Аутосомно-рецессивный врожденный ихтиоз. Клинический случай: ихтиоз по типу «купального костюма». От фенотипа к генотипу: КЛИНИЧЕСКИЙ СЛУЧАЙ

Лариса Михайловна  Леина; Ирина Романовна  Милявская; Игорь Александрович  Горланов; Денис Владимирович  Заславский

doi:10.56871/PED.2026.20.46.011

Autosomal recessive congenital ichthiosis. Clinical case: bathing-suit-type ichthiosis. From phenotype to genotype

CLINICAL CASE

Larisa M. Leina Saint Petersburg State Pediatric Medical University https://orcid.org/0000-0002-4652-6732
Irina R. Milyavskaya Saint Petersburg State Pediatric Medical University https://orcid.org/0009-0002-6384-3171
Igor A. Gorlanov Saint Petersburg State Pediatric Medical University https://orcid.org/0000-0001-9985-6965
Denis V. Zaslavsky