Clinical observation of an infant with epidermolytic ichthyosis and congenital lung


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Abstract

Epidermolytic ichthyosis is a rare congenital keratinopathic ichthyosis characterized by a blistering phenotype at birth, which progressively becomes hyperkeratotic. The disease has an estimated prevalence of 1:200,000- 300,000 newborns. It is caused by mutations in the genes encoding epidermal suprabasal keratins 1 (KRT1; 12q13.13) and 10 (KRT10; 17q21-q23), which damage intermediate keratin filaments in the suprabasal keratinocytes. Bullous (epidermolytic) ichthyoses are manifested by symptoms, such as erythroderma at birth, skin erosions and blisters, hyperkeratosis, and increased susceptibility to infections. Case report. The paper describes a clinical case of epidermolytic ichthyosis and congenital lung malformation in an infant. It presents the clinical manifestations of epidermolytic ichthyosis, its current diagnostic methods, and specific features of therapy. Conclusion. The described clinical case is unique due to the concurrence of two congenital diseases in one infant, affecting different body systems, and these associations require further investigation.

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About the authors

Irina I. Ryumina

Academician V.I. Kulakov National Medical Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

Email: i_ryumina@oparina4.ru,i.ryumina@mail.ru
MD, Head of the Department of pathology of newborns and premature babies

Natalia M. Marycheva

Academician V.I. Kulakov National Medical Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

Candidate of Medical Sciences, Dermatologist of Therapeutic Department

Borislav A. Dinov

Academician V.I. Kulakov National Medical Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia; Academician Yu.E. Veltishchev Research Clinical Institute of Pediatrics, N.I. Pirogov Russian National Research Medical University

Candidate of Medical Sciences, pediatric cardiologist

Elena I. Dorofeeva

Academician V.I. Kulakov National Medical Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

Candidate of Medical Sciences, pediatric surgeon of the highest category, Head of clinical work of the Department of surgery, resuscitation and intensive care of newborns

Anna E. Perepyolkina

Nation

Candidate of Medical Sciences, junior researcher, Department of pathology of newborns and premature babies

Irina V. Orlovskaya

Academician V.I. Kulakov National Medical Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

Candidate of Medical Sciences, senior researcher, Head of clinical work, Department of pathology of newborns and premature babies

Marina V. Narogan

Academician V.I. Kulakov National Medical Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia; I.M. Sechenov First Moscow State Medical University (Sechenov University), Ministry of Health of Russia

Email: m_narogan@oparina4.ru
MD, leading researcher of the Department of pathology of newborns and premature babies

Karina A. Koronets

Academician V.I. Kulakov National Medical Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

neonatologist at the Department of pathology of newborns and premature babies

Artem A. Burov

Academician V.I. Kulakov National Medical Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

Candidate of Medical Sciences, Head of clinical work, anesthesiologist-resuscitator of the Department of surgery, reanimation and intensive care of newborns

Dmitry Yu. Trofimov

Academician V.I. Kulakov National Medical Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

Doctor of Biological Sciences, Professor of the Russian Academy of Sciences, Director of the Institute of Reproductive Genetics

Grigory S. Vasilyev

Academician V.I. Kulakov National Medical Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

doctor-geneticist of the Department of clinical genetics

Vladimir G. Bychenko

Academician V.I. Kulakov National Medical Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

Candidate of Medical Sciences, Head of the Department of radiation diagnostics

Alina V. Kozlova

Academician V.I. Kulakov National Medical Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

radiologist of the Department of radiation diagnostics

Elena A. Filippova

Academician V.I. Kulakov National Medical Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia

Email: e_fllippova@oparina4.ru
Head of the Department of ultrasound diagnostics in neonatology and pediatrics

Viktor V. Zubkov

Academician V.I. Kulakov National Medical Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia; I.M. Sechenov First Moscow State Medical University (Sechenov University), Ministry of Health of Russia

Email: v_zubkov@oparina4.ru
PhD, Doctor of Science, Director of the Institute of neonatology and pediatrics

Dmitriy N. Degtyarev

Academician V.I. Kulakov National Medical Research Center of Obstetrics, Gynecology, and Perinatology, Ministry of Health of Russia; I.M. Sechenov First Moscow State Medical University (Sechenov University), Ministry of Health of Russia

Email: d_degtiarev@oparina4.ru
MD, Professor, Deputy Director; Head of the Department of neonatology

References

  1. Oji V., Tadini G., Akiyama М., Blanchet Bardon С., Bodemer С., Bourrat E. et al. Revised nomenclature and classification of inherited ichthyoses: results of the first ichthyosis consensus conference in soreze 2009. J. Am. Acad. Dermatol. 2010; 63(4): 607-41. https://dx.doi.Org/10.1016/j.jaad.2009.ll.020.
  2. Адаскевич В.П. Клинические формы и методы лечения ихтиозиформных дерматозов. Медицинские новости. 2005; 5: 4-9.
  3. Muller F.B., Huber M., Kinaciyan T., Hausser I., Schaffrath C., Krieg T. et al. A human keratin 10 knockout causes recessive epidermolytic hyperkeratosis. Hum. Mol. Genet. 2006; 15(7): 1133-41. https://dx.doi.org/10.1093/hmg/ddl028.
  4. Клинические рекомендации: ихтиоз у детей. М.: Союз педиатров России; 2016: 14-5. [Clinical guidelines: Ichthyosis in children. Union of Pediatricians of Russia. 2016: 14-5. (in Russian)].
  5. Eskin-Schwartz M. Epidermolytic ichthyosis sine epidermolysis. Am. J. Dermatopathol. 2017; 39(6): 440-4.
  6. Бакулев А.Л., Каракаева А.В., Куляев К.А., Епифанова А.Ю., Каткова И.О., Слесаренко Н.А., Давтян В.А., Колпакова Н.Н. Клинический случай синдрома Нетертона. Саратовский научно-медицинский журнал. 2013; 9(3): 605-7. [Bakulev A.L., Karakaeva A.V., Kulyaev K.A., Epifanova A.Yu., Katkova I.O., Slesarenko N.A., Davtyan V.A., Kolpakova N.N. Clinical case of Netherton's syndrome. Saratov Journal of Medical Scientific Research. 2013; 9(3): 605-7. (in Russian)].
  7. Корнеева Л.С., Мельниченко Н.Е. Учебное пособие «Генодерматозы». Благовещенск; 2014. [Korneeva L.S., Melnichenko N.E. Textbook "Genodermatosis"; 2014. (in Russian)].
  8. Rout P.D., Nair A., Gupta A., Kumar P. Epidermolytic hyperkeratosis: clinical update. Clin. Cosmet. Investig. Dermatol. 2019; 12: 333-44. https://dx.doi. org/10.2147/CCID.S166849.
  9. Oji V, Preil M.L., Kleinow B., Wehr G., Fischer J., Hennies H.C. et al. S1 guidelines for the diagnosis and treatment of ichthyoses - update. J. Dtsch. Dermatol. Ges. 2017; 15(10): https://dx.doi.org/1053-65. 10.1111/ddg.13340.

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