Patient Perspectives, Unmet Needs and Dilemmas in Reproductive Decision-making for Genodermatoses: A Qualitative Interview Study
DOI:
https://doi.org/10.2340/actadv.v106.adv-2025-0278Keywords:
Skin Diseases, Genetic, Qualitative Research, Reproductive Behavior, Genetic Counseling, Prenatal Diagnosis, Preimplantation DiagnosisAbstract
Impact on quality of life due to inherited skin diseases (also known as genodermatoses) may lead to reproductive dilemmas for affected couples or individuals considering parenthood. Currently, little is known about reproductive decision-making (RDM) for those affected by or at-risk of genodermatoses. Couples/individuals’ perspectives with genodermatoses were qualitatively explored by focusing on (i) the impact of these diseases on the desire to have children, (ii) the knowledge of different reproductive options
and personal considerations and, (iii) experiences with reproductive counselling. Semi-structured interviews were conducted with participants aged ≥16 years, diagnosed with a genodermatosis, and an active, (un)fulfilled or future desire to have children and analysed using a reflexive thematic content approach. Thirty participants were interviewed until saturation. Two main themes and 9 subthemes were identified. Participants preferred wanting to avoid passing on their genodermatosis to offspring, thereby complicating
RDM. This preference was influenced by negative experiences with the disease, resulting in fear and uncertainty about severe manifestations in offspring. Positives and shortcomings in clinical practice were expressed, particularly the lack of reproductive counselling as a standard part of care. This study highlights the substantial impact of genodermatoses in RDM and the importance of
routine reproductive counselling for those affected by or at-risk of genodermatoses.
Downloads
References
Redshaw M, Martin CR. Reproductive decision-making, prenatal attachment and early parenting. J Reprod Infant Psychol 2011; 29: 195–196. DOI: https://doi.org/10.1080/02646838.2011.614106
Rice WS, Turan B, Stringer KL, Helova A, White K, Cockrill K, et al. Norms and stigma regarding pregnancy decisions during an unintended pregnancy: development and predictors of scales among young women in the U.S. South. PLoS One 2017; 12: e0174210. DOI: https://doi.org/10.1371/journal.pone.0174210
Fennell JL. Men bring condoms, women take pills: men’s and women’s roles in contraceptive decision making. Gend Soc 2011; 25: 496–521. DOI: https://doi.org/10.1177/0891243211416113
Severijns Y, de Die-Smulders CEM, Gültzow T, de Vries H, van Osch LADM. Hereditary diseases and child wish: exploring motives, considerations, and the (joint) decision-making process of genetically at-risk couples. J Commun Genet 2021; 12: 325–335. DOI: https://doi.org/10.1007/s12687-021-00510-x
Pavlis MB, Rice ZP, Veledar E, Bradley BR, Spraker MK, Chen SC. Quality of life of cutaneous disease in the ectodermal dysplasias. Pediatr Dermatol 2010; 27: 260–265. DOI: https://doi.org/10.1111/j.1525-1470.2010.01121.x
van Veen FCAP, Rossel V, Steijlen PM, Moser A, Veldman K, van Geel M, et al. The perceived quality of life in adult patients with inherited ichthyosis: a qualitative interview study. Br J Dermatol 2025; 192: 553–555. DOI: https://doi.org/10.1093/bjd/ljae436
Sangha N, MacLellan AN, Pope E. Psychosocial impact of epidermolysis bullosa on patients: a qualitative study. Pediatr Dermatol 2021; 38: 819–824. DOI: https://doi.org/10.1111/pde.14656
Fryze M, Mlak R, Kulbaka A, Wertheim-Tysarowska K, Matosiuk D, Pietrzak A. Increased risk of anxiety and coping strategies in patients with selected genodermatoses with cornification disruption. Sci Rep 2025; 15: 14013. DOI: https://doi.org/10.1038/s41598-025-98535-6
Sun Q, Burgren NM, Cheraghlou S, Paller AS, Larralde M, Bercovitch L, et al. The genomic and phenotypic landscape of ichthyosis: an analysis of 1000 kindreds. JAMA Dermatol 2022; 158: 16–25. DOI: https://doi.org/10.1001/jamadermatol.2021.4242
Fassihi H, Eady RAJ, Mellerio JE, Ashton GHS, Dopping-Hepenstal PJC, Denyer JE, et al. Prenatal diagnosis for severe inherited skin disorders: 25 years’ experience. Br J Dermatol 2006; 154: 106–113. DOI: https://doi.org/10.1111/j.1365-2133.2005.07012.x
