Abstract
A 16-year-old boy presented to our hospital because of a huge mass on the face and a large ulcer on the scalp. Physical examination revealed a giant necrotic, ulcerating mass involving the two third upper part of the face (Fig. 23.1) and an ulcer sized 10 × 7 cm on the cranial vertex of the scalp (Fig. 23.2). The mass covered almost the two eyes and half of the nose with multiple bleedings and pus-discharging. This mass had been gradually progressing for the last 7 years. There were also diffuse hypo-hyperpigmented atrophic lesions all over the body (Fig. 23.3). His skin was unnaturally dry and rough. Telengiectases were observed over some lesions. These lesions have increased over the skin since the age of three. There was no palpable lymph node. He had a significant alteration of general condition with a BMI (body mass index) of 13.6 kg/m2. He has a family history of consanguinity, but no other person in the family has similar presentation.
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Lehmann AR, McGibbon D, Stefanini M. Xeroderma pigmentosum. Orphanet J Rare Dis. 2011;6:70.
Bradford PT, Goldstein AM, Tamura D, et al. Cancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterises the role of DNA repair. J Med Genet. 2011;48(3):168–76.
Emir S, Hacısalihoğlu Ş, Özyörük D, et al. Squamous cell carcinoma associated with xeroderma pigmentosum: an unusual presentation with a tremendously huge mass over the face and paraneoplastic hypercalcemia-hyperleukocytosis. Turk J Pediatr. 2017;59(6):711.
Anttinen A, Koulu L, Nikoskelainen E, et al. Neurological symptoms and natural course of xeroderma pigmentosum. Brain J Neurol. 2008;131(Pt 8):1979–89.
Kleijer WJ, van der Sterre MLT, Garritsen VH, et al. Prenatal diagnosis of xeroderma pigmentosum and trichothiodystrophy in 76 pregnancies at risk. Prenat Diagn. 2007;27(12):1133–7.
Dupuy A, và Sarasin A. DNA damage and gene therapy of xeroderma pigmentosum, a human DNA repair-deficient disease. Mutat Res. 2015;776:2–8.
Masaki T, Wang Y, DiGiovanna JJ, et al. High frequency of PTEN mutations in nevi and melanomas from xeroderma pigmentosum patients. Pigment Cell Melanoma Res. 2014;27(3):454–64.
DiGiovanna JJ. Retinoid chemoprevention in patients at high risk for skin cancer. Med Pediatr Oncol. 2001;36(5):564–7.
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Doanh, L.H., Van Thuong, N., Tirant, M. (2022). Giant Squamous Cell Carcinoma in Xeroderma Pigmentosum. In: Satolli, F., Tirant, M., Wollina, U., Lotti, T.M. (eds) Clinical Cases in Pediatric Skin Cancers. Clinical Cases in Dermatology. Springer, Cham. https://doi.org/10.1007/978-3-030-93666-2_23
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