Darier Disease: Current View. Part One.
Authors:
M. Důra; J. Štork
Authors‘ workplace:
Dermatovenerologická klinika 1. LF UK a VFN, přednosta prof. MUDr. Jiří Štork, CSc.
Published in:
Čes-slov Derm, 95, 2020, No. 2, p. 43-56
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 authors present 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 Hopf. 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:
therapy – histopathology – Darier disease – differential diagnosis
Sources
1. 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.
2. ADAM, A. E. Ectopic Darier‘s disease of the cervix: an extraordinary cause of an abnormal smear. Cytopathology, 1996, 7(6), p. 414–421.
3. ADAMS, A. M., MACLEOD, R. I., MUNRO, C. S. Symptomatic and asymptomatic salivary duct abnormalities in Darier‘s disease: a sialographic study. Dentomaxillofac Radiol. 1994, 23(1), p. 25–28.
4. Al ROBAEE, A., HAMADAH, I. R., KHUROO, S. et al. Extensive Darier‘s disease with esophageal involvement. Int J Dermatol., 2004, 43(11), p. 835–839.
5. ALIAĞAOĞLU, C., ATASOY, M., ANADOLU, R. et al. Comedonal, cornifying and hypertrophic Darier‘s disease in the same patient: A Darier combination. J Dermatol., 2006, 33(7), p. 477–480.
6. ANDERSON, A. P. Darier’s disease (unilateral). Arch Dermatol Syph., 1948, 58, p. 581–583.
7. BABA, A., YONEKURA, K., TAKEDA, K. et al. Darier‘s disease with esophageal involvement. Acta Dermatovenerol Croat., 2015, 23(3), p. 218–219.
8. BANG, C. H., KIM, H. S., PARK, Y. M. et al. Non-familial acrokeratosis verruciformis of Hopf. Ann Dermatol., 2011, 23(Suppl 1), p. S61–63.
9. BARAN, R. An effective surgical treatment for nail thickening in Darier‘s disease. J Eur Acad Dermatol Venereol., 2005, 19(6), p. 689–691.
10. BEHERA, B., PRABHAKARAN, N., NAVEED, S. et al. Dermoscopy of acrokeratosis verruciformis of Hopf. J Am Acad Dermatol., 2017, 77(2), p. e33–e35.
11. 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.
12. BLACKMAN, H. J., RODRIGUES, M. M., PECK, G. L. Corneal epithelial lesions in keratosis follicularis (Darier‘s disease). Ophthalmology, 1980, 87(9), p. 931–943.
13. BLACKWELL, D., SHUSTER, S. Dermatoglyphics in Darier‘s disease. Br J Dermatol., 1997, 137(3), p. 401–404.
14. CARDOSO, C. L., FREITAS, P., TAVEIRA, L. A. et al. Darier disease: case report with oral manifestations. Med Oral Patol Oral Cir Bucal., 2006, 11(5), p. e 404–406.
15. CASTAGNA, J., CLERC, C., DUPOND, A. S. Exacerbation of Darier disease by peg-interferon beta-1a in a patient suffering from multiple sclerosis. Int J Dermatol., 2018, 57(1), p. 116–117.
16. CEDERLÖF, M., BERGEN, S. E., LÅNGSTRÖM, N. et al. The association between Darier disease, bipolar disorder, and schizophrenia revisited: a population-based family study. Bipolar Disord., 2015, 17(3), p. 340–344.
17. 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. pii: S0190-9622(19)30891-6.
18. CEDERLÖF, M., KARLSSON, R., LARSSON, H. et al. Intellectual disability and cognitive ability in Darier disease: Swedish nation-wide study. Br J Dermatol., 2015, 173(1), p. 155–158.
19. CHOUDRY, K., CHARLES-HOLMES, R., VELLA, E. J. et al. Scarring alopecia due to folliculitis decalvans in a patient with Darier‘s disease. Clin Exp Dermatol., 2001, 26(3), p. 307–308.
