Альманах клинической медицины. 2016; 44: 39-44
СЛУЧАИ КЛИНИЧЕСКИХ ПРОЯВЛЕНИЙ СЕГМЕНТАРНЫХ ФОРМ БОЛЕЗНИ ХЕЙЛИ – ХЕЙЛИ
https://doi.org/10.18786/2072-0505-2016-44-1-39-44Аннотация
Болезнь Хейли – Хейли (семейная доброкачественная хроническая пузырчатка Гужеро – Хейли – Хейли) – редкое кожное заболевание с аутосомно-доминантным типом наследования, характеризующееся преимущественным симметричным поражением кожи в области естественных складок. Однако встречается кар-тина сегментарного расположения очагов поражения, отражающая эпигенетический или геномный мозаицизм. Известно, что его причина – в возникновении на ранней стадии эмбриогенеза постзиготной мутации de novo как в соматических, так и зародышевых клетках. В зависимости от состояния аллельной пары гена различают 2 типа сегментарных форм аутосомно-доминантных заболеваний. В статье рассматриваются 2 клинических случая с манифестацией сегментарных форм болезни Хейли – Хейли 1-го и 2-го типов, на примере которых показано не только разнообразие клинических проявлений, но и особенности течения, прогноза передачи последующим поколениям данного генодерматоза.
Список литературы
1. Ikeda S, Shigihara T, Mayuzumi N, Yu X, Ogawa H. Mutations of ATP2C1 in Japanese patients with Hailey-Hailey disease: intrafamilial and interfamilial phenotype variations and lack of correlation with mutation patterns. J Invest Dermatol. 2001;117(6):1654–6.
2. Hu Z, Bonifas JM, Beech J, Bench G, Shigihara T, Ogawa H, Ikeda S, Mauro T, Epstein EH Jr. Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease. Nat Genet. 2000;24(1):61–5. doi: 10.1038/71701.
3. Burge SM. Hailey-Hailey disease: the clinical features, response to treatment and prognosis. Br J Dermatol. 1992;126(3):275–82. doi: 10.1111/j.1365-2133.1992.tb00658.x.
4. Gu H, Chang B, Chen W, Shao C. Clinical analysis of 69 patients with familial benign chronic pemphigus. Chin Med J (Engl). 1999;112(8):761–3.
5. Happle R. A rule concerning the segmental manifestation of autosomal dominant skin disorders. Review of clinical examples providing evidence for dichotomous types of severity. Arch Dermatol. 1997;133(12):1505–9. doi: 10.1001/archderm.1997.03890480025004.
6. Hwang LY, Lee JB, Richard G, Uitto JJ, Hsu S. Type 1 segmental manifestation of Hailey-Hailey disease. J Am Acad Dermatol. 2003;49(4):712–4. doi: 10.1067/S0190-9622(03)00847-8.
7. Nanda A, Khawaja F, Al-Sabah H, Happle R. Type 2 segmental Hailey-Hailey disease with systematized bilateral arrangement. Int J Dermatol. 2014;53(4):476–8. doi: 10.1111/j.1365-4632.2012.05586.x.
8. Happle R. Mosaicism in human skin. Understanding the patterns and mechanisms. Arch Dermatol. 1993;129(11):1460–70. doi: 10.1001/ archderm.1993.01680320094012.
9. Biesecker LG, Spinner NB. A genomic view of mosaicism and human disease. Nat Rev Genet. 2013;14(5):307–20. doi: 10.1038/nrg3424.
10. Poblete-Gutiérrez P, Wiederholt T, König A, Jugert FK, Marquardt Y, Rübben A, Merk HF, Happle R, Frank J. Allelic loss underlies type 2 segmental Hailey-Hailey disease, providing molecular confirmation of a novel genetic concept. J Clin Invest. 2004;114(10):1467–74. doi: 10.1172/JCI21791.
11. Molho-Pessach V, Schaffer JV. Blaschko lines and other patterns of cutaneous mosaicism. Clin Dermatol. 2011;29(2):205–25. doi: 10.1016/j.clindermatol.2010.09.012.
12. Happle R. Segmental forms of autosomal dominant skin disorders: different types of severity reflect different states of zygosity. Am J Med Genet. 1996;66(2):241–2. doi: 10.1002/ (SICI)1096-8628(19961211)66:23.0.CO;2-S.
