Shamimul Hasan, Mohammad Abbas Khan

Abstract: In xeroderma pigmentosum, a rare genodermatosis, transmitted as an autosomal recessive disorder, excessive solar damage to the skin develops at an early age. The disease is characterized by cutaneous, ocular, neurological and oral changes. Oral features in the form of early development of Squamous cell carcinoma, usually at the lower lip and tip of the tongue may be seen. The disorder is associated more commonly in populations where marriage of close blood relatives is common. Treatment of the disorder includes avoidance of Ultra violet radiation, topical application of 5 fluorouracil to treat actinic keratoses, and regular evaluation by an optholmologist, dermatologist, and neurologist. Genetic counseling is an important aspect as an increased incidence of consanguineous marriages have been reported with this disorder. Here, we report an interesting case of xeroderma pigmentosum in an 18 year old male patient who presented with characterstic desquamation of gingiva, fissured tongue and geoghraphic tongue.

Keywords: Oral Genodermatosis, Xeroderma Pigmentosum, Desquamative Gingivitis, Developmental Tongue Lesions

Cite this paper: nullS. Hasan and M. Khan, "Xeroderma Pigmentosum with Desquamative Gingivitis a Rare Case Report and Detailed Review of Literature," Journal of Cosmetics, Dermatological Sciences and Applications, Vol. 1 No. 4, 2011, pp. 164-170. doi: 10.4236/jcdsa.2011.14025.

References

[1]   J. H. Robbins, et al., “Xeroderma Pigmentosum: An Inherited Diseases with Sun Sensitivity, Multiple Cutaneous Neoplasms, and Abnormal DNA Repair,” Annals of Internal Medicine, Vol. 80, No. 2, 1974, pp. 221-248.

[2]   K. H. Kraemer, et al., “Xeroderma Pigmentosum: Cutaneous, Ocular and Neurologic Abnormalities in 830 Published Case,” Archives of Dermatology, Vol. 123, No. 2, 1987, pp. 241-250. doi:10.1001/archderm.123.2.241

[3]   H. Takebe, et al., “Genetic and Skin Cancer of Xeroderma Pigmentosum in Japan,” Japanese Journal of Cancer Research, Vol.78, No. 11, 1987, pp. 1135-1143.

[4]   J. E. Cleaver and K. H. Kraemer, “Xeroderma Pigmentosum and Cockayne Syndrome in The Metabolic and Molecular Basis of Inherited Diseases,” 7th Edition, McGraw-Hill, New York, 1995, p. 4393.

[5]   J. E. Cleaver, “Defective Repair Replication of DNA in Xeroderma Pigmentosum,” Nature, Vol. 218, No. 5142, 1968, pp. 652-656. doi:10.1038/218652a0

[6]   Xeroderma Pigmentosum Society, New York, USA, 2005. http://www.xps.org

[7]   M. G. Horenstein and A. H. Diwan, “Xeroderma Pigmentosum,” 2005. http://www.emedicine.com/derm/topic 462.htm

[8]   K. Yagi, A. el-G. Ali, K. el-D. Abbas, et al., “Carcinoma of the Tongue in a Patient with Xeroderma Pigmentosum,” International Journal of Oral Surgery, Vol. 10, No. 1, 1981, pp. 73-76. doi:10.1016/S0300-9785(81)80011-7

[9]   S. Christen-Zaech, K. Imoto, S. G. Khan, et al., “Unexpected Occurrence of Xeroderma Pigmentosum in an Uncle and Nephew;” Archives of Dermatology, Vol. 145, No. 11, 2009, pp. 1285-1291.

[10]   H. Ahmed and R. Hassan, “Xeroderma Pigmentosum in Three Consecutive Siblings of a Nigerian Family: Observations on Oculo Cutaneous Manifestations in Black African Children,” British Journal of Ophthalmology, Vol. 85, No. 1, 2001, p. 110. doi:10.1136/bjo.85.1.110

[11]   S. R. Rizvi, A. K Amitava, G. Mehdi, R. Sharma and M. S. Alam, “Orbital Amelanotic Melanoma in Xeroderma Pigmentosum: A Rare Association: Presentation at a Meeting,” Indian Journal of Ophthalmology, Vol. 56, No. 5, 2008, pp. 421-423.