20. CHUNG, J., KIM, J. Y., GYE, J. et al. A case of familial comedonal Darier‘s disease. Ann Dermatol., 2011, 23(Suppl 3), S398–401.
21. DAICKER, B. Ocular involvement in keratosis follicularis associated with retinitis pigmentosa. Clinicopathological case report. Ophthalmologica, 1995, 209(1), p. 47–51.
22. DARIER, J. De la psorospermose folliculaire vegetante. Ann Derm Syph (Paris), 1889, 10, p. 597–605.
23. DARIER, J. Dyskératoses (Parakératoses à pseudo-coccidies, ou psorospermo-ses). Anatomie Pathologique Générale de la Peau. La Pratique Dermatologique, 1900, (1), p. 106–108.
24. DELLON, A. L., PECK, G. L., CHRETIEN, P. B. Hypopharyngeal and laryngeal involvement with Darier disease. Arch Dermatol., 1975, 111(6), p. 744–746.
25. DERRICK, E. K., DARLEY, C. R., BURGE, S. Comedonal Darier‘s disease. Br J Dermatol., 1995, 132(3), p. 453–455.
26. 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.
27. DODIUK-GAD, R., COHEN-BARAK, E., ZIV, M. et al. Health-related quality of life among Darier‘s disease patients. J Eur Acad Dermatol Venereol., 2013, 27(1), p. 51–56.
28. DODIUK-GAD, R., COHEN-BARAK, E., ZIV, M. et al. Bacteriological aspects of Darier‘s disease. J Eur Acad Dermatol Venereol., 2013, 27(11), p. 1405–1409.
29. DOLEŽEL, Z., PINKOVÁ, B., BUČKOVÁ, H. et al. Morbus Darier. Pediatr. Praxi, 2018, 19(2), p. 107–108.
30. DOWNS, A. M., WARD, K. A., PEACHEY, R. D. Subungual squamous cell carcinoma in Darier‘s disease. Clin Exp Dermatol., 1997, 22(6), p. 277–279.
31. el-GOTHAMY, Z., KAMEL, M. M. Ultrastructural observations in Darier‘s disease. Am J Dermatopathol., 1988, 10(4), p. 306–310.
32. ERRICHETTI, E., MAIONE, V., PEGOLO, E. et al. Dermoscopy: a useful auxiliary tool in the diagnosis of type 1 segmental Darier’s disease. Dermatol Pract Concept., 2016, 6(2), p. 53–55.
33. ERRICHETTI, E., STINCO, G., LACARRUBBA, F. et al. Dermoscopy of Darier‘s disease. J Eur Acad Dermatol Venereol., 2016, 30(8), p. 1392–1394.
34. FERRIS, T., LAMEY, P. J., RENNIE, J. S. Darier‘s disease: oral features and genetic aspects. Br Dent J., 1990, 168(2), p.71–73.
35. FITZGERALD, D. A., LEWIS-JONES, M. S. Darier‘s disease presenting as isolated hyperkeratosis of the breasts. Br J Dermatol., 1997, 136(2), p. 290.
36. GHARAEI NEJAD, K., EFTEKHARI, H., RAFIEI, R. et al. Inflammatory myopathies in a patient with Darier disease, a possible association. Caspian J Intern Med., 2018, 9(2), p. 201–203.
37. GOH, B. K., ANG, P., GOH, C. L. Darier‘s disease in Singapore. Br J Dermatol., 2005, 152(2), p. 284–288.
38. 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.
39. GOODALL, J. W., RICHMOND, Q. M. A case of Darier‘s disease. Br J Clin Pract., 1965, 19, p. 475–476.
40. GORDON-SMITH, K., JONES, L. A., BURGE, S. M. et al. The neuropsychiatric phenotype in Darier disease. Br J Dermatol., 2010, 163(3), p. 515–522.
