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Tiny Hyperpigmented Macule on Lower Lip

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Part of the Clinical Cases in Dermatology book series (CLIDADE)

Abstract

Xeroderma pigmentosum (XP) is a rare autosomal recessive disease, caused by a gene defect in the nucleotide-excision-repair (NER) pathway or translesional DNA synthesis. This DNA repair defect results in cellular hypersensitivity to ultraviolet (UV) radiation, clinically leading to photosensitivity, severe sunburn with blistering, persistent erythema on minimal sun exposure, marked freckle-like pigmentation of the face occurring usually before age 2 years, ocular involvement, premature skin aging and most importantly increased risk of sunlight-induced cutaneous neoplasms even in the first decade of life.

Herein we want to present a 9-year-old female patient who has xeroderma pigmentosum and multiple skin tumors on the face, concomitantly.

Keywords

  • Basal cell carcinoma
  • Dermatology
  • Dermatooncology
  • Dermoscopy
  • DNA
  • Genodermatosis
  • Melanoma
  • Ultraviolet
  • Xeroderma pigmentosum

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  • DOI: 10.1007/978-3-030-93666-2_31
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References

  1. Lucero R, Horowitz D. Xeroderma pigmentosum. 2020 Jul 11. In: StatPearls. Treasure Island, FL: StatPearls Publishing; 2021.

    Google Scholar 

  2. Hamid RN, Akkurt ZM. Hereditary tumor syndromes with skin involvement. Dermatol Clin. 2019;37:607–13.

    CAS  CrossRef  Google Scholar 

  3. Schierbeck J, Vestergaard T, Bygum A. Skin cancer associated genodermatoses: a literature review. Acta Derm Venereol. 2019;99:360–9.

    CAS  CrossRef  Google Scholar 

  4. 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; https://doi.org/10.1111/cup.13979.

  5. Kalev I, Muru K, Teek R, Zordania R, Reimand T, Köbas K, Ounap K. LEOPARD syndrome with recurrent PTPN11 mutation Y279C and different cutaneous manifestations: two case reports and a review of the literature. Eur J Pediatr. 2010;169(4):469–73. https://doi.org/10.1007/s00431-009-1058-1.

    CrossRef  PubMed  Google Scholar 

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Uzuncakmak, T.K., Kutlubay, Z. (2022). Tiny Hyperpigmented Macule on Lower Lip. 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_31

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  • DOI: https://doi.org/10.1007/978-3-030-93666-2_31

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-030-93665-5

  • Online ISBN: 978-3-030-93666-2

  • eBook Packages: MedicineMedicine (R0)