[12]   K. Agarwal, A. J. Veliath, S. Mishra, et al., “Xeroderma Pigmentosum: Resurfacing Versus Dermabrasion,” British Journal of Plastic Surgery, Vol. 45, No. 4, 1992, pp. 311-314. doi:10.1016/0007-1226(92)90059-7

[13]   S. Leal-Khouri, G. J. Hruza, L. L. Hruza, et al., “Management of a Young Patient with Xeroderma Pigmentosum,” Pediatric Dermatology, Vol. 11, No. 1, 1994, pp. 72-75. doi:10.1111/j.1525-1470.1994.tb00080.x

[14]   K. H. Kraemer and H. Slor, “Xeroderma Pigmentosum,” Clinics in Dermatology, Vol.3, No. 1, 1985, pp. 33-69. doi:10.1016/0738-081X(85)90096-3

[15]   K. H. Kraemer, N. J. Patronas, R. Schiffmann, B. P. Brooks, D. Tamura and J. J. DiGiovanna, “Xeroderma Pigmentosum, Trichothiodystrophy and Cockayne Syndrome: A Complex Genotype-Phenotype Relationship,” Neuroscience, Vol. 145, No. 4, 2007, pp. 1388-1396. doi:10.1016/j.neuroscience.2006.12.020

[16]   F. Hebra and M. Kaposi, “On Diseases of the Skin including Exanthemata,” New Sydenham Society, Vol. 61, 1874, pp. 252-258.

[17]   M. Kaposi, “Xeroderma Pigmentosum [in French],” Ann Dermatol Venereol, Vol. 4, 1883, pp. 29-38.

[18]   Neisser A, “Ueber das “Xeroderma Pigmentosum” (Kaposi): Lioderma Essentialis Cummelanosi et Telangiectasia,” Vierteljahrschr Dermatol Syphil, 1883, pp. 47-62.

[19]   C. De Sanctis and A Cacchione, “Xerodermatic Idiocy,” Riv Sper Freniat, Vol. 56, 1932, pp. 269-292.

[20]   A. Sarasin, “The Molecular Pathways of Ultraviolet-Induced Carcinogenesis,” Mutation Research, Vol. 428, No. 1-2, 1999, pp. 5-10. doi:10.1016/S1383-5742(99)00025-3

[21]   H. van Steeg and K. H. Kraemer, “Xeroderma pigmentosum and the Role of UV-induced DNA Damage in Skin Cancer,” Molecular Medicine Today, Vol. 5, No. 2, 1999, pp. 86-94. doi:10.1016/S1357-4310(98)01394-X

[22]   T. M. Rünger, J. J. DiGiovanna and K. H. Kraemer, “Hereditary Disorders of Genome Instability and DNA Repair,” In: K. Wolff, L. A. Goldsmith, S. I. Katz, et al., Eds., Fitzpatrick’s Dermatology in General Medicine, McGraw-Hill, New York, 2008, pp. 1311-1325.

[23]   Y. Shimizu, I. Shigenori, F. Hanaoka, et al., “Xeroderma Pigmentosum Group C Protein Interacts Physically and Functionally with Thymine DNA Glycosylase,” The EMBO Journal, Vol. 22, 2003, pp. 164-173. doi:10.1093/emboj/cdg016

[24]   J. H. Robbins, “Xeroderma Pigmentosum: Defective DNA Repair Causes Skin Cancer and Neurodegeneration,” Journal of the American Medical Association, Vol. 260, No. 3, 1988, pp. 384-388. doi:10.1001/jama.260.3.384

[25]   A. Gratchev, P. Strein, J. Utikal, et al., “Molecular Genetics of Xeroderma Pigmentosum Variant,” Experimental Dermatology, Vol. 12, No. 5, 2003, pp. 529-536. doi:10.1034/j.1600-0625.2003.00124.x

[26]   M. L. Khatri, M. Bemghazil, M. Shafi, et al., “Xeroderma Pigmentosum in Libya,” International Journal of Dermatology, Vol. 38, No. 7, 1999, pp. 520-524. doi:10.1046/j.1365-4362.1999.00751.x

[27]   H. Masinjila and E. Arnbjornsson, “Two Children with Xeroderma Pigmentosum Developing Two Different Types of Malignancies Simultaneously,” Pediatric Surgery International, Vol. 13, No. 4, 1998, pp. 299-300. doi:10.1007/s003830050324

[28]   F. Handa, R. L. Manchanda and R. Singh, “Xeroderma Pigmentosum,” Indian Journal of Dermatology, Venereology and Leprology, Vol. 34, No. 6, 1968, pp. 231-236.

[29]   E. C. Friedberg, et al., “DNA Repair and Mutagenesis,” ASM Press, Washington D. C., 1995.