McGrath JA, Handyside AH. Preimplantation genetic diagnosis of severe inherited skin diseases. Exp Dermatol 1998; 7: 65–72. DOI: https://doi.org/10.1111/j.1600-0625.1998.tb00305.x
Zucchi D, Marinello D, Tani C, Fulvio G, Aguilera S, Benachi A, et al. Pregnancy-related issues in rare and low-prevalence diseases: results of ERN transversal working group on pregnancy and family planning survey. Orphanet J Rare Dis 2025; 20: 112. DOI: https://doi.org/10.1186/s13023-024-03435-z
O’Brien BC, Harris IB, Beckman TJ, Reed DA, Cook DA. Standards for reporting qualitative research: a synthesis of recommendations. Acad Med 2014; 89: 1245–1251. DOI: https://doi.org/10.1097/ACM.0000000000000388
Tong A, Sainsbury P, Craig J. Consolidated criteria for reporting qualitative research (COREQ): a 32-item checklist for interviews and focus groups. Int J Qual Health Care 2007; 19: 349–357. DOI: https://doi.org/10.1093/intqhc/mzm042
Paller AS, Teng J, Mazereeuw-Hautier J, Hernández-Martín Á, Granier Tournier C, Hovnanian A, et al. Syndromic epidermal differentiation disorders: a new classification toward pathogenesis-based therapy. Br J Dermatol 2025; 193: 592–618. DOI: https://doi.org/10.1093/bjd/ljaf123
Akiyama M, Choate K, Hernandez-Martin A, Aldwin-Easton M, Bodemer C, Gostyński A, et al. Nonsyndromic epidermal differentiation disorders: new classification and nomenclature based on disease-associated genes leading to targeted therapy. Br J Dermatol 2025; 10: ljaf154.
Sprecher E, Ishida-Yamamoto A, Schwartz J, Akiyama M, Aldwin-Easton M, Choate K, et al. Palmoplantar epidermal differentiation disorders: a new classification toward pathogenesis-based therapy. Br J Dermatol 2025; 193: 364–380. DOI: https://doi.org/10.1093/bjd/ljaf054
Has C, Bauer JW, Bodemer C, Bolling MC, Bruckner-Tuderman L, Diem A, et al. Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility. Br J Dermatol 2020; 183: 614–627. DOI: https://doi.org/10.1111/bjd.18921
Wright JT, Fete M, Schneider H, Zinser M, Koster MI, Clarke AJ, et al. Ectodermal dysplasias: classification and organization by phenotype, genotype and molecular pathway. Am J Med Genet A 2019; 179: 442–447. DOI: https://doi.org/10.1002/ajmg.a.61045
Karalis A, Tischkowitz M, Millington GWM. Dermatological manifestations of inherited cancer syndromes in children. Br J Dermatol 2011; 164: 245–256. DOI: https://doi.org/10.1111/j.1365-2133.2010.10100.x
Al Fares A, Millington GWM, Tischkowitz M. Dermatological features of inherited cancer syndromes in adults. Clin Exp Dermatol 2010; 35: 462–467. DOI: https://doi.org/10.1111/j.1365-2230.2010.03811.x
de Winter JP, Toelen J, Milani GP, Hadjipanayis A, EAP Collaborators. A survey of the legal frameworks on medical decision-making in minors in European countries. Eur J Pediatr 2024; 184: 43. DOI: https://doi.org/10.1007/s00431-024-05836-5
Gietel-Habets JJG, de Die-Smulders CEM, Derks-Smeets IAP, Tibben A, Tjan-Heijnen VCG, van Golde R, et al. Support needs of couples with hereditary breast and ovarian cancer during reproductive decision making. Psychooncology 2018; 27: 1795–1801. DOI: https://doi.org/10.1002/pon.4729
Klitzman R, Thorne D, Williamson J, Chung W, Marder K. Decision-making about reproductive choices among individuals at-risk for Huntington’s disease. J Genet Couns 2007; 16: 347–362. DOI: https://doi.org/10.1007/s10897-006-9080-1
Leo B, Schneider H, Hammersen J. Reproductive decision-making by women with X-linked hypohidrotic ectodermal dysplasia. J Eur Acad Dermatol Venereol 2022; 36: 1863–1870. DOI: https://doi.org/10.1111/jdv.18267
Quinn GP, Pal T, Murphy D, Vadaparampil ST, Kumar A. High-risk consumers’ perceptions of preimplantation genetic diagnosis for hereditary cancers: a systematic review and meta-analysis. Genet Med 2012; 14: 191–200. DOI: https://doi.org/10.1038/gim.0b013e31822ddc7e
Swainson E, Tutty E, Freeman L, Dive L, McClaren BD, Archibald AD. Perceptions of severity and their influence on reproductive decision-making following reproductive genetic carrier screening. Eur J Hum Genet 2025; 33: 199–207. DOI: https://doi.org/10.1038/s41431-024-01742-4
