Epidermolytic ichthyosis in a newborn (clinical case)

Polyanina E.Z., Lebedeva O.V., Pimenova N.R., Igmambetova K.D., Kashiri A.I., Uteshova I.A.

1) Astrakhan State Medical University, Astrakhan, Russia; 2) Regional Perinatal Center, Alexandro-Mariinsky Regional Clinical Hospital, Astrakhan, Russia

Background: This article presents literature data on the orphan disease, epidermolytic ichthyosis (EI) (congenital bullous ichthyosiform erythroderma of Brocq), the need for differential diagnosis of this clinical form from other genodermatoses, treatment considerations, and prognosis.
Description of the clinical case: A clinical case of a child born with EI is presented. The difficulties of diagnosis, the characteristics of the disease course, and the follow-up observation of the child during the first year of life are described.
Conclusion: This clinical case is presented to expand practitioners’ understanding of the diagnostic and treatment options for newborns with rare genodermatoses. Expanding neonatologists’ knowledge of congenital EI will facilitate prompt diagnosis and timely initiation of comprehensive treatment. This will help avoid complications, alleviate the condition, and, to a certain extent, improve the quality of life of patients with this pathology in later life.

For citations: Polyanina E.Z., Lebedeva O.V., Pimenova N.R., Igmambetova K.D., Kashiri A.I., Uteshova I.A. Epidermolytic ichthyosis in a newborn (clinical case). Pharmateca. 2026;33(3):146-153. (In Russ.). DOI: https://dx.doi.org/10.18565/pharmateca.2026.3.146-153

Authors’ contribution: The authors contributed equally to all stages of the work and preparation of the article.
Conflicts of interest: The authors confirm that they have no conflicts of interest to declare.
Funding: The study was conducted without any sponsorship.
Patient Consent for Publication: Written, voluntary, informed consent for publication of the examination and treatment results was obtained from the patient’s parents.

Keywords

About the Authors

E.Z. Polyanina, Cand. Sci. (Med.), Associate Professor, Department of Hospital Pediatrics and Neonatology, Astrakhan State Medical University, Astrakhan, Russia; polyanina.ez@mail.ru, ORCID: https://orcid.org/0000-0001-6150-944X
O.V. Lebedeva, Dr. Sci. (Med.), Associate Professor, Professor, Department of Hospital Pediatrics and Neonatology, Astrakhan State Medical University, Astrakhan, Russia; lebedevadoc@gmail.com, ORCID: https://orcid.org/0009-0005-1551-8333
Nailya R. Pimenova, Cand. Sci. (Med.), Associate Professor, Department of Hospital Pediatrics and Neonatology, Astrakhan State Medical University, Astrakhan, Russia; pimenova.nellya@yandex.ru, ORCID: https://orcid.org/0000-0002-0071-9803 (corresponding author)
K.D. Igmambetova, Neonatologist, Department of Pathology of Newborns and Premature Infants (2nd stage of developmental care), Regional Perinatal Center, Alexandro-Mariinsky Regional Clinical Hospital, Astrakhan, Russia; kamila21asmu@gmail.com, ORCID: https://orcid.org/0009-0005-8538-1053
A.I. Kashiri, Neonatologist, Department of Pathology of Newborns and Premature Infants (2nd stage of developmental care), Regional Perinatal Center, Alexandro-Mariinsky Regional Clinical Hospital, Astrakhan, Russia; akashiri1@yandex.ru, ORCID: https://orcid.org/0009-0003-9393-4389
I.A. Uteshova, Head of the Department of Pathology of Newborns and Premature Infants (2nd stage of developmental care), Regional Perinatal Center, Aleksandro-Mariinsky Regional Clinical Hospital, Astrakhan, Russia; els77@mail.ru, ORCID: https://orcid.org/0009-0000-6520-8986

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