[30]   Xeroderma Pigmentosum. New Zealand Dermatological Society, Hamilton, New Zealand, 2005. http://www.dermnetnz.org/systemic/xerodermapigmentosum.html

[31]   K. H. Kraemer, et al., “The Role of Sunlight and DNA Repair in Melanoma and Non Melanoma Skin Cancer: The Xeroderma Pigmentosum Paradigm,” Archives of Dermatology, Vol. 130, No. 8, 1994, pp. 1018-1021. doi:10.1001/archderm.130.8.1018

[32]   L. J. Niedernhofer, “Tissue-Specific Accelerated Aging in Nucleotide Excision Repair Deficiency,” Mechanisms of Ageing and Development, Vol. 129, No. 7-8, 2008, pp. 408-411. doi:10.1016/j.mad.2008.04.010

[33]   B. Gupta, R. Anegundi and C. M. Marya, “Xeroderma Pigmentosa; Review and Case Report,” Journal of Oral Health & Community Dentistry, Vol. 1, No. 2, 2007, pp. 43-55.

[34]   K. H. Kraemer, “Heritable Diseases with Increased Sensitivity to Cellular Injury,” In: I. M. Freedberg, A. Z. Eisen, K. Wolff, et al., Eds., Fitzpatrick’s Dermatology in General Medicine, McGraw-Hill, New York, 2003, pp. 1508- 1521.

[35]   J. L. Hawk and H. W. Lim, “Photodermatoses,” In: J. L. Bolognia, J. L. Jorizzo, R. P. Rapini, et al., Eds., Dermatology, Mosby, New York, 2003, pp. 1365-1383.

[36]   W. C. Lambert, H.-R. Kuo and M. W. Lambert, “Xero- derma Pigmentosum.,” In: A. C. Chu, R. L. Edelson, Eds., Malignant Tumors of the Skin, Oxford University Press, New York, 1999, pp. 119-137.

[37]   P. Mahindra, J. J. DiGiovanna, D. Tamura, et al., “Skin Cancers, Blindness, and Anterior Tongue Mass in African Brothers,” Journal of the American Academy of Dermatology, Vol. 59, No. 5, 2008, pp. 881-886. doi:10.1016/j.jaad.2008.06.030

[38]   B. W. Neville, D. D. Damm, C. M. Allen, et al., “Dermatologic Diseases,” In: B. W. Neville, D. D. Damm, C. M. Allen, et al., Eds., Oral and Maxillofacial Pathology, Saunders Elsevier, Missouri, 2009, pp. 747-748.

[39]   J. Tomes, G. Tomes, “Dental Surgery,” 4th Edition, J & A Churchill Ltd., London, 1894.

[40]   H. Prinz, “Chronic Diffuse Desquamative Gingivitis,” Dental Cosmos, Vol. 74, 1932, p. 331.

[41]   A.H. Merrit, “Chronic Desquamative Gingivitis,” Journal of Periodontology, Vol. 4, 1932, pp. 30-34.

[42]   A. Alkan, O. Gunhan, A. Alkan and F. Otan, “A Clinical Study of Oral Mucous Membrane Pemphigoid,” Journal of International Medical Research, Vol. 31, No. 4, 2003, pp. 340-344.

[43]   F. Y. Bozcurt, H. Celenligil, A. Sungur and S. Ruacan, “Gingival Involvement in Mucous Membrane Pemphigoid,” Quintessence International, Vol. 29, No. 7, 1998, pp. 438-441.

[44]   C. Scully and S. R. Porter. “The Clinical Spectrum of Desquamative Gingivitis,” Seminars in Cutaneous Medicine and Surgery, Vol. 16, No. 4, 1997, pp. 308-313.

[45]   R. J. Niesengard and R. A. Levine, “Diagnosis and Management of Desquamative Gingivitis,” Periodontal Insights, Vol. 2, 1995, pp. 4-10.

[46]   E. Kaminagakura, J. Jorge Jr., “Melkersson Rosenthal Syndrome: A Histopathologic Mystery and Dermatologic Challenge, Journal of Cutaneous Pathology, Vol. 38, No. 2, 2011, pp. 241-245.

[47]   N. S. Dar-Odeh, W. A. Hayajneh, O. A. Abu-Hammad, et al., “Orofacial Findings in Chronic Granulomatous Disease: Report of Twelve Patients and Review of the Literature,” BMC Research Notes, Vol. 3, No. 1, 2010, p. 37. doi:10.1186/1756-0500-3-37