13. Siegel DH, Sybert VP. Mosaicism in genetic skin disorders. Pediatr Dermatol. 2006;23(1):87–92. doi: 10.1111/j.1525-1470.2006.00180.x.
Almanac of Clinical Medicine. 2016; 44: 39-44
SEGMENTAL FORMS OF HAILEY-HAILEY DISEASE AND THEIR MANIFESTATIONS: CLINICAL CASES
https://doi.org/10.18786/2072-0505-2016-44-1-39-44Abstract
Hailey-Hailey disease (familial benign chronic pemphigus by Gougerot-Hailey-Hailey) is a rare autosomal dominant skin disorder characterized by mostly symmetric skin lesions in the skin fold areas. However, segmental distribution of skin lesions in cases of epigenetic or genomic mosaicism can also occur. It is known that it is caused by a de novo post-zygotic mutation that appears at an early stage of embryogenesis both in somatic and in germinative cells. Depending on allele status, there are two types of segmental forms of autosomal dominant disorders. The article presents two clinical cases with manifestation of segmental form of Hailey-Hailey disease type 1 and type 2. These examples demonstrate not only the variety of clinical signs of the disease, but also specific features of this gene dermatosis and the prognosis of its inheritance in subsequent generations.
References
1. Ikeda S, Shigihara T, Mayuzumi N, Yu X, Ogawa H. Mutations of ATP2C1 in Japanese patients with Hailey-Hailey disease: intrafamilial and interfamilial phenotype variations and lack of correlation with mutation patterns. J Invest Dermatol. 2001;117(6):1654–6.
2. Hu Z, Bonifas JM, Beech J, Bench G, Shigihara T, Ogawa H, Ikeda S, Mauro T, Epstein EH Jr. Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease. Nat Genet. 2000;24(1):61–5. doi: 10.1038/71701.
3. Burge SM. Hailey-Hailey disease: the clinical features, response to treatment and prognosis. Br J Dermatol. 1992;126(3):275–82. doi: 10.1111/j.1365-2133.1992.tb00658.x.
4. Gu H, Chang B, Chen W, Shao C. Clinical analysis of 69 patients with familial benign chronic pemphigus. Chin Med J (Engl). 1999;112(8):761–3.
5. Happle R. A rule concerning the segmental manifestation of autosomal dominant skin disorders. Review of clinical examples providing evidence for dichotomous types of severity. Arch Dermatol. 1997;133(12):1505–9. doi: 10.1001/archderm.1997.03890480025004.
6. Hwang LY, Lee JB, Richard G, Uitto JJ, Hsu S. Type 1 segmental manifestation of Hailey-Hailey disease. J Am Acad Dermatol. 2003;49(4):712–4. doi: 10.1067/S0190-9622(03)00847-8.
7. Nanda A, Khawaja F, Al-Sabah H, Happle R. Type 2 segmental Hailey-Hailey disease with systematized bilateral arrangement. Int J Dermatol. 2014;53(4):476–8. doi: 10.1111/j.1365-4632.2012.05586.x.
8. Happle R. Mosaicism in human skin. Understanding the patterns and mechanisms. Arch Dermatol. 1993;129(11):1460–70. doi: 10.1001/ archderm.1993.01680320094012.
9. Biesecker LG, Spinner NB. A genomic view of mosaicism and human disease. Nat Rev Genet. 2013;14(5):307–20. doi: 10.1038/nrg3424.
10. Poblete-Gutiérrez P, Wiederholt T, König A, Jugert FK, Marquardt Y, Rübben A, Merk HF, Happle R, Frank J. Allelic loss underlies type 2 segmental Hailey-Hailey disease, providing molecular confirmation of a novel genetic concept. J Clin Invest. 2004;114(10):1467–74. doi: 10.1172/JCI21791.
11. Molho-Pessach V, Schaffer JV. Blaschko lines and other patterns of cutaneous mosaicism. Clin Dermatol. 2011;29(2):205–25. doi: 10.1016/j.clindermatol.2010.09.012.
12. Happle R. Segmental forms of autosomal dominant skin disorders: different types of severity reflect different states of zygosity. Am J Med Genet. 1996;66(2):241–2. doi: 10.1002/ (SICI)1096-8628(19961211)66:23.0.CO;2-S.
13. Siegel DH, Sybert VP. Mosaicism in genetic skin disorders. Pediatr Dermatol. 2006;23(1):87–92. doi: 10.1111/j.1525-1470.2006.00180.x.