Onnekink AM, Klatte DCF, van Hooft JE, van den Berg SH, van der Zwaan SMS, van Doorn R, et al. Attitudes toward genetic testing, family planning and preimplantation genetic testing in families with a germline CDKN2A pathogenic variant. Fam Cancer 2024; 23: 255–265. DOI: https://doi.org/10.1007/s10689-024-00401-3
Kimonis VE, Goldstein AM, Pastakia B, Yang ML, Kase R, DiGiovanna JJ, et al. Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome. Am J Med Genet 1997; 69: 299–308. DOI: https://doi.org/10.1002/(SICI)1096-8628(19970331)69:3<299::AID-AJMG16>3.0.CO;2-M
Mathias SD, Chren MM, Colwell HH, Yim YM, Reyes C, Chen DM, et al. Assessing health-related quality of life for advanced basal cell carcinoma and basal cell carcinoma nevus syndrome: development of the first disease-specific patient-reported outcome questionnaires. JAMA Dermatol 2014; 150: 169–176. DOI: https://doi.org/10.1001/jamadermatol.2013.5870
Verkouteren BJA, Cosgun B, Reinders MGHC, Kessler PAWK, Vermeulen RJ, Klaassens M, et al. A guideline for the clinical management of basal cell naevus syndrome (Gorlin-Goltz syndrome). Br J Dermatol 2022; 186: 215–226. DOI: https://doi.org/10.1111/bjd.20700
Betancourt NJ, Qian MF, Pickford JR, Bailey-Healy I, Tang JY, Teng JMC. Gorlin syndrome: assessing genotype-phenotype correlations and analysis of early clinical characteristics as risk factors for disease severity. J Clin Oncol 2022; 40: 2119–2127. DOI: https://doi.org/10.1200/JCO.21.02385
Klatte DCF, Boekestijn B, Wasser MNJM, Feshtali Shahbazi S, Ibrahim IS, Mieog JSD, et al. Pancreatic cancer surveillance in carriers of a germline CDKN2A pathogenic variant: yield and outcomes of a 20-year prospective follow-up. J Clin Oncol 2022; 40: 3267–3277. DOI: https://doi.org/10.1200/JCO.22.00194
Bishop DT, Demenais F, Goldstein AM, Bergman W, Bishop JN, Bressac-de Paillerets B, et al. Geographical variation in the penetrance of CDKN2A mutations for melanoma. J Natl Cancer Inst 2002; 94: 894–903. DOI: https://doi.org/10.1093/jnci/94.12.894
Halk AB, Potjer TP, Kukutsch NA, Vasen HFA, Hes FJ, van Doorn R. Surveillance for familial melanoma: recommendations from a national centre of expertise. Br J Dermatol 2019; 181: 594–596. DOI: https://doi.org/10.1111/bjd.17767
Helgadottir H, Tuominen R, Olsson H, Hansson J, Höiom V. Cancer risks and survival in patients with multiple primary melanomas: association with family history of melanoma and germline CDKN2A mutation status. J Am Acad Dermatol 2017; 77: 893–901. DOI: https://doi.org/10.1016/j.jaad.2017.05.050
Dervin T, Ranisavjevic N, Laot L, Mayeur A, Duperier C, Steffann J, et al. Knowledge, acceptability and personal attitude toward pre-implantation 1 genetic testing (PGT) and pre-natal diagnosis (PND) for females carrying BRCA pathogenic variant according to fertility preservation experience. J Assist Reprod Genet 2023; 40: 1381–1390. DOI: https://doi.org/10.1007/s10815-023-02798-9
Dason ES, Drost L, Greenblatt EM, Scheer AS, Han J, Sobel M, et al. Providers’ perspectives on the reproductive decision-making of BRCA-positive women. BMC Womens Health 2022; 22: 506. DOI: https://doi.org/10.1186/s12905-022-02093-2
Suter SM. The tyranny of choice: reproductive selection in the future. J Law Biosci 2018; 5: 262–300. DOI: https://doi.org/10.1093/jlb/lsy014
Severijns Y, Heijmans MWF, de Die-Smulders CEM, Bijlsma EK, Corsten-Janssen N, Joosten SJR, et al. The effects of an online decision aid to support the reproductive decision-making process of genetically at risk couples-A pilot study. J Genet Couns 2023; 32: 153–165. DOI: https://doi.org/10.1002/jgc4.1631
Additional Files
Published
How to Cite
License
This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
All digitalized ActaDV contents is available freely online. The Society for Publication of Acta Dermato-Venereologica owns the copyright for all material published until volume 88 (2008) and as from volume 89 (2009) the journal has been published fully Open Access, meaning the authors retain copyright to their work.
Unless otherwise specified, all Open Access articles are published under CC-BY-NC licences, allowing third parties to copy and redistribute the material in any medium or format and to remix, transform, and build upon the material for non-commercial purposes, provided proper attribution to the original work.
