposomes on skin cancer in xeroderma pigmentosum: a randomised study. Xeroderma Pigmentosum Study Group. Lancet 2001;357:926–929.
Kraemer KH, Lee MM, Scotto J. Xeroderma pigmentosum. Cutaneous, ocular and neurologic abnormalities in 830 published cases. Arch Dermatol 1987;123:241–50.
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Hengge, U.R., Emmert, S. (2008). Clinical Features of Xeroderma Pigmentosum. In: Ahmad, S.I., Hanaoka, F. (eds) Molecular Mechanisms of Xeroderma Pigmentosum. Advances in Experimental Medicine and Biology, vol 637. Springer, New York, NY. https://doi.org/10.1007/978-0-387-09599-8_2
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