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CC BY 4.0 · Indian J Med Paediatr Oncol 2025; 46(01): 099-103
DOI: 10.1055/s-0043-1768984
Brief Communication

Skin Tumors in Pediatric Patients with Xeroderma Pigmentosum: A Case Series

Kanwal Aftab 
1   Department of Histopathology, Indus Hospital & Health Network, Karachi, Pakistan
,
Sidra Maqsood 
2   Indus Hospital Research Centre, Indus Hospital & Health Network, Karachi, Pakistan
,
Nausheen Yaqoob
1   Department of Histopathology, Indus Hospital & Health Network, Karachi, Pakistan
› Author Affiliations Funding None.
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Abstract

Xeroderma pigmentosum (XP) is a rare autosomal recessive genetic disease. This disease predisposes patients to early-onset skin cancers, like squamous cell carcinoma and basal cell carcinoma. This was a 5-year experience. Here, we report nine pediatric cases of XP in which two patients had basal cell carcinoma and six patients had squamous cell carcinoma. We have also reported one case in which both skin malignancies were present. The subjects included seven boys and two girls, while seven subjects were from consanguineous marriages, and the average age was 9.4 years. All the patients had ulcerative budding tumor lesions on the face (eye, nose, chin, cheek, and forehead) and scalp. Squamous cell carcinoma is a common cutaneous malignancy related to XP in our study. Prevention is based on the early diagnosis of XP, skin photo-protection, screening and early treatment of lesions, and genetic counseling.

Keywords

basal cell carcinoma - squamous cell carcinoma - xeroderma pigmentosum - genetic disease - skin cancers


Publication History

Article published online:
06 February 2025

© 2025. The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. (https://creativecommons.org/licenses/by/4.0/)

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  • References

  • 1 Kaloga M, Dioussé P, Diatta BA. et al. Squamous cell carcinoma in african children with xeroderma pigmentosum: three case reports. Case Rep Dermatol 2016; 8 (03) 311-318
    CrossrefPubMedSearch in Google Scholar
  • 2 Tamura D, Ono R, DiGiovanna JJ, Kraemer KH. Management of Xeroderma Pigmentosum. DNA Repair Disorders. Springer; 2019: 203-221
    Search in Google Scholar
  • 3 Black JO. Xeroderma pigmentosum. Head Neck Pathol 2016; 10 (02) 139-144
    CrossrefPubMedSearch in Google Scholar
  • 4 Neel JV, Kodani M, Brewer R, Anderson RC. The incidence of consanguineous matings in Japan, with remarks on the estimation of comparative gene frequencies and the expected rate of appearance of induced recessive mutations. Am J Hum Genet 1949; 1 (02) 156-178
    PubMedSearch in Google Scholar
  • 5 Robbins JH, Kraemer KH, Lutzner MA, Festoff BW, Coon HG. Xeroderma pigmentosum. An inherited diseases with sun sensitivity, multiple cutaneous neoplasms, and abnormal DNA repair. Ann Intern Med 1974; 80 (02) 221-248
    CrossrefPubMedSearch in Google Scholar
  • 6 Goyal JL, Rao VA, Srinivasan R, Agrawal K. Oculocutaneous manifestations in xeroderma pigmentosa. Br J Ophthalmol 1994; 78 (04) 295-297
    CrossrefPubMedSearch in Google Scholar
  • 7 Butt FM, Moshi JR, Owibingire S, Chindia ML. Xeroderma pigmentosum: a review and case series. J Craniomaxillofac Surg 2010; 38 (07) 534-537
    CrossrefPubMedSearch in Google Scholar
  • 8 Idrees N, Chaudhry TA. Arsalan. Four cases of xeroderma pigmentosum in a Pakistani family. Pak J Ophthalmol 2014;30(04):
  • 9 Ijaz A, Basit S, Gul A. et al. XPC gene mutations in families with xeroderma pigmentosum from Pakistan; prevalent founder effect. Congenit Anom (Kyoto) 2019; 59 (01) 18-21
    CrossrefPubMedSearch in Google Scholar
  • 10 Khan MA, Akbar N, Saeed A, Amir A, Ikram A, Saleem Z. Xeroderma pigmentosum associated with squamous and basal cell carcinoma in Pakistan: a case series. Adv Skin Wound Care 2021; 34 (11) 608-612
    CrossrefPubMedSearch in Google Scholar
  • 11 Baykal C, Atcı T, Yılmaz Z, Büyükbabani N. Skin tumors in xeroderma pigmentosum: evaluation of a large series and a literature review. J Cutan Pathol 2021; 48 (07) 884-895
    CrossrefPubMedSearch in Google Scholar
  • 12 Kraemer KH, Lee MM, Scotto J. Xeroderma pigmentosum. Cutaneous, ocular, and neurologic abnormalities in 830 published cases. Arch Dermatol 1987; 123 (02) 241-250
    CrossrefPubMedSearch in Google Scholar
  • 13 Alwatban L, Binamer Y. Xeroderma pigmentosum at a tertiary care center in Saudi Arabia. Ann Saudi Med 2017; 37 (03) 240-244
    CrossrefPubMedSearch in Google Scholar
  • 14 Espi P, Parajuli S, Benfodda M. et al. Clinical and genetic characteristics of xeroderma pigmentosum in Nepal. J Eur Acad Dermatol Venereol 2018; 32 (05) 832-839
    CrossrefPubMedSearch in Google Scholar
  • 15 Zhou EY, Wang H, Lin Z. et al. Clinical and molecular epidemiological study of xeroderma pigmentosum in China: a case series of 19 patients. J Dermatol 2017; 44 (01) 71-75
    CrossrefPubMedSearch in Google Scholar
  • 16 Fassihi H, Sethi M, Fawcett H. et al. Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defect. Proc Natl Acad Sci U S A 2016; 113 (09) E1236-E1245
    CrossrefPubMedSearch in Google Scholar
  • 17 Thielmann HW, Popanda O, Edler L, Jung EG. Clinical symptoms and DNA repair characteristics of xeroderma pigmentosum patients from Germany. Cancer Res 1991; 51 (13) 3456-3470
    PubMedSearch in Google Scholar
  • 18 Nakano E, Masaki T, Kanda F. et al. The present status of xeroderma pigmentosum in Japan and a tentative severity classification scale. Exp Dermatol 2016; 25 (suppl 3): 28-33
    CrossrefPubMedSearch in Google Scholar
  • 19 Bhutto AM, Shaikh A, Nonaka S. Incidence of xeroderma pigmentosum in Larkana, Pakistan: a 7-year study. Br J Dermatol 2005; 152 (03) 545-551
    CrossrefPubMedSearch in Google Scholar
  • 20 Akdeniz N, Bilgili SG, Çalka Ö, Karadağ ASJTJoMS. Xeroderma pigmentosum in eastern Turkey: a review of 15 cases. Turkish J Med Sci 2012; 42 (04) 719-723
    Search in Google Scholar
  • 21 Mulimani SM, Talikoti DG. A child with xeroderma pigmentosum for excision of basal cell carcinoma. Saudi J Anaesth 2013; 7 (04) 467
    CrossrefPubMedSearch in Google Scholar