Hereditary keratoderma. Clinical case: Unna–Toast keratoderma and Buschke–Fischer–Brauer keratoderma
Olga V. Grabovskaya , Nataliya P. Teplyuk , Yuliya V. Kolesova , Dmitriy V. Ignatyev
Russian Journal of Skin and Venereal Diseases ›› 2022, Vol. 25 ›› Issue (4) : 303 -312.
Hereditary keratoderma. Clinical case: Unna–Toast keratoderma and Buschke–Fischer–Brauer keratoderma
Palmoplantar keratoderma is a heterogeneous group of diseases, both hereditary and acquired, affecting, as a rule, the skin of the palms and soles in the form of focal or diffuse hyperkeratotic layers. Hereditary forms are characterized by a defect in the genes encoding certain structural components of keratinocytes, which leads to the corresponding clinical manifestations. The actual method of genomic sequencing has made it possible to identify the localization of defects in certain genes for specific types of hereditary palmoplantar keratoderma, however, despite the big step in diagnosis, therapy still remains complex and can only reduce the manifestations of the disease and improve the quality of life, and not cure it completely.
The authors demonstrate a clinical case of Unna–Toast keratoderma in a young patient with a long history of treatment of the disease, who showed a pronounced positive dynamics from the skin process against the background of the use of local agents, as well as the use of such a physiotherapeutic method as local PUVA therapy. In addition, the article provides a clinical case of hereditary keratoderma Buschke–Fischer–Brauer as an example of an accidentally diagnosed disease at a dermatologist’s appointment.
palmoplantar keratoderma / hereditary keratoderma
| [1] |
Isaeva DR, Khaldin AA. On the issue of differential diagnosis of hyperkeratotic dermatoses of palmar-plantar localization. Clin Dermatol Venereol. 2016;15(6):120–126. (In Russ). doi: 10.17116/klinderma2016156120-126 |
| [2] |
Исаева Д.Р., Халдин А.А. К вопросу о дифференциальной диагностике гиперкератотических дерматозов ладонно-подошвенной локализации // Клиническая дерматология и венерология. 2016. Т. 15, № 6. С. 120–126. doi: 10.17116/klinderma2016156120-126 |
| [3] |
Kruglova LS, Zhukova OV, Fineshina EI. Pathogenetic aspects underlying palmar-plantar keratodermia. Modern methods of therapy. Clin Dermatol Venereol. 2015;14(2):17–23. (In Russ). doi: 10.17116/klinderma201514217-22 |
| [4] |
Круглова Л.С., Жукова О.В., Финешина Е.И. Патогенетические аспекты, лежащие в основе ладонно-подошвенных кератодермий. Современные методы терапии // Клиническая дерматология и венерология. 2015. Т. 14, № 2. С. 17–23. doi: 10.17116/klinderma201514217-22 |
| [5] |
Dev T, Mahajan VK, Sethuraman G. Hereditary palmoplantar keratoderma: a practical approach to the diagnosis. Indian Dermatol Online J. 2019;10(4):365–379. doi: 10.4103/idoj.IDOJ_367_18 |
| [6] |
Dev T., Mahajan V.K., Sethuraman G. Hereditary palmoplantar keratoderma: a practical approach to the diagnosis // Indian Dermatol Online J. 2019. Vol. 10, N 4. P. 365–379. doi: 10.4103/idoj.IDOJ_367_18 |
| [7] |
