On epidemiology of congenital ichthyosis in Moscow
https://doi.org/10.33667/2078-5631-2021-18-59-62
Abstract
Ichthyosis is an extensive group of hereditary skin diseases characterized by keratinization disorders of the type of hyperkeratosis, which leads to the formation of scales on the skin resembling fish scales. Of all hereditary diseases of keratinization, ichthyosis is the most common disease. In many countries, there are various support groups for patients with ichthyosis, in particular, the All-Russian Charity Foundation for Helping Children with Ichthyosis, the Children- Butterflies Foundation, the Public Organization Support for People with Ichthyosis (Russia), the Foundation for Ichthyosis and Related Skin Types (USA), etc.
Objective. To assess the dynamics of the incidence of congenital ichthyosis in the city of Moscow among the population of all age groups for 2015–2020, according to the data of the Moscow Scientific and Practical Centre for Dermatovenerology and Cosmetology (Russia).
Materials and methods. Using federal statistical observation form No. 12 ‘Information on the number of diseases registered in patients living in the service area of a medical organization’, approved by the order of Rosstat No. 679 dated November 22, 2019, we analyzed the incidence of congenital ichthyosis in Moscow for 2015–2020.
Results. Analysis of data on the incidence of congenital ichthyosis in the context of age groups of the population of the city of Moscow for 2015–2020 showed a trend towards an increase in the incidence of congenital ichthyosis. The increase in the incidence of ichthyosis was detected in almost all age groups of the city's population and was most pronounced in 2018 and 2019 in comparison with the previous time interval.
Conclusions. The revealed increase in the incidence of congenital ichthyosis in Moscow may be due to both the true number of cases and the improvement in the quality and availability of primary specialized health care. An important trend is towards wider implementation in medical practice methods, which make it possible to identify a specific genetic defect, to carry out prenatal diagnostics during pregnancy, an intravital histological (pathological-anatomical) study of a skin biopsy, if necessary, differential diagnosis and verification of the diagnosis, as well as genetic counseling of parents, including to assess the birth of children with ichthyosis during pregnancy.
About the Authors
O. O. MelnichenkoRussian Federation
Melnichenko O. O., PhD Med, dermatovenerologist
Moscow
O. V. Zhukova
Russian Federation
Zhukova O. V., DM Sci, prof., chief doctor, head of Dept of Skin and Venereal Diseases of Medical Institute
Moscow
O. L. Novozhilova
Russian Federation
Novozhilova O. L., deputy chief doctor for organizational and methodological work
Moscow
I. M. Korsunskaya
Russian Federation
Korsunskaya I. M., DM Sci, prof., chief researcher, head of Laboratory of Physicochemical and Genetic Problems of Dermatology
Moscow
References
1. E. V. Dvoryankova, O. O. Melnichenko, V. N. Krasnikova, I. M. Korsunskaya. Ichthyosis. What is important for a specialist to know. Russian medical journal. Medical Review. Dermatology No. 12, 2019: 25–30.
2. Wells RS, Kerr CB. Genetic classification of ichthyosis. Arch Dermatol. 1965 Jul; 92 (1): 1–6. PMID: 11850936.
3. Schnyder UW, Konrad B. Zur Histogenetik der Ichthyosen [On the histogenesis of ichthyoses]. Hautarzt. 1967 Oct; 18 (10): 445–50. German. PMID: 5592763.
4. Takeichi T, Akiyama M. Inherited ichthyosis: Non-syndromic forms. J Dermatol. 2016 Mar; 43 (3): 242–51. DOI: 10.1111/1346–8138.13243. PMID: 26945532.
5. Skripkin Yu.K., Mordovtsev V. N. Skin and Venereal Diseases: A Guide for Physicians. In 2 volumes. 2nd ed., Rev. and add. T. 2.M.: Medicine, 1999. 880 p.
6. Kriazheva SS, Vedrova IN, Eletskiy AIu. Kliniko-geneticheskie osobennosti razlichnykh form ikhtioza [Clinico-genetic chracteristics of different types of ichthyosis]. Vestn Dermatol Venerol. 1977 Sep; (9): 17–23. Russian. PMID: 930319.
7. Вулф К., Джонсон Р., Сюрмонд Д. Дерматология по Томасу Фицпатрику. Атлас-справочник. Второе русское издание. Пер. с англ. М., Практика, 2007. 1248 стр., 857 цв. илл. 98–117, 214–221. The McGrow-Hill Companies, 2005. Wolfe K., Johnson R., Surmond D. Dermatology by Thomas Fitzpatrick. Atlas-reference. Second Russian edition. Per. from English M., Praktika, 2007. 1248 p., 857 col. ill. 98–117, 214–221. The McGrow-Hill Companies, 2005.
8. Federal clinical guidelines. Dermatovenereology 2015: Skin diseases. Sexually transmitted infections. 5th ed., Rev. and add. Moscow: Business Express, 2016.768 p.
