Background: Xeroderma Pigmentosum (XP) is a rare autosomal recessive genodermatosis characterized by pigmentary abnormalities, solar skin damage and cutaneous malignancies on sun exposed area of skin and eyes. XP occurs in subjects with molecular defects in the genes involved in nucleotide excision repair (NER) of ultraviolet-induced DNA lesions leading to premature skin and ocular ageing consequent upon cellular apoptosis and other UV-induced degenerative changes. If sufficient DNA damage occurs, there will be cellular transformation and the development of malignancies. Both genetic, as well as environmental factor, play an important role in XP. XP has a >1000-fold increased risk of a cutaneous basal cell or squamous cell carcinoma or malignant melanoma. Case history: In this case report, we mentioned about a 19 month old boy who was diagnosed clinically as a case of Xeroderma Pigmentosum and presented with pigmentary skin changes (generalized hypo and hyper pigmented macule), eye problems, developmental delay, acute respiratory infection and failure to thrive. A multidisciplinary team involving the Pediatrician, Dermatologist and Ophthalmologist evaluated, diagnosed and treated the patient. In this case, XP was diagnosed clinically due to lack of all investigation facilities. This genetic premalignant condition is rarely diagnosed at the district level hospitals in Bangladesh. We report this case to upgrade the knowledge of pediatricians working in the rural areas (primary and secondary level health care facilities) regarding the diagnosis, counseling, treatment modalities and appropriate referral for Xeroderma Pigmentosum. Recommended management should be focused on educating the patient and the parents about effective sun protection and early recognition of cancers. Genetic counseling should be offered for families at risk
| Published in | International Journal of Clinical Dermatology (Volume 2, Issue 2) |
| DOI | 10.11648/j.ijcd.20190202.12 |
| Page(s) | 15-18 |
| Creative Commons |
This is an Open Access article, distributed under the terms of the Creative Commons Attribution 4.0 International License (http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution and reproduction in any medium or format, provided the original work is properly cited. |
| Copyright |
Copyright © The Author(s), 2019. Published by Science Publishing Group |
Genetic, Premalignant, Xeroderma Pigmentosum
| [1] | Feller L, Wood NH, Motswaledi MH, Khammissa RAG, Meyer M, LemmerJ. Xeroderma Pigmentosum: a case report and review of the literature. J prev med hyg. 2010; 51: 87-91. |
| [2] | Genetic Home Reference. Xeroderma Pigmentosum; [accessed 6th December 2019]. Available from: https://ghr.nlm.nih.gov/condition/xeroderma-pigmentosum#statistics. |
| [3] | Up To Date. Xeroderma Pigmentosum; [updated 1st August 2019; accessed 6th December 2019]. Available from: https://www.uptodate.com/contents/xeroderma-pigmentosum. |
| [4] | Uribe-Bojanini E, Hernandez-Quiceno S, Cock-Rada AM. Xeroderma Pigmentosum with severe neurological manifestations/De Sanctis–Cacchione syndrome and a novel XPC mutation. Case Reports in Medicine. 2017; Article ID 7162737. |
| [5] | Wikipedia. Xeroderma Pigmentosum; [updated 4th December 2019; accessed 6th December 2019]. Available from: https://en.wikipedia.org/wiki/Xeroderma_pigmentosum. |
| [6] | Choudhary S, Parakh M, Suthar K, Parakh P, Khichar S. A noncancerous variant of Xeroderma Pigmentosum type D associated with novel heterozygous missense ERCC2 gene mutation. Indian J Dermatol Venereol Leprol. 2017; 83: 594-95. |
| [7] | Brooks BP, Thompson AH, Bishop RJ, Clayton JA, Chan CC, Tsilou ET, et al. Ocular manifestations of Xeroderma Pigmentosum: long term follow-up highlights the role of DNA repair in protection from sun damage. Ophthalmology. 2013; 120 (7): 1324–336. |
| [8] | Medscape. Neurologic Manifestations of Xeroderma Pigmentosum Clinical Presentation; [updated 19th March 2019; accessed 6thDecember 2019]. Available from: https://emedicine.medscape.com/article/1177889-clinical. |
| [9] | Kalogaa M, Diousséb P, Diattac BA, Bammod M, Kouroumaa S, Diabatee A, et al. Squamous cell carcinoma in African children with Xeroderma Pigmentosum: three case reports. Case Rep Dermatol. 2016; 8: 311–18. |
| [10] | Odhiambo AO, Kaminja K, Munyao T. Suspected case of stage 3 Xeroderma Pigmentosum: a case report. Afr JHaematol Oncol. 2015; 5: 15-18. |
| [11] | Pandey AN, Kuldeep K, Koul A, Tyagi M, Singh P, Sharma PD, et al. Xeroderma Pigmentosum with ocular association: case report. Case Reports in Clinical Medicine. 2013; 2 (8): 466-69. |
| [12] | Mulimani SM, Talikoti DG. A child with Xeroderma Pigmentosum for excision of basal cell carcinoma. Saudi J Anaesth. 2013; 7 (4): 467–69. |
| [13] | Medscape. Xeroderma Pigmentosum Workup; [updated 10th June 2016; accessed 6th December 2019]. Available from: https://emedicine.medscape.com/article/1119902-workup. |
| [14] | 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; 27 (12): 1133-137. |
| [15] | Therapeutics in Dermatology. Xeroderma Pigmentosum; [updated 4th March 2019; accessed 6th December 2019]. Available from: https://www.therapeutique-dermatologique.org/spip.php?article1566. |
APA Style
Md. Shohidul Islam Khan, Shamima Jahan, Sompa Rani Paul, Mohammad Morshad Alam, Muhammad Ismail Hasan, et al. (2019). A 19 Month Old Male Child with Xeroderma Pigmentosum-A Case Report. International Journal of Clinical Dermatology, 2(2), 15-18. https://doi.org/10.11648/j.ijcd.20190202.12