Thomas BR, O’Toole EA. Diagnosis and management of inherited palmoplantar keratodermas. Acta Derm Venereol. 2020;100(7):adv00094. doi: 10.2340/00015555-3430 |
| [8] |
Thomas B.R., O’Toole E.A. Diagnosis and management of inherited palmoplantar keratodermas // Acta Derm Venereol. 2020. Vol. 100, N 7. P. adv00094. doi: 10.2340/00015555-3430 |
| [9] |
Harjama L, Karvonen V, Kettunen K, et al. Hereditary palmoplantar keratoderma ― phenotypes and mutations in 64 patients. J Eur Acad Dermatol Venereol. 2021;35(9):1874–1880. doi: 10.1111/jdv.17314 |
| [10] |
Harjama L., Karvonen V., Kettunen K., et al. Hereditary palmoplantar keratoderma ― phenotypes and mutations in 64 patients // J Eur Acad Dermatol Venereol. 2021. Vol. 35, N 9. P. 1874–1880. doi: 10.1111/jdv.17314 |
| [11] |
Juratli HA, Jägle S, Happle R, et al. A family with palmar and plantar hyperkeratosis: a quiz. Acta Derm Venereol. 2020;100(4):adv00064. doi: 10.2340/00015555-3419 |
| [12] |
Juratli H.A., Jägle S., Happle R., et al. A family with palmar and plantar hyperkeratosis: a quiz // Acta Derm Venereol. 2020. Vol. 100, N 4. P. adv00064. doi: 10.2340/00015555-3419 |
| [13] |
Efanova EN, Rusak YE, Ulitina IV, Gatiyatullin RT. The case of Buschke–Fischer keratodermia associated with rheumatoid arthritis. Clin Dermatol Venereol. 2016;15(1):15–17. (In Russ). doi 10.17116/klinderma201615115-17 |
| [14] |
Ефанова Е.Н., Русак Ю.Э., Улитина И.В., Гатиятуллин Р.Т. Случай кератодермии Бушке–Фишера, ассоциированной с ревматоидным артритом // Клиническая дерматология и венерология. 2016. Т. 15, № 1. С. 15–17. doi 10.17116/klinderma201615115-17 |
| [15] |
Sakiyama T, Kubo A. Hereditary palmoplantar keratoderma «clinical and genetic differential diagnosis». J Dermatol. 2016;43(3):264–274. doi: 10.1111/1346-8138.13219 |
| [16] |
Sakiyama T., Kubo A. Hereditary palmoplantar keratoderma “clinical and genetic differential diagnosis” // J Dermatol. 2016. Vol. 43, N 3. P. 264–274. doi: 10.1111/1346-8138.13219 |
| [17] |
Yilmaz P, Medvecz M, Kohlhase J, et al. Alitretinoin in punctate palmoplantar keratoderma. Br J Dermatol. 2019;180(4):931–932. doi: 10.1111/bjd.17336 |
| [18] |
Yilmaz P., Medvecz M., Kohlhase J., et al. Alitretinoin in punctate palmoplantar keratoderma // Br J Dermatol. 2019. Vol. 180, N 4. P. 931–932. doi: 10.1111/bjd.17336 |
| [19] |
Hickman G, Bodemer C, Bourrat E, et al. Palmoplantar keratoderma: creating a disease burden questionnaire. J Eur Acad Dermatol Venereol. 2019;33(8):e291–e293. doi: 10.1111/jdv.15563 |
| [20] |
Hickman G., Bodemer C., Bourrat E., et al. Palmoplantar keratoderma: creating a disease burden questionnaire // J Eur Acad Dermatol Venereol. 2019. Vol. 33, N 8. P. e291–e293. doi: 10.1111/jdv.15563 |
| [21] |
11.Olisova OY, Teplyuk NP, Grabovskaya OV, et al. Keratodermia as paraneoplastic syndrome. Russ Med J. 2016;(10):654–656. (In Russ). |
| [22] |
Олисова О.Ю., Теплюк Н.П., Грабовская О.В., и др. Кератодермии как паранеопластический синдром // Русский медицинский журнал. 2016. № 10. С. 654–656. |
| [23] |
