Darya's disease: rare dermatosis with complicated manifestations

Abstract

The pathogenesis of the disease is associated with mutations in the ATP2A2 gene of chromosome 12q23-24, which disrupt intracellular calcium metabolism. COVID-19 infection is known to cause a cytokine storm characterized by increased levels of tumor necrosis factor (TNF), interleukin (IL) 6 and 1β. TNF and IL-6 additionally reduce the activity of type 2 calcium ATPase in patients with Darye's disease. The typical clinical picture of rare hereditary dermatosis is characterized by hyperkeratotic papules located in seborrheic zones. Papules tend to fuse to form plaques. The surfaces of the palms and soles are also a frequent localization of the pathological process. Papules may grow into hypertrophic vegetations, damage to nails and oral mucosa, and the addition of secondary bacterial and viral infections. The typical course is of a continuous progressive nature with periods of exacerbation and incomplete remission. Systemic retinoids are the basis of therapy for Darye's disease. In addition, glucocorticosteroids and cyclosporine are systematically used. Local therapy includes keratolytic and antiseptic drugs, emollients.

A case of clinical observation of a 39-year-old patient with Darye's disease is presented. The diagnosis was made based on the analysis of complaints, anamnesis, objective and local status, dermatoscopic picture, laboratory and histological examination. Against the background of ongoing therapy, the patient was discharged with clinical improvement and continues treatment on an outpatient basis.

The clinical observation of this case is of interest to practicing dermatovenerologists.

Keywords

acantholytic dermatosis / follicular dyskeratosis / hyperkeratotic papule / systemic retinoids / clinical case

References

[1] Rogner DF, Lammer J, Zink A, Hamm H. Darier and Hailey-Hailey disease: Update 2021. J Dtschen Dermatologichen Gesellschaft. 2021;19(10):1478–1501. EDN: OXQUZV doi: 10.1111/ddg.14619

[2] Rogner D.F., Lammer J., Zink A., Hamm H. Darier and Hailey-Hailey disease: Update 2021 // J Dtschen Dermatologichen Gesellschaft. 2021. Vol. 19, N 10. P. 1478–1501. EDN: OXQUZV doi: 10.1111/ddg.14619

[3] Savignac M, Edir A, Simon M, Hovnanian A. Darier disease: A disease model of impaired calcium homeostasis in the skin. Biochimica Biophysica Acta. 2011;1813(5):1111–1117. EDN: OANIEZ doi: 10.1016/j.bbamcr.2010.12.006

[4] Savignac M., Edir A., Simon M., Hovnanian A. Darier disease: A disease model of impaired calcium homeostasis in the skin // Biochimica et Biophysica Acta. 2011. Vol. 1813, N 5. P. 1111–1117. EDN: OANIEZ doi: 10.1016/j.bbamcr.2010.12.006

[5] Takagi A, Kamijo M, Ikeda S. Darier disease. J Dermatol. 2016;43(3):275–279. doi: 10.1111/1346-8138.13230

[6] Takagi A., Kamijo M., Ikeda S. Darier disease // J Dermatol. 2016. Vol. 43, N 3. P. 275–279. doi: 10.1111/1346-8138.13230

[7] Bachar-Wikstrom E, Curman P, Ahanian T, et al. Darier disease is associated with heart failure: A cross-sectional case-control and population-based study. Sci Rep. 2020;10(1):6886. EDN: ITTMCP doi: 10.1038/s41598-020-63832-9

[8] Bachar-Wikstrom E., Curman P., Ahanian T., et al. Darier disease is associated with heart failure: A cross-sectional case-control and population based study // Sci Rep. 2020. Vol. 10, N 1. P. 6886. EDN: ITTMCP doi: 10.1038/s41598-020-63832-9

[9] Bachar-Wikström E, Wikström JD. Darier disease: A multi-organ condition? Acta Dermato-Venereologica. 2021;101(4):adv00430. doi: 10.2340/00015555-3770

