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.
This is a preview of subscription content, log in via an institution to check access.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
References
Larizza L, Roversi G, Volpi L. Rothmund-Thomson syndrome. Orphanet J Rare Dis. 2010;5:2.
Rayinda T, van Steensel M, Danarti R. Inherited skin disorders presenting with poikiloderma. Int J Dermatol. 2021;60(11):1343–53.
Salih A, Inoue S, Onwuzurike N. Rothmund-Thomson syndrome (RTS) with osteosarcoma due to RECQL4 mutation. BMJ Case Rep. 2018;2018:bcr2017222384.
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.
Schmit M, Bielinsky AK. Congenital diseases of DNA replication: clinical phenotypes and molecular mechanisms. Int J Mol Sci. 2021;22(2):911.
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.
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.
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.
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.
Schmit M, Bielinsky AK. Congenital diseases of DNA replication: clinical phenotypes and molecular mechanisms. Int J Mol Sci. 2021;22(2):911.
Lu L, Jin W, Wang LL. RECQ DNA helicases and osteosarcoma. Adv Exp Med Biol. 2020;1258:37–54.
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.
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.
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.
Chu WK, Hickson ID. RecQ helicases: multifunctional genome caretakers. Nat Rev Cancer. 2009;9:644–54.
Hafsi W, Badri T, Rice AS. Bloom syndrome. [Updated 2021 Jan 5]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2021.
El-Heis S, Godfrey KM. The role of genetic testing in hereditary poikiloderma: a case report. Glob Pediatr Health. 2017;4:2333794X17715840.
Author information
Authors and Affiliations
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2022 The Author(s), under exclusive license to Springer Nature Switzerland AG
About this chapter
Cite this chapter
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
Download citation
DOI: https://doi.org/10.1007/978-3-030-93666-2_14
Published:
Publisher Name: Springer, Cham
Print ISBN: 978-3-030-93665-5
Online ISBN: 978-3-030-93666-2
eBook Packages: MedicineMedicine (R0)