Аннотация
Список литературы
Диагностика заболеваний кожи у новорожденных нередко является сложной междисциплинарной проблемой. В статье изложены сведения о распространенности, генетических аспектах и наиболее типичных клинических проявлениях синдрома Блоха-Сульцбергера.
Ключевые слова:
синдром Блоха-Сульцбергера, множественные пороки развития, дети, синдром недержания пигмента, наследственные заболевания кожи
Bloch–Sulzberger syndromе. Part I
Diagnosis of skin diseases in infants is often difficult interdisciplinary problem. This article provides information about the prevalence of genetical aspects and the most common clinical manifestations of the syndrome Bloch-Sulzberger.
Keywords
syndrome Bloch-Sulzberger, multiple malformations, children, pigment incontinence syndrome, inherited skin diseases
- 1. Белецкая, Л.В., Махнева Н.В. Меченые антитела в нормальной и патологической морфо-логии (атлас) // М: МНПИ, 2000. – С. 5-9.
- 2. Зверькова, Ф.А. Болезни кожи детей раннего возраста / С.-Пб.: Сотис, 1994. – 235 с.
- 3. Наследственные синдромы и медико-генетическое консультирование. Атлас-справочник / С. И. Козлова, Н. С. Демикова, Е. Семанова, О. Е. Блинникова // М., – 1996. – 416 с.
- 4. Нейрокожные синдромы: клиника, диагностика / В. А Балязин, М. И Кравченко, Н. А. Фо-мина-Чертоусова. // Элиста: Джангар. - 2001. - 92 с.
- 5. Analysis of 54 cases of hypopigmentation and hyperpigmentation along the lines of Blaschko / K. S. Nehal, R. PeBenito, S. J. Orlow // Arch. Dermatol. - 1996. - V. 132. - P. 1167-1170.
- 6. Clinical diagnosis of incontinentia pigmenti in a cohort of male patients / F. Fusco, G. Fimiani, G. Tadini [at al.] // J. Am. Acad. Dermatol. - 2007. - V. 56. - P. 264-267.
- 7. Clinical study of 40 cases of incontinentia pigmenti / S. Hadj-Rabia, D. Froidevaux, N. Bodak [at al.] // Arch. Dermatol. - 2003. - V. 139. - P. 1163-1167.
- 8. Expression of eotaxin, an eosinophilselective chemokine, parallels eosinophil accumulation in the vesiculobullous stage of incontinentia pigmenti / S. Jean-Baptiste, E.A. O’Toole, M. Chen, [at al.] // Clin. Exp. Immunol. -2002. - V. 127. - P. 470-478.
- 9. Genomic rearrangement in NEMO impairs NF-κB activation and is a cause of incontinentia pigmenti / A. Smahi, G. Courtois, P. Vabres // Nature. - 2000. - V. 405. - P. 466-472.
- 10. Immunohistochemical examination of P-cadherin in bullous and acantholytic skin diseases / A. Kovacs, E. Schmidt, A. Begany [at al.] // Acta Dermatol. Venereol. - 2004. - V. 84. - P. 116-119.
- 11. Incontinentia pigmenti: a review and update on the molecular basis of pathophysiology / A. Berlin, A. Paller, L. Chan // J. Am. Acad. Dermatol. - 2002. - V. 47. - P. 169-187.
- 12. Incontinentia pigmenti: an extensive second episode of a ‘first-stage’ vesicobullous eruption / R.L. Van Leeuwen, M. Wintzen, M.C. Van Praag // Pediatric. Dermatol. - 2000. - V. 17. - P. 70-72.
- 13. Incontinentia pigmenti: clinical and neuroimaging findings in a series of 12 patients / I. Pascual-Castroviejo, S.I. Pascual-Pascual, R. Velazquez-Fragua [at al.] // Neurologia. - 2006. - V. 21. - P. 239-248.
- 14. Incontinentia pigmenti: clinical observation of 40 Korean cases / B.J. Kim, H.S. Shin, C.H. Won [at al.] // J. Korean Med. Sci. - 2006. - V. 21. - P.474-477.
- 15. Incontinentia pigmenti case series: clinical spectrum of incontinenti apigmenti in 53 female patients and their relatives / T.A. Phan, O. Wargon, A.M. Turner // Clin. Exp. Dermatol. - 2005. - V. 30. -P. 474-480.
- 16. Incontinentia pigmenti. Do you know this syndrome? / I.B. Succi, F.C. Rosman, E.F. Oliveira // An. Bras. Dermatol. - 2011. - V. 86.3. - P. 608-610.
- 17. Incontinentia pigmenti in a boy with XXY mosaicism detected by fluorescence in situ hybridization / L.M. Franco, J. Goldstein, N.S. Prose [at al.] // J. Am. Acad. Dermatol. - 2006. - V. 5. - P. 136-138.
- 18. Incontinentia pigmenti in newborn with NEMO mutation / Y. Lee, S. Kim, K. Kim, M. Chang // J. Korean Med. Sci. - 2011. - V. 26. - P. 308-311.
- 19. Insights into the pathogenesis of cerebral lesions in incontinentia pigmenti / A. Hennel, P.G. Ekert, J.J. Volpe [at al.] // Pediatr. Neurol. - 2003. - V. 29. - P. 148-150.
- 20. Isolated recurrence of vesicobullous incontinentia pigmenti in a schoolgirl / S. Darne, A.J. Carmichael // Br. J. Dermatol. - 2007. - V. 15. - P. 600-602.
- 21. NF-kappa B-related genetic diseases / G. Courtois., A. Smahi // Cell Death Differ. - 2006. - V. 13. - P. 843-851.
- 22. Multiple pathogenic and benign genomic rearrangements occur at a 35 κb duplication involving the NEMO and LAGE2 genes / S. Aradhya, T. Bardaro, P. Galgoczy [at al.] // Hum. Mol. Genet. - 2001. - V. 10. - P. 2557-2567.
- 23. Paller A.S., Mancini A.J. Disoders of both hypopigmentation and hyperpigmentation / In: Hurwitz Clinical Pediatric Dermatology, 3rd ed. Eds. A.S. Paller, A.J. Mancini // Philadelphia: Elsevier Saunders. - 2006. - P. 280-283.
- 24. Postnatal lethality of P-caderin/desmoglein 3 double knockout mice: demonstration of a cooperative effect of theses cell adhesion molecules in tissue homeostasis of stratifird squamous epithelia / J.M. Lenox, P.J. Koch, M.G. Mahoney [at al.] // J. Invest. Dermatol. - 2000. - V. 114. - P. 948-952.
- 25. Utility of molecular studies in incontinentia pigmenti patients / S. Thakur, R.D. Puri, S. Kohli [at al.] // Indian. J. Med. Res. – 2011. - V. 133. - P. 442-445.
- 26. Vesicular rash in a newborn / A. Nogueira, C. Lisboa, C. Eloy C. [at al.] // Indian J. Dermatol. Venereol. Leprol. - 2009. - V. 75. - P. 330.