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A Pediatric Case Presenting with Poikiloderma

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

Abstract

Poikiloderma is a descriptive term referring to a combination of atrophy of the epidermis, telangiectasia, and macular pigment changes (hypo- and hyperpigmentation). The skin condition can be both congenital and acquired. Acquired forms have been attributed to inflammatory, metabolic, environmental, iatrogenic, and neoplastic factors. Poikiloderma may represent an essential element of inherited skin disorders. In these conditions, skin changes start early in life and almost always precede more severe manifestations of these genodermatoses.

Pediatric patients presenting with poikiloderma require thorough clinical examination. A broad differential diagnosis should be considered: Rothmund-Thomson syndrome, xeroderma pigmentosum, dyskeratosis congenita, hereditary sclerosing poikiloderma, hereditary fibrosing poikiloderma with tendon contractures, myopathy, pulmonary fibrosis, Bloom syndrome, Kindler syndrome, and Clericuzio-type poikiloderma with neutropenia. Here, we present a case of a 4-year-old boy with poikiloderma on the face and extremities developed during the first year of life.

Keywords

  • OMIM 268400
  • poikiloderma congenital
  • Rothmund–Thomson syndrome
  • DNA helicase
  • Genomic instability

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  • DOI: 10.1007/978-3-030-93666-2_14
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References

  1. Larizza L, Roversi G, Volpi L. Rothmund-Thomson syndrome. Orphanet J Rare Dis. 2010;5:2.

    Google Scholar 

  2. Rayinda T, van Steensel M, Danarti R. Inherited skin disorders presenting with poikiloderma. Int J Dermatol. 2021;60(11):1343–53.

    Google Scholar 

  3. Salih A, Inoue S, Onwuzurike N. Rothmund-Thomson syndrome (RTS) with osteosarcoma due to RECQL4 mutation. BMJ Case Rep. 2018;2018:bcr2017222384.

    Google Scholar 

  4. Polese L, Merigliano S, Mungo B, Pennelli G, Norberto L. Report on a case of Rothmund-Thomson syndrome associated with esophageal stenosis. Dis Esophagus. 2011;24(8):E41–4.

    Google Scholar 

  5. Schmit M, Bielinsky AK. Congenital diseases of DNA replication: clinical phenotypes and molecular mechanisms. Int J Mol Sci. 2021;22(2):911.

    Google Scholar 

  6. Nadeau K, Brule M. Gastrointestinal malignancy presenting with a Virchow’s node in a patient with Rothmund-Thomson syndrome. Case Rep Genet. 2018;2018:7536832.

    Google Scholar 

  7. Wang LL, Gannavarapu A, Kozinetz CA, Levy ML, Lewis RA, Chintagumpala MM, et al. Association between osteosarcoma and deleterious mutations in the RECQL4 gene in Rothmund-Thomson syndrome. J Natl Cancer Inst. 2003;95:669–74.

    Google Scholar 

  8. Stinco G, Governatori G, Mattighello P, Patrone P. Multiple cutaneous neoplasms in a patient with Rothmund-Thomson syndrome: case report and published work review. J Dermatol. 2008;35(3):154–61.

    CrossRef  Google Scholar 

  9. Terabayashi T, Hanada K. Genome instability syndromes caused by impaired DNA repair and aberrant DNA damage responses. Cell Biol Toxicol. 2018;34(5):337–50.

    Google Scholar 

  10. Schmit M, Bielinsky AK. Congenital diseases of DNA replication: clinical phenotypes and molecular mechanisms. Int J Mol Sci. 2021;22(2):911.

    Google Scholar 

  11. Lu L, Jin W, Wang LL. RECQ DNA helicases and osteosarcoma. Adv Exp Med Biol. 2020;1258:37–54.

    Google Scholar 

  12. Castillo-Tandazo W, Smeets MF, Murphy V, Liu R, Hodson C, Heierhorst J, Deans AJ, Walkley CR. ATP-dependent helicase activity is dispensable for the physiological functions of Recql4. PLoS Genet. 2019;15(7):e1008266.

    Google Scholar 

  13. Siitonen HA, Sotkasiira J, Biervliet M, Benmansour A, Capri Y, Cormier-Daire V, et al. The mutation spectrum in RECQL4 diseases. Eur J Hum Genet. 2009;17(2):151–8.

    Google Scholar 

  14. Colombo EA, Locatelli A, Cubells Sánchez L, Romeo S, Elcioglu NH, Maystadt I, et al. Rothmund-Thomson syndrome: insights from new patients on the genetic variability underpinning clinical presentation and cancer outcome. Int J Mol Sci. 2018;19(4):1103.

    Google Scholar 

  15. Chu WK, Hickson ID. RecQ helicases: multifunctional genome caretakers. Nat Rev Cancer. 2009;9:644–54.

    CAS  CrossRef  Google Scholar 

  16. Hafsi W, Badri T, Rice AS. Bloom syndrome. [Updated 2021 Jan 5]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2021.

    Google Scholar 

  17. El-Heis S, Godfrey KM. The role of genetic testing in hereditary poikiloderma: a case report. Glob Pediatr Health. 2017;4:2333794X17715840.

    PubMed  PubMed Central  Google Scholar 

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Demerdjieva, Z., Trifunova, B.K., Damevska, S. (2022). A Pediatric Case Presenting with Poikiloderma. 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_14

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  • DOI: https://doi.org/10.1007/978-3-030-93666-2_14

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-030-93665-5

  • Online ISBN: 978-3-030-93666-2

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