Incidence and Prevalence of 73 Different Genodermatoses: A Nationwide Study in Sweden
Keywords:epidemiology, genetic skin disease, ichthyosis, incidence, neurofibromatosis, porokeratosis
This retrospective registry-based cohort study aimed to estimate the incidence and prevalence of genodermatoses in the Swedish population and to analyse associated healthcare usage. Patients diagnosed with genodermatoses were identified from the patient registry of Sahlgrenska University Hospital (Gothenburg, Sweden) between 2016 and 2020. Clinical data from medical records were used to verify diagnoses recorded in the National Patient Registry (NPR). The NPR was then searched for International Classification of Diseases, Tenth Revision (ICD-10) codes Q80–82 and Q84 from 2001 to 2020. The local cohort included 298 patients with 36 unique genodermatosis diagnoses. Verification of these diagnoses in the NPR showed positive predictive values of over 90%. The NPR search yielded 13,318 patients with 73 unique diagnoses, including ichthyoses (n = 3,341; 25%), porokeratosis (n = 2,277; 17%), palmoplantar keratodermas (n = 1,754; 13%), the epidermolysis bullosa group (n = 1011; 7%); Darier disease (n = 770; 6%), Hailey-Hailey disease (n = 477; 4%) and Gorlin syndrome (n = 402; 3%). The incidence and prevalence of each diagnosis were calculated based on the nationwide cohort and are reported. A total of 149,538 outpatient visits were registered, a mean of 4.6 visits per patient. This study provides a valuable resource for the epidemiology of genodermatoses by reporting on the incidence and prevalence of 73 different genodermatoses.
Feramisco JD, Sadreyev RI, Murray ML, Grishin NV, Tsao H. Phenotypic and genotypic analyses of genetic skin disease through the Online Mendelian Inheritance in Man (OMIM) database. J Invest Dermatol 2009; 129: 2628-2636.
Online Mendelian Inheritance in Man, OMIM®. McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins Univer sity (Baltimore, MD), 2023. Available from: https://omim.org.
Chiu FP, Doolan BJ, McGrath JA, Onoufriadis A. A decade of next-generation sequencing in genodermatoses: the impact on gene discovery and clinical diagnostics. Br J Dermatol 2021; 184: 606-616.
International Statistical Classification of Diseases and Related Health Problems 10th Revision. World Health Organization, 2019. Available from: https://icd.who.int/browse10/2019/en.
European Commission; an official website of the European Union. Rare Diseases. Available from: https://ec.europa.eu/health/non-communicable-diseases/steering-group/rare-diseases_en.
Krug M, Oji V, Traupe H, Berneburg M. Ichthyoses - part 2: congenital ichthyoses. J Dtsch Dermatol Ges 2009; 7: 577-588. DOI: https://doi.org/10.1111/j.1610-0387.2008.06970_supp.x
Wells RS, Kerr CB. Clinical features of autosomal dominant and sex-linked ichthyosis in an English population. Br Med J 1966; 1: 947-950.
Cooper SM, Burge SM. Darier's disease: epidemiology, pathophysiology, and management. Am J Clin Dermatol 2003; 4: 97-105.
Curman P, Bern J, Sand L, Cederlöf M, Bachar-Wikström E, Wikström JD. Patients with Darier Disease exhibit cognitive impairment while patients with Hailey-Hailey disease do not: an experimental, matched case-control study. Acta Derm Venereol 2021; 101: adv00476.
Kallionpää RA, Valtanen M, Auranen K, Uusitalo E, Rinne JO, Peltonen S, et al. Increased risk for dementia in neurofibromatosis type 1. Genet Med 2021; 23: 2219-2222.
Ahanian T, Curman P, Leong IUS, Brismar K, Bachar-Wikstrom E, Cederlöf M, et al. Metabolic phenotype in Darier disease: a cross-sectional clinical study. Diabetol Metab Syndr 2020; 12: 12.
Ludvigsson JF, Otterblad-Olausson P, Pettersson BU, Ekbom A. The Swedish personal identity number: possibilities and pitfalls in healthcare and medical research. Eur J Epidemiol 2009; 24: 659-667.
Bachar-Wikström E, Wikström JD. Darier disease - a multi-organ condition? Acta Derm Venereol 2021; 101: adv00430.
Ludvigsson JF, Andersson E, Ekbom A, Feychting M, Kim JL, Reuterwall C, et al. External review and validation of the Swedish national inpatient register. BMC Public Health 2011; 11: 450.
Kristensen MH, Schmidt SAJ, Kibsgaard L, Hove H, Sommerlund M, Koppelhus U. Validity of first-time diagnoses of inherited ichthyosis in the Danish National Patient Registry and the Danish Pathology Registry. Clin Epidemiol 2020; 12: 651-657.
Kristensen MH, Schmidt SAJ, Kibsgaard L, Mogensen M, Sommerlund M, Koppelhus U. Validity of first-time diagnoses of congenital epidermolysis bullosa in the Danish National Patient Registry and the Danish Pathology Registry. Clin Epidemiol 2019; 11: 115-124.
Kubo A, Sasaki T, Suzuki H, Shiohama A, Aoki S, Sato S, et al. Clonal expansion of second-hit cells with somatic recombinations or C>T transitions form porokeratosis in MVD or MVK mutant heterozygotes. J Invest Dermatol 2019; 139: 2458-66.e9.
Inci R, Zagoras T, Kantere D, Holmström P, Gillstedt M, Polesie S, et al. Porokeratosis is one of the most common genodermatoses and is associated with an increased risk of keratinocyte cancer and melanoma. J Eur Acad Dermatol Venereol 2023; 37: 420-427.
Uusitalo E, Leppävirta J, Koffert A, Suominen S, Vahtera J, Vahlberg T, et al. Incidence and mortality of neurofibromatosis: a total population study in Finland. J Invest Dermatol 2015; 135: 904-906.
Tavadia S, Mortimer E, Munro CS. Genetic epidemiology of Darier's disease: a population study in the west of Scotland. Br J Dermatol 2002; 146: 107-109.
Ben Lagha I, Ashack K, Khachemoune A. Hailey-Hailey disease: an update review with a focus on treatment data. Am J Clin Dermatol 2020; 21: 49-68.
Harjama L, Karvonen V, Kettunen K, Elomaa O, Einarsdottir E, Heikkilä H, et al. Hereditary palmoplantar keratoderma - phenotypes and mutations in 64 patients. J Eur Acad Dermatol Venereol 2021; 35: 1874-1880.
Verma R, Bhatnagar A, Vasudevan B, Kumar S. Keratosis follicularis spinulosa decalvans. Indian J Dermatol Venereol Leprol 2016; 82: 214-216.
Cantu JM, Hernandez A, Larracilla J, Trejo A, Macotela-Ruiz E. A new X-linked recessive disorder with dwarfism, cerebral atrophy, and generalized keratosis follicularis. J Pediatr 1974; 84: 564-567.
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Copyright (c) 2023 Theofanis Zagoras, Rahime Inci, Despoina Kantere, Peter Holmström, Jenny Broström, Martin Gillstedt, Sam Polesie, Sirkku Peltonen
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