41. GRAHAM-BROWN, R. A., MANN, B. S., DOWNTON, D. et al. Darier‘s disease with salivary gland obstruction. J R Soc Med., 1983, 76(7), p. 609–611.
42. GUPTA, I., DAYAL, S., KUMAR, S. Guttate leukoderma in Darier disease: A rare presentation. Indian Dermatol Online J., 2019, 10(3), p. 337–340.
43. GUPTA, L. K., GARG, A., KHARE, A. K. et al. A case of zosteriform Darier‘s disease with seasonal recurrence. Indian Dermatol Online J., 2013, 4(3), p. 219–221.
44. GUPTA, L. K., SINGHI, M. K. Tzanck smear: a useful diagnostic tool. Indian J Dermatol Venereol Leprol., 2005, 71(4), p. 295–299.
45. GUPTA, S., SHAW, J. C. Unilateral Darier‘s disease with unilateral guttate leukoderma. J Am Acad Dermatol., 2003, 48(6), p. 955–957.
46. GUPTA, V., BHATIA, R., RAMAM, M. et al. Hypopigmented macules and papules following the lines of Blaschko: a novel variant of Darier‘s disease. Int J Dermatol., 2016, 55(12), p. e623–e625.
47. HALTEH, P., JORIZZO, J. L., LIPNER, S. R. Darier disease: candy-cane nails and hyperkeratotic papules. Postgrad Med J., 2016, 92(1089), p. 425–426.
48. HAPPLE, R., ITIN, P. H., BRUN, A. M. Type 2 segmental Darier disease. Eur J Dermatol., 1999, 9(6), p. 449–451.
49. HARB, J. N., MOTAPARTHI, K. Clinicopathologic findings of guttate leukoderma in Darier disease: A helpful diagnostic feature. JAAD Case Rep., 2018, 4(3), p. 262–266.
50. HOPF, G. II. Über eine bisher nicht beschriebene disseminierte Keratose (akrokeratosis verruciformis). Dermatology, 1931, 60, p. 227–250.
51. HORTON, L., MEHREGAN, D. Unilateral segmental Darier‘s disease associated with neuropsychiatric disorders. Clin Case Rep., 2019, 7(7), p. 1362–1364.
52. ITIN, P., BÜCHNER, S. A., GLOOR, B. Darier‘s disease and retinitis pigmentosa; is there a pathogenetic relationship? Br J Dermatol., 1988, 119(3), p. 397–402.
53. KANAKPUR, S. H., CACULO, D. U. Rare ocular manifestations in keratosis follicularis (Darier-White disease). Indian J Ophthalmol., 2017, 65(9), p. 874–876.
54. KANSAL, N. K., HAZARIKA, N., RAO, S. Familial case of Darier disease with guttate leukoderma: A case series from India. Indian Dermatol Online J., 2018, 9(1), p. 62–63.
55. KARAGIANNIDIS, I., BRUNNER, M., ZOUBOULIS, C. C. Exacerbation of Darier disease under interferon-α-2a therapy with clinical signs of lichen nitidus. Case Rep Dermatol., 2016, 8(2), p. 218–223.
56. KATTA, R., REED, J., WOLF, J. E. Cornifying Darier‘s disease. Int J Dermatol., 2000, 39(11), p. 844–845.
57. KHALED, A., BEN HAMIDA, M., GOUCHA, S., et al. Bullous Darier‘s disease mimicking Hailey-Hailey disease. Dermatol Ther (Heidelb), 2011, 1(2), p. 31–35.
58. KIM, C., FANGMAN, W. Keratosis follicularis (Darier-White disease), with an unusual palmoplantar keratoderma. Dermatol Online J., 2007, 13(1), p. 7.
59. KOMORI, T., OTSUKA, A., KAKU, Y. et al. Acantholytic dyskeratotic acanthoma: a possible skin adverse event of vemurafenib treatment. J Eur Acad Dermatol Venereol., 2017, 31(10), p. e474–e475.
