Darier’s disease: a case report and review of literature

Authors

  • L. Dourmishev Department of Dermatology and Venereology, Medical University – Sofia, Bulgaria Author https://orcid.org/0000-0001-8458-1241
  • A. Bitolska Department of Dermatology and Venereology, Medical University – Sofia, Bulgaria Author

DOI:

https://doi.org/10.2478/AMB-2026-0013

Keywords:

Darier’s disease, clinical features, diagnosis, treatment

Abstract

Abstract. Introduction: Darier’s disease is an autosomal dominant disorder caused by mutations in the ATP2A2 gene, and clinically presented with hyperkeratotic papules and plaques in a seborrheic region. Clinical Case Description: We observed a 48-year-old male patient who presented with persistent pruritic skin lesions on the trunk and extremities. Physical examination revealed erythematous and hyperkeratotic papules and follicular keratosis. The diagnosis of Darier’s disease was based on the clinical presentation and confirmed with histological examination. Treatment with low-dose methylprednisolone resulted in significant improvement. Discussion and Conclusions: The case highlights the importance of considering Darier’s disease in patients with persistent pruritic skin lesions and emphasizes the need for accurate diagnosis and adequate treatment.

References

Takagi A, Kamijo M, Ikeda S. Darier disease. J Dermatol, 2016, 43(3):275-9.

Papadimitriou GN, Dikeos DG, Souery D, et al. Genetic association between the phospholipase A2 gene and unipolar affective disorder: a multicentre case-control study. Psychiatr Genet, 2003, 13(4):211-20.

Korman AM, Milani-Nejad N. Darier Disease. JAMA Dermatol, 2020, 156(10):1125.

Shwetha V, Sujatha S, Yashoda Devi BK, et al. Spectrum of features in Darier’s disease: a case report with emphasis on differential diagnosis. J Oral Biol Craniofac Res, 2019, 9(2): 215-220.

Cooper SM, Burge SM. Darier’s disease: epidemiology, pathophysiology, and management. Am J Clin Dermatol, 2003, 4(2):97-105.

Khaled A, Ben Hamida M, Goucha S, et al. Bullous Darier’s disease mimicking Hailey-Hailey disease. Dermatol Ther (Heidelb), 2011, 1(2):31-5.

Gupta LK, Garg A, Khare AK, Mittal A. A case of zosteriform Darier’s disease with seasonal recurrence. Indian Dermatol Online J, 2013, 4(3):219-21.

Morin CB, Netchiporouk E, Billick RC, et al. Hypopigmented segmental Darier disease. J Cutan Med Surg, 2015, 19(1):69-72.

Dhitavat J, Macfarlane S, Dode L, et al. Acrokeratosis verruciformis of Hopf is caused by mutation in ATP2A2: evidence that it is allelic to Darier’s disease. J Invest Dermatol, 2003, 120(2):229–232.

Zaias N, Ackerman AB. The nail in Darier-White disease. Arch Dermatol, 1973, 107(2):193-9.

Thiagarajan MK, Narasimhan M, Sankarasubramanian A. Darier disease with oral and esophageal involvement: a case report. Indian J Dent Res, 2011, 22(6):843-6.

Manohar A, Antony M, Tirumalae R, Kalegowda IY. Darier disease: Histopathology revisited. Indian J Pathol Microbiol, 2024, 67(3):615-618.

Dhitavat J, Fairclough RJ, Hovnanian A, et al. Calcium pumps and keratinocytes: lessons from Darier’s disease and Hailey-Hailey disease. Br J Dermatol, 2004, 150(5):821-8.

Burge SM, Garrod DR. An immunohistological study of desmosomes in Darier’s disease and Hailey-Hailey disease. Br J Dermatol, 1991, 124(3):242-51.

Gordon-Smith K, Green E, Grozeva D, et al. Genotype-phenotype correlations in Darier disease: A focus on the neuropsychiatric phenotype. Am J Med Genet B Neuropsychiatr Genet, 2018;177(8):717-726.

Curman P, Jebril W, Larsson H, et al. Darier disease is associated with neurodegenerative disorders and epilepsy. Sci Rep, 2024, 14(1):7109.

Heo EP, Park SH, Yoon TJ, et al. Induction of Darier’s disease by repeated irradiation by ultraviolet B; protection by sunscreen and topical ascorbic acid. J Dermatol, 2002, 29(7):455-8.

Rogner DF, Lammer J, Zink A, et al. Darier and Hailey-Hailey disease: update 2021. J Dtsch Dermatol Ges, 2021, 19(10):1478-1501.

Van Dooren-Greebe RJ, Van de Kerkhof PC, Happle R. Acitretin monotherapy in Darier’s disease. Br J Dermatol, 1989, 121(3):375-9.

Dicken CH, Bauer EA, Hazen PG, et al. Isotretinoin treatment of Darier’s disease. J Am Acad Dermatol, 1982, 6(4 Pt 2 Suppl):721-6.

Zamiri M, Munro CS. Successful treatment with oral alitretinoin in women of childbearing potential with Darier’s disease. Br J Dermatol, 2013, 169(3):709-710.

Sfecci A, Orion C, Darrieux L et al. Extensive Darier Disease Successfully Treated with Doxycycline Monotherapy. Case Rep Dermatol, 2015, 7(3):311-5.

Abe M, Inoue C, Yokoyama Y, et al. Successful treatment of Darier’s disease with adapalene gel. Pediatr Dermatol, 2011, 28(2):197-198.

Oster-Schmidt C. The treatment of Darier’s disease with topical tazarotene. Br J Dermatol, 1999, 141(3):603-4.

Hanna N, Lam M, Fleming P, et al. Therapeutic Options for the Treatment of Darier’s Disease: A Comprehensive Review of the Literature. J Cutan Med Surg, 2022, 26(3):280-290.

Benmously R, Litaiem N, Hammami H, et al. Significant alleviation of Darier’s disease with fractional CO2 laser. J Cosmet Laser Ther, 2015, 17(2):77-9.

Katz TM, Firoz BF, Goldberg LH, et al. Treatment of Darier’s disease using a 1,550-nm erbium-doped fiber laser. Dermatol Surg, 2010, 36(1):142-6.

Downloads

Published

06.02.2026

How to Cite

Dourmishev, L., & Bitolska, A. (2026). Darier’s disease: a case report and review of literature. Acta Medica Bulgarica, 53(Suppl 1), 84-87. https://doi.org/10.2478/AMB-2026-0013