9. Dorf IL, Sommerlund M, Koppelhus U. [Ichthyosis vulgaris]. Ugeskr Laeger. 2020 Apr 20; 182 (17): V10190611. Danish. PMID: 32400366.
10. Oji V., Tadini G., Akiyama M. et al. Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009. J Am Acad Dermatol. 2010 Oct; 63 (4): 607–641.
11. Irvine AD, McLean WH, Leung DY. Filaggrin mutations associated with skin and allergic diseases. N Engl J Med. 2011 Oct 6; 365 (14): 1315–27. DOI: 10.1056/NEJMra1011040. PMID: 21991953.
12. McLean WH. Filaggrin failure – from ichthyosis vulgaris to atopic eczema and beyond. Br J Dermatol. 2016 Oct; 175 Suppl 2 (Suppl Suppl 2): 4–7. DOI: 10.1111/bjd.14997. PMID: 27667308. PMCID: PMC 5053269.
13. Melnichenko O. O., Smolkina O. Yu., Krasnikova V. N., A. L. Piruzyan, I. M. Korsunskaya On the question of the combination of atopic dermatitis and ichthyosis vulgaris. Pediatrics (Supplement to the journal Consilium Medicum) 2019; 4: 11–15.
14. Thyssen JP, Godoy-Gijon E, Elias PM. Ichthyosis vulgaris: the filaggrin mutation disease. Br J Dermatol. 2013 Jun; 168 (6): 1155–66. DOI: 10.1111/bjd.12219. Epub 2013 May 6. PMID: 23301728. PMCID: PMC 6317863.
15. Crane JS, Paller AS. Ichthyosis X–Linked. 2020 Sep 22. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2020 Jan. PMID: 28846233.
16. Diociaiuti A, Angioni A, Pisaneschi E, Alesi V, Zambruno G, Novelli A, El Hachem M. X-linked ichthyosis: Clinical and molecular findings in 35 Italian patients. Exp Dermatol. 2019 Oct; 28 (10): 1156–1163. DOI: 10.1111/exd.13667. Epub 2018 Jul 2. PMID: 29672931.
17. Traupe H, Fischer J, Oji V. Nonsyndromic types of ichthyoses – an update. J Dtsch Dermatol Ges. 2014 Feb; 12 (2): 109–21. DOI: 10.1111/ddg.12229. Epub 2013 Oct 11. PMID: 24119255.
18. Takeda M, Nomura T, Sugiyama T, Miyauchi T, Suzuki S, Fujita Y, Shimizu H. Compound heterozygous missense mutations p.Leu207Pro and p.Tyr544Cys in TGM1 cause a severe form of lamellar ichthyosis. J Dermatol. 2018 Dec; 45 (12): 1463–1467. DOI: 10.1111/1346–8138.14675. Epub 2018 Oct 10. PMID: 30302839.
19. Akiyama M, Sawamura D, Shimizu H. The clinical spectrum of nonbullous congenital ichthyosiform erythroderma and lamellar ichthyosis. Clin Exp Dermatol. 2003 May;28(3):235–40. doi: 10.1046/j.1365–2230.2003.01295.x. PMID: 12780701.
20. Hotz A, Oji V, Bourrat E, Jonca N, Mazereeuw-Hautier J, Betz RC, Blume-Peytavi U, Stieler K, Morice-Picard F, Schönbuchner I, Markus S, Schlipf N, Fischer J. Expanding the Clinical and Genetic Spectrum of KRT1, KRT2 and KRT10 Mutations in Keratinopathic Ichthyosis. Acta Derm Venereol. 2016 May; 96 (4): 473–8. DOI: 10.2340/00015555–2299. PMID: 26581228.
21. Peter Rout D, Nair A, Gupta A, Kumar P. Epidermolytic hyperkeratosis: clinical update. Clin Cosmet Investig Dermatol. 2019 May 8; 12: 333–344. DOI: 10.2147/CCID.S 166849. PMID: 31190940. PMCID: PMC 6512611.
22. Akiyama M. Updated molecular genetics and pathogenesis of ichthiyoses. Nagoya J Med Sci. 2011 Aug; 73 (3–4): 79–90. PMID: 21928690. PMCID: PMC 4831217.
23. Glick JB, Craiglow BG, Choate KA, Kato H, Fleming RE, Siegfried E, Glick SA. Improved Management of Harlequin Ichthyosis With Advances in Neonatal Intensive Care. Pediatrics. 2017 Jan; 139 (1): e20161003. DOI: 10.1542/peds.2016–1003. Epub 2016 Dec 20. PMID: 27999114.
Review
For citations:
Melnichenko O.O., Zhukova O.V., Novozhilova O.L., Korsunskaya I.M. On epidemiology of congenital ichthyosis in Moscow. Medical alphabet. 2021;(18):59-62. (In Russ.) https://doi.org/10.33667/2078-5631-2021-18-59-62