60. KOUZAK, S. S., MENDES, M. S., COSTA, I. M. Cutaneous mosaicisms: concepts, patterns and classifications. An Bras Dermatol., 2013, 88(4), p. 507–517.
61. KREIBICH, K. Zum Wesen der Psorospermosis Darier. Arch Dermatol Syphilol (Wien), 1906, 80, p. 367.
62. LAGALI, N., DELLBY, A., FAGERHOLM P. In vivo confocal microscopy of the cornea in Darier-White disease. Arch Ophthalmol., 2009, 127(6), p. 816–818.
63. LE, A., RICHERT, B., SASS, U. et al. Painful nails and white macules. Clin Exp Dermatol., 2017, 42(7), p. 817–819.
64. LEVY, S. L., SALVI, S. M. Reactivation of Darier‘s disease following azathioprine treatment for thyroid eye disease. Eye (Lond), 2013, 27(4), p. 568–569.
65. LINDER, D., MARINELLO, E., DONISI, P. M. et al. Inframammary dermatitis: A case of localized late-onset Darier‘s disease. Case Rep Dermatol., 2016, 8(2), p. 189–192.
66. MANOJA, K. G., SIRIWARDENA, B. S., JAYASOORIYA, P. R. et al. A rare clinical presentation of intraoral Darier‘s disease. Case Rep Pathol., 2011, 2011, p. 181728.
67. MATSUI, K., MAKINO, T., NAKANO, H. et al. Squamous cell carcinoma arising from Darier‘s disease. Clin Exp Dermatol., 2009, 34(8), e1015–1016.
68. MATSUMOTO, A., WANG, R., CARLSON, J. A. Columnar dyskeratosis-A clue to Wong-type dermatomyositis? J Cutan Pathol., 2017, 44(9), p. 813–814.
69. MEDANSKY, R. S., WOLOSHIN, A. A. Darier‘s disease: An evaluation of its neuropsychiatric component. Arch Dermatol., 1961, 84(3), p. 482–484.
70. MIELKE, J., GRÜB, M., BESCH, D. et al. Recurrent corneal ulcerations with perforation in keratosis follicularis (Darier-White disease). Br J Ophthalmol., 2002, 86(10), p. 1192–1193.
71. MIRACCO, C., PIETRONUDO, F., MOURMOURAS, V. et al. Possible implication of local immune response in Darier‘s disease: an immunohistochemical characterization of lesional inflammatory infiltrate. Mediators Inflamm., 2010, 2010, p. 350304.
72. MORROW, P. Keratosis follicularis. J Cutan Venereal Dis., 1886, 4, p. 257–264.
73. NGO, J., HABER, R. Exacerbation of Darier disease by lithium carbonate. J Cutan Med Surg., 2010,14(2), p. 80–84.
74. NGUYEN, Y., SATGUNASEELAN, L., LEE S. A case of acitretin-induced haemorrhagic lesions in Darier disease. Australas J Dermatol., 2018, 59(4), p. e301–e302.
75. NIKKELS, A. F., BEAUTHIER, F., QUATRESOOZ, P. et al. Fatal herpes simplex virus infection in Darier disease under corticotherapy. Eur J Dermatol., 2005, 15(4), p. 293–297.
76. POCK, L., ŠTORK, J. Two case reports of columnar dyskeratosis, an unusual keratinisation disorder. Dermatology, 2010, 220(3), p. 274–279.
77. RÁCZ, E., KORNSEÉ, Z., CSIKÓS, M. et al. Darier‘s disease associated with cutis verticis gyrata, hyperprolactinaemia and depressive disorder. Acta Derm Venereol., 2006, 86(1), p. 59–60.
78. REENSTIERNA, J. Dariersche Dermatose mit Schleimhautveränderungen und impetigo artigen Eruptionen. Arch. Dermat. u. Syph., 1917, 124, p. 841.
79. REESE, D. A., PAUL, A. Y., DAVIS, B. Unilateral segmental Darier disease following Blaschko lines: a case report and review of the literature. Cutis., 2005, 76(3), p. 197–200.