Guerra L, Castori M, Didona B, et al. Hereditary palmoplantar keratodermas. Part I. Non-syndromic palmoplantar keratodermas: classification, clinical and genetic features. J Eur Acad Dermatol Venereol. 2018;32(5):704–719. doi: 10.1111/jdv.14902 |
| [24] |
Guerra L., Castori M., Didona B., et al. Hereditary palmoplantar keratodermas. Part I. Non-syndromic palmoplantar keratodermas: classification, clinical and genetic features // J Eur Acad Dermatol Venereol. 2018. Vol. 32, N 5. P. 704–719. doi: 10.1111/jdv.14902 |
| [25] |
Bodemer C, Steijlen P, Mazereeuw-Hautier J, O’Toole EA. Treatment of hereditary palmoplantar keratoderma: a review by analysis of the literature. Br J Dermatol. 2021;184(3):393–400. doi: 10.1111/bjd.19144 |
| [26] |
Bodemer C., Steijlen P., Mazereeuw-Hautier J., O'Toole E.A. Treatment of hereditary palmoplantar keratoderma: a review by analysis of the literature // Br J Dermatol. 2021. Vol. 184, N 3. P. 393–400. doi: 10.1111/bjd.19144 |
| [27] |
Schiller S, Seebode C, Hennies HC, et al. Palmoplantar keratoderma (PPK): acquired and genetic causes of a not so rare disease. J Dtsch Dermatol Ges. 2014;12(9):781–788. doi: 10.1111/ddg.12418 |
| [28] |
Schiller S., Seebode C., Hennies H.C., et al. Palmoplantar keratoderma (PPK): acquired and genetic causes of a not so rare disease // J Dtsch Dermatol Ges. 2014. Vol. 12, N 9. P. 781–788. doi: 10.1111/ddg.12418 |
| [29] |
Zhang LW, Wang WJ, T Chen T, et al. Palmoplantar keratoderma and perioral keratotic plaques with hypotrichosis in a child. Pediatr Dermatol. 2019;36(6):942–943. doi: 10.1111/pde.13928 |
| [30] |
Zhang L.W., Wang W.J., Chen T., et al. Palmoplantar keratoderma and perioral keratotic plaques with hypotrichosis in a child // Pediatr Dermatol. 2019. Vol. 36, N 6. P. 942–943. doi: 10.1111/pde.13928 |
| [31] |
Pashinyan AG, Ilyenko LI, Hakobyan AN. Clinical case of palmar-plantar keratodermia of Unna-Toast. Russ J Skin Venereal Diseases. 2017;20(3):143–145. (In Russ). doi: 10.18821/1560-9588-2017-20-3-143-145 |
| [32] |
Пашинян А.Г., Ильенко Л.И., Акопян А.Н. Клинический случай ладонно-подошвенной кератодермии Унны–Тоста // Российский журнал кожных и венерических болезней. 2017. Т. 20, № 3. С. 143–145. doi: 10.18821/1560-9588-2017-20-3-143-145 |
| [33] |
Song H, Dzuali F, Chi SN, et al. Improvement of hereditary palmoplantar keratoderma with oral trametinib. Pediatr Dermatol. 2019;36(1):e48–e49. doi: 10.1111/pde.13731 |
| [34] |
Song H., Dzuali F., Chi S.N., et al. Improvement of hereditary palmoplantar keratoderma with oral trametinib // Pediatr Dermatol. 2019. Vol. 36, N 1. P. e48–e49. doi: 10.1111/pde.13731 |
| [35] |
Hinterberger L, Pföhler C, Vogt T, Müller CS. Diffuse epidermolytic palmoplantar keratoderma (Unna–Thost). MJ Case Rep. 2012;2012: bcr2012006443. doi: 10.1136/bcr-2012-006443 |
| [36] |
Hinterberger L., Pföhler C., Vogt T., Müller C.S. Diffuse epidermolytic palmoplantar keratoderma (Unna–Thost) // MJ Case Rep. 2012. Vol. 2012. P. bcr2012006443. doi: 10.1136/bcr-2012-006443 |
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