[10] Bachar-Wikström E., Wikström J.D. Darier disease: A multi-organ condition? // Acta Dermato-Venereologica. 2021. Vol. 101, N 4. P. adv00430. doi: 10.2340/00015555-3770

[11] Cederlöf M, Curman P, Ahanian T, et al. Darier disease is associated with type 1 diabetes: Findings from a population-based cohort study. J Am Acad Dermatol. 2019;81(6):1425–1426. doi: 10.1016/j.jaad.2019.05.087

[12] Cederlöf M., Curman P., Ahanian T., et al. Darier disease is associated with type 1 diabetes: Findings from a population-based cohort study // J Am Acad Dermatol. 2019. Vol. 81, N 6. P. 1425–1426. doi: 10.1016/j.jaad.2019.05.087

[13] Hanna N, Lam M, Fleming P, Lynde CW. Therapeutic options for the treatment of Darier’s disease: A comprehensive review of the literature. J Cutaneous Med Surg. 2022;26(3):280–290. doi: 10.1177/12034754211058405

[14] Hanna N., Lam M., Fleming P., Lynde C.W. Therapeutic options for the treatment of Darier’s disease: A comprehensive review of the literature // J Cutaneous Med Surg. 2022. Vol. 26, N 3. P. 280–290. doi: 10.1177/12034754211058405

[15] Haber RN, Dib NG. Management of Darier disease: A review of the literature and update. Indian J Dermatol Venereol Leprology. 2021;87(1):14–21. doi: 10.25259/IJDVL_963_19

[16] Haber R.N., Dib N.G. Management of Darier disease: A review of the literature and update // Indian J Dermatol Venereol Leprology. 2021. Vol. 87, N 1. P. 14–21. doi: 10.25259/IJDVL_963_19

[17] Curman P, Bern J, Sand L, et al. Patients with Darier disease exhibit cognitive impairment while patients with Hailey-Hailey disease do not: An experimental, matched case-control study. Acta Dermato-Venereologica. 2021;101(6):adv00476. EDN: WBQGYY doi: 10.2340/00015555-3818

[18] Curman P., Bern J., Sand L., et al. Patients with Darier disease exhibit cognitive impairment while patients with Hailey-Hailey disease do not: An experimental, matched case-control study // Acta Dermato-Venereologica. 2021. Vol. 101, N 6. P. adv00476. EDN: WBQGYY doi: 10.2340/00015555-3818

[19] Dykes R, Ergen E, Martin T, Coleman N. Exacerbation of Darier’s disease with COVID-19. JAAD Case Rep. 2022;27:64–66. doi: 10.1016/j.jdcr.2022.06.037

[20] Dykes R., Ergen E., Martin T., Coleman N. Exacerbation of Darier’s disease with COVID-19 // JAAD Case Reports. 2022. Vol. 27. P. 64–66. doi: 10.1016/j.jdcr.2022.06.037

[21] Elbaek MV, Vinding GR, Jemec GB. Darier’s disease flare following COVID-19. Vaccine. 2021;13(2):432–436. doi: 10.1159/000517256

[22] Elbaek M.V., Vinding G.R., Jemec G.B. Darier’s disease flare following COVID-19 // Vaccine. 2021. Vol. 13, N 2. P. 432–436. doi: 10.1159/000517256

[23] Burch A, Long T, Garofola C. Linear Darier disease after COVID-19 infection. JAAD Case Rep. 2022;28:136–137. doi: 10.1016/j.jdcr.2022.08.017

[24] Burch A., Long T., Garofola C. Linear Darier disease after COVID-19 infection // JAAD Case Rep. 2022. Vol. 28. P. 136–137. doi: 10.1016/j.jdcr.2022.08.017

[25] Korman AM, Milani-Nejad N. Darier disease. JAMA Dermatol. 2020;156(10):1125. doi: 10.1001/jamadermatol.2020.2543

[26] Korman A.M., Milani-Nejad N. Darier disease // JAMA Dermatology. 2020. Vol. 156, N 10. P. 1125. doi: 10.1001/jamadermatol.2020.2543

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