80. ROBERTSON, L., SAUDER, M. B. Basal cell carcinoma in type 2 segmental Darier‘s disease. J Skin Cance, 2012, 2012, p. 839561.
81. 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.
82. 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.
83. SALERNI, G., ALONSO, C., CALLIGARIS, M. et al. Dermoscopy of multiple warty dyskeratomas. Dermatol Pract Concept, 2017, 7(4), p. 47–49.
84. SEHGAL, V., RAUT, D., SARDANA, K. Darier‘s disease (keratosis follicularis): gynaecomastia unique hitherto unreported association. J Eur Acad Dermatol Venereol., 2005, 19(2), p. 267–269.
85. SHIMIZU, H., TAN KINOSHITA, M. T., SUZUKI, H. Darier‘s disease with esophageal carcinoma. Eur J Dermatol, 2000, 10(6), p. 470–472.
86. TANG, C., CHAN, M., LEE, J. et al. Darier‘s disease and schizophrenia. East Asian Arch Psychiatry, 2010, 20(4), p. 190–192.
87. TERROM, M., DHAILLE, F., BALTAZAR, S. T. Guttate leukoderma in Darier disease: case report and review. J Eur Acad Dermatol Venereol., 2016, 30(12), p. e.205–e209.
88. THAPPA, D. M., GARG, B. R. Darier‘s disease with circumscribed plantar keratoderma. J Dermatol., 1996, 23(2), p. 139–140.
89. TOMASZEWSKA, K. A., GERLICZ-KOWALCZUK, Z., KRĘGIEL, M. et al. The coexistence of Darier‘s disease and Hailey-Hailey disease symptoms. Postepy Dermatol Alergol., 2017, 34(2), p. 180–183.
90. TOMKOVÁ, H., VAŇKOVÁ, L., POCK, L. et al. Segmental Darier‘s disease postpartum and following tubal ligation. Acta Dermatovenerol Alp Pannonica Adriat., 2010, 19(4), p. 31–33.
91. TORRES, K. M., JUNKINS-HOPKINS, J. M. Cystic acantholytic dyskeratosis of the vulva: An unusual presentation of a follicular adnexal neoplasm. Indian Dermatol Online J., 2016, 7(4), p. 272–274.
92. UDAYASHANKAR, C., NATH, A. K., ANURADHA, P. Extensive Darier‘s disease with pityriasis amiantacea, alopecia and congenital facial nerve palsy. Dermatol Online J., 2013, 19(6), p. 18574.
93. VÁZQUEZ-LÓPEZ, F., LOPEZ-ESCOBAR, M., MALDONADO-SERAL, C. et al. The handheld dermoscope improves the recognition of giant pseudocomedones in Darier’s disease. J Am Acad Dermatol., 2004, 50(3), p. 454–455.
94. VOGT, K. A., LOHSE, C. M., EL-AZHARY, R. A. et al. Kaposi varicelliform eruption in patients with Darier disease: a 20-year retrospective study. J Am Acad Dermatol., 2015, 72(3), p. 481–484.
95. von EIFF, C., BECKER, K., METZE, D. et al. Intracellular persistence of Staphylococcus aureus small-colony variants within keratinocytes: a cause for antibiotic treatment failure in a patient with Darier‘s disease. Clin Infect Dis., 2001, 32(11), p. 1643–1647.
96. WHITE, J. C. A case of keratosis (ichthyosis) follicularis. J Cutan Genitourin Dis, 1889, 7, p. 201–209.
97. WRIGHT, J. C. Darier‘s disease. Am J Ophthalmol., 1963, 55, p. 134–136.
98. YOSHIKAWA, Y., TANAKA, T., TODA, K. et al. A unique case of palmoplantar keratoderma. J Dermatol., 2003, 30(10), p. 755–757.
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Czech-Slovak Dermatology
2020 Issue 2
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