ACS Style
Md. Shohidul Islam Khan; Shamima Jahan; Sompa Rani Paul; Mohammad Morshad Alam; Muhammad Ismail Hasan, et al. A 19 Month Old Male Child with Xeroderma Pigmentosum-A Case Report. Int. J. Clin. Dermatol. 2019, 2(2), 15-18. doi: 10.11648/j.ijcd.20190202.12
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Download@article{10.11648/j.ijcd.20190202.12,
author = {Md. Shohidul Islam Khan and Shamima Jahan and Sompa Rani Paul and Mohammad Morshad Alam and Muhammad Ismail Hasan and Dhiman Chowdhury and Kamrunnaher Shultana and Farhana Zerin Khan and Md. Mozammel Haque},
title = {A 19 Month Old Male Child with Xeroderma Pigmentosum-A Case Report},
journal = {International Journal of Clinical Dermatology},
volume = {2},
number = {2},
pages = {15-18},
doi = {10.11648/j.ijcd.20190202.12},
url = {https://doi.org/10.11648/j.ijcd.20190202.12},
eprint = {https://article.sciencepublishinggroup.com/pdf/10.11648.j.ijcd.20190202.12},
abstract = {Background: Xeroderma Pigmentosum (XP) is a rare autosomal recessive genodermatosis characterized by pigmentary abnormalities, solar skin damage and cutaneous malignancies on sun exposed area of skin and eyes. XP occurs in subjects with molecular defects in the genes involved in nucleotide excision repair (NER) of ultraviolet-induced DNA lesions leading to premature skin and ocular ageing consequent upon cellular apoptosis and other UV-induced degenerative changes. If sufficient DNA damage occurs, there will be cellular transformation and the development of malignancies. Both genetic, as well as environmental factor, play an important role in XP. XP has a >1000-fold increased risk of a cutaneous basal cell or squamous cell carcinoma or malignant melanoma. Case history: In this case report, we mentioned about a 19 month old boy who was diagnosed clinically as a case of Xeroderma Pigmentosum and presented with pigmentary skin changes (generalized hypo and hyper pigmented macule), eye problems, developmental delay, acute respiratory infection and failure to thrive. A multidisciplinary team involving the Pediatrician, Dermatologist and Ophthalmologist evaluated, diagnosed and treated the patient. In this case, XP was diagnosed clinically due to lack of all investigation facilities. This genetic premalignant condition is rarely diagnosed at the district level hospitals in Bangladesh. We report this case to upgrade the knowledge of pediatricians working in the rural areas (primary and secondary level health care facilities) regarding the diagnosis, counseling, treatment modalities and appropriate referral for Xeroderma Pigmentosum. Recommended management should be focused on educating the patient and the parents about effective sun protection and early recognition of cancers. Genetic counseling should be offered for families at risk},
year = {2019}
}
TY - JOUR T1 - A 19 Month Old Male Child with Xeroderma Pigmentosum-A Case Report AU - Md. Shohidul Islam Khan AU - Shamima Jahan AU - Sompa Rani Paul AU - Mohammad Morshad Alam AU - Muhammad Ismail Hasan AU - Dhiman Chowdhury AU - Kamrunnaher Shultana AU - Farhana Zerin Khan AU - Md. Mozammel Haque Y1 - 2019/12/11 PY - 2019 N1 - https://doi.org/10.11648/j.ijcd.20190202.12 DO - 10.11648/j.ijcd.20190202.12 T2 - International Journal of Clinical Dermatology JF - International Journal of Clinical Dermatology JO - International Journal of Clinical Dermatology SP - 15 EP - 18 PB - Science Publishing Group SN - 2995-1305 UR - https://doi.org/10.11648/j.ijcd.20190202.12 AB - Background: Xeroderma Pigmentosum (XP) is a rare autosomal recessive genodermatosis characterized by pigmentary abnormalities, solar skin damage and cutaneous malignancies on sun exposed area of skin and eyes. XP occurs in subjects with molecular defects in the genes involved in nucleotide excision repair (NER) of ultraviolet-induced DNA lesions leading to premature skin and ocular ageing consequent upon cellular apoptosis and other UV-induced degenerative changes. If sufficient DNA damage occurs, there will be cellular transformation and the development of malignancies. Both genetic, as well as environmental factor, play an important role in XP. XP has a >1000-fold increased risk of a cutaneous basal cell or squamous cell carcinoma or malignant melanoma. Case history: In this case report, we mentioned about a 19 month old boy who was diagnosed clinically as a case of Xeroderma Pigmentosum and presented with pigmentary skin changes (generalized hypo and hyper pigmented macule), eye problems, developmental delay, acute respiratory infection and failure to thrive. A multidisciplinary team involving the Pediatrician, Dermatologist and Ophthalmologist evaluated, diagnosed and treated the patient. In this case, XP was diagnosed clinically due to lack of all investigation facilities. This genetic premalignant condition is rarely diagnosed at the district level hospitals in Bangladesh. We report this case to upgrade the knowledge of pediatricians working in the rural areas (primary and secondary level health care facilities) regarding the diagnosis, counseling, treatment modalities and appropriate referral for Xeroderma Pigmentosum. Recommended management should be focused on educating the patient and the parents about effective sun protection and early recognition of cancers. Genetic counseling should be offered for families at risk VL - 2 IS - 2 ER -
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