#PAGE_PARAMS# #ADS_HEAD_SCRIPTS# #MICRODATA#

Darier Disease: Current View. Part II.


Authors: M. Důra;  J. Štork
Authors‘ workplace: Dermatovenerologická klinika 1. LF UK a VFN, Praha, přednosta prof. MUDr. Jiří Štork, CSc.
Published in: Čes-slov Derm, 95, 2020, No. 3, p. 87-98
Category: Reviews (Continuing Medical Education)

Overview

Darier disease is a rare genetic disorder, which is greatly influenced by the environmental factors. Apart from the skin involvement the disease could be accompanied by a range of certain complications and comorbidities.

The author presents a comprehensive review of this disease. First part summarizes history, epidemiology, course, prognosis, clinical presentation including its extracutaneous involvement, segmental Darier disease, atypical variants, dermoscopy, histopathology, complications and comorbidities. Second part thoroughly covers etiopathogenesis, differential diagnostics and current therapeutic options. The review also deals with an allelic disease called acrokeratosis verruciformis Hopfi.

Causal treatment of this genodermatosis is not known to date, nevertheless the deteriorated qualilty of patient’s life could be highly improved by lifestyle changes and by setting of the accessible treatment.

Keywords:

Darier disease – histopathology – differential diagnosis – therapy


Sources

1.    ABE, M., YASUDA, M., YOKOYAMA, Y. et al. Successful treatment of combination therapy with tacalcitol lotion associated with sunscreen for localized Darier‘s disease. J Dermatol, 2010, 37(8), p. 718–721.

2.    ABRAHAM, S., JONES, A., TOUTOUS-TRELLU, L. et al. Linear Darier disease with herpes zoster superinfection treated successfully by brivudine. Br J Dermatol, 2006, 154(2), p. 365–367.

3.    AKINSHEMOYIN VAUGHN, O., HINSHAW, M. A., TENG, J. M. Acantholytic dyskeratotic epidermal nevus. JAMA Dermatol, 2015, 151(11), p. 1259–1260.

4.    BENÁKOVÁ, N., VAŠKŮ, V. Retinoidy v dermatologii. Čes-slov Derm, 2017, 92(3), s. 111–122.

5.    BERK, D. R., TAUBE, J. M., BRUCKNER, A. L. et al. A sporadic patient with acrokeratosis verruciformis of Hopf and a novel ATP2A2 mutation. Br J Dermatol, 2010, 163(3), p. 653–654.

6.    BOEHMER, D., EYERICH, K., DARSOW, U. et al. Variable response to low-dose naltrexone in patients with Darier disease: a case series. J Eur Acad Dermatol Venereol, 2019, 33(5), p. 950–953.

7.    BROWN, V. L., KELLY, S. E., BURGE, S. M. et al. Extensive recalcitrant Darier disease successfully treated with laser ablation. Br J Dermatol, 2010, 162(1), p. 227–229.

8.     CANNAROZZO, G., BONCIANI, D., SANNINO, M. et al. Dye laser treatment for Darier disease: results of a case series. Photomed Laser Surg, 2016, 34(7), p. 305–307.

9.     CRADDOCK, N., DAWSON, E., BURGE, S. et al. The gene for Darier‘s disease maps to chromosome 12q23-q24.1. Hum Mol Genet, 1993, 2(11), p. 1941–1943.

10. 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), p. 229–232.

11. DOGAN, S., KARADUMAN, A., ERKIN, G. et al. Effective treatment of linear Darier‘s disease with topical retinoids: case report and review of the literature. Acta Dermatovenerol Croat, 2011, 19(3), p. 206–209.

12. EXADAKTYLOU, D., KURWA, H. A., CALONJE, E. et al. Treatment of Darier‘s disease with photodynamic therapy. Br J Dermatol, 2003, 149(3), p. 606–610.

13. FÖLSTER-HOLST, R., NELLEN, R. G., JENSEN, J. M. et al. Molecular genetic support for the rule of dichotomy in type 2 segmental Darier disease. Br J Dermatol, 2012, 166(2), p. 464–466.

14. GLINOS, G., PASTAR, I., TOMIC-CANIC, M. et al. Mislocalization of adherens junction-associated proteins in a patient with Darier disease. Skin, 2018, 2(3), p. 194–201.

15. GOH, B., KUMARASINGHE, P., LEE, Y. Loss of melanosome transfer accounts for guttate leukoderma in Darier’s disease: electron microscopic findings. Pigment Cell Res, 2005, 18, p. 48.

16. GOH, B. K., KUMARASINGHE, S. P., NG, S. K. Two Singaporean cases of guttate leucoderma in Darier‘s disease. Clin Exp Dermatol, 2004, 29(3), p. 313–314.

17. 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), p. 717–726.

18. GROVER, R. W. Transient acantholytic dermatosis. Arch Dermatol, 1970, 101, p. 426–434.

19. HAILEY, H., HAILEY, H. Familial benign chronic pemphigus. Arch Dermatol, 1939, 39, p. 679–685.

20. HARBOE, T. L., WILLEMS, P., JESPERSGAARD, C. et al. Mosaicism in segmental Darier disease: an in-depth molecular analysis quantifying proportions of mutated alleles in various tissues. Dermatology, 2011, 222(4), p. 292–296.

21. HASHIMOTO, K., FUJIWARA, K., TADA, J. et al. Desmosomal dissolution in Grover‘s disease, Hailey-Hailey‘s disease and Darier‘s disease. J Cutan Pathol, 1995, 22(6), p. 488–501.

22. HUGHES, A., MEHREGAN, D. Nevoid hyperkeratosis of the nipple and areola in a man. JAAD, 2005, 52(3), p. 55.

23. ITIN, P. H., HAPPLE, R. Darier disease with paired segmental manifestation of either excessive or absent involvement: a further step in the concept of twin spotting. Dermatology, 2002, 205(4), p. 344–347.

24. KAMIJO, M., NISHIYAMA, C., TAKAGI, A. et al. Cyclooxygenase-2 inhibition restores ultraviolet B-induced downregulation of ATP2A2/SERCA2 in keratinocytes: possible therapeutic approach of cyclooxygenase-2 inhibition for treatment of Darier disease. Br J Dermatol, 2012, 166(5), p. 1017–1022.

25. KASSAR, S., CHARFEDDINE, C., ZRIBI, H. et al. Immunohistological study of involucrin expression in Darier‘s disease skin. J Cutan Pathol, 2008, 35(7), p. 635–640.

26. KATZ, T. M., FIROZ, B. F., GOLDBERG, L. H. et al. Treatment of Darier‘s disease using a 1,550-nm erbium-doped fiber laser. Dermatol Surg, 2010, 36(1), p. 142–146.

27. KITTRIDGE, A., WAHLGREN, C., FUHRER, R. et al. Treatment of recalcitrant Darier‘s disease with electron beam therapy. Dermatol Ther, 2010, 23(3), p. 302–304.

28. MARTONOSI, A. N., PIKULA, S. The structure of the Ca2+-ATPase of sarcoplasmic reticulum. Acta Biochim Pol, 2003, 50(2), p. 337–365.

29. NAKAMURA, T., KAZUNO, A. A., NAKAJIMA, K. et al. Loss of function mutations in ATP2A2 and psychoses: A case report and literature survey. Psychiatry Clin Neurosci, 2016, 70(8), p. 342–350.

30. NAKANO, M., KAMBE, N., SATOH, T. Dermoscopy of keratosis follicularis squamosa. Dermatol Reports, 2011, 3(2), p. e26.

31. NELLEN, R. G., STEIJLEN, P. M., VAN STEENSEL, M. A. et al. Mendelian disorders of cornification caused by defects in intracellular calcium pumps: mutation update and database for variants in ATP2A2 and ATP2C1 associated with Darier disease and Hailey-Hailey disease. Hum Mutat, 2017, 38(4), p. 343–356.

32. NICKLE, S. B., PETERSON, N., PETERSON, M. Updated physician‘s guide to the off-label uses of oral isotretinoin. J Clin Aesthet Dermatol, 2014, 7(4), p. 22–34.

33. OI-YEE LI, H., COLANTONIO, S., KANIGSBERG, N. Treatment of Darier‘s disease with oral magnesium: a case report. SAGE Open Med Case Rep, 2018, 6, 2050313X18795071.

34. ORFANOS, C. E., KURKA, M., STRUNK, V. Oral treatment of keratosis follicularis with a new aromatic retinoid. Arch Dermatol, 1978, 114(8), p. 1211–1214.

35. OSSORIO-GARCÍA, L., COLLANTES-RODRÍGUEZ, C., Villegas-Romero, I. et al. Vegetating Darier disease treated with botulinum toxin. JAMA Dermatol, 2018, 154(1), p. 106–108.

36. PALACIOS-ÁLVAREZ, I., ANDRÉS-RAMOS, I., SILVA, M. Y. et al. Treatment of Darier‘s disease with diclofenac sodium 3% gel. Dermatol Ther, 2017, 30(3), p. e12478.

37. PEĆINA-SLAUS, N., MILAVEC-PURETIĆ, V., KUBAT, M. et al. Clinical case of acral hemorrhagic Darier‘s disease is not caused by mutations in exon 15 of the ATP2A2 gene. Coll Antropol, 2003, 27(1), p. 125–133.

38. PECK, S. M., CHAGRIN, L., SOBOTKA, H. Keratosis follicularis (Darier‘s disesase): A vitamin A deficiency disease. Arch Derm Syphilol, 1941, 43(2), p. 223–229.

39. PÉREZ-CARMONA, L., FLETA-ASÍN, B., MORENO-GARCÍA-DEL-REAL, C. et al. Successful treatment of Darier‘s disease with topical pimecrolimus. Eur J Dermatol, 2011, 21(2), p. 301–302.

40. PETTIT, C., ULMAN, C. A., SPOHN, G. et al. A case of segmental Darier disease treated with doxycycline monotherapy. Dermatol Online J, 2018, 24(3).

41. PLZÁKOVÁ, Z., ŠTORK, J., ŠLAJSOVÁ, M. Darierova choroba a příbuzné dermatózy. Čes-slov Derm, 2010, 85(6), s. 309–316.

42. PODGORNII, A., CIAMMELLA, P., RAMUNDO, D. et al. Efficacy of the radiotherapy on Darier‘s disease: an indirect evidence. Case Rep Dermatol Med, 2013, 2013, 907802.

43. RASZEWSKA-FAMIELEC, M., DUDRA-JASTRZĘBSKA, M., BORZĘCKI, A. et al. Darier-White disease treated with fractional CO2 laser in two cases. Dermatol Ther, 2015, 28(4), p. 254–257.

44. RODRIGUEZ, L. M., KAZEMI, T., CHENG, C. E. et al. Focal multimodality radiation therapy: A promising treatment for recalcitrant Darier disease. Dermatol Ther, 2018, 31(4), p. e12641.

45. RODRÍGUEZ-PAZOS, L., GOMEZ-BERNAL, S., LOUREIRO, M. et al. Type 2 segmental Darier disease with twin spot phenomenon. J Eur Acad Dermatol Venereol, 2011, 25(4), p. 496–497.

46. RONAN, A., INGREY, A., MURRAY, N. et al. Recurrent ATP2A2 p.(Pro602Leu) mutation differentiates acrokeratosis verruciformis of Hopf from the allelic condition Darier disease. Am J Med Genet A, 2017, 173(7), p. 1975–1978.

47. RUBEGNI, P., POGGIALI, S., SBANO, P. et al. A case of Darier‘s disease successfully treated with topical tacrolimus. J Eur Acad Dermatol Venereol, 2006, 20(1), p. 84–87.

48. SAKUNTABHAI, A., DHITAVAT, J., BURGE, S. et al. Mosaicism for ATP2A2 mutations causes segmental Darier‘s disease. J Invest Dermatol, 2000, 115(6), p. 1144–1147.

49. SAKUNTABHAI, A., RUIZ-PEREZ, V., CARTER, S. et al. Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease. Nat Genet, 1999, 21(3), p. 271–277.

50. SFECCI, A., ORION, C., DARRIEUX, L. et al. Extensive Darier disease successfully treated with doxycycline monotherapy. Case Rep Dermatol, 2015, 7(3), p. 311–315.

51. SCHMIDT, H., OCHSENDORF, F. R., WOLTER, M. et al. Topical 5-fluorouracil in Darier disease. Br J Dermatol, 2008, 158(6), p. 1393–1396.

52. SMIŽANSKÝ-BARI, L., DRLÍK, L., POCK, L. Keratodermia punctata palmaris et plantaris typ 1: popis případu matky a dcery. Čes-slov Derm, 2015, 90(6), p. 243–247.

53. SOENEN, A., SAINT-JEAN, M., DAGUZÉ, J. et al. Combination of alitretinoin and topical 5-fluorouracil in Darier disease. JAAD Case Rep, 2018, 5(1), p. 75–77.

54. TOPAL, I. O., KAMALI, G. H., GOKDEMIR, G. et al. Concomitant Darier‘s disease and Sjögren‘s syndrome. Indian J Dermatol Venereol Leprol, 2014, 80(6), p. 579.

55. VODO, D., MALCHIN, N., FURMAN, M. et al. Identification of a recurrent mutation in ATP2C1 demonstrates that papular acantholytic dyskeratosis and Hailey-Hailey disease are allelic disorders. Br J Dermatol, 2018, 179(4), p. 1001–1002.

56. WANG, J. F., LEDERHANDLER, M. H., BRINSTER, N. et al. Vesiculobullous Darier disease symptomatically responsive to cetirizine. J Drugs Dermatol, 2019, 18(2), p. 213–214.

57. ZAMIRI, M., MUNRO, C. S. Successful treatment with oral alitretinoin in women of childbearing potential with Darier‘s disease. Br J Dermatol, 2013, 169(3), p. 709–710.

Labels
Dermatology & STDs Paediatric dermatology & STDs
Topics Journals
Login
Forgotten password

Enter the email address that you registered with. We will send you instructions on how to set a new password.

Login

Don‘t have an account?  Create new account

#ADS_BOTTOM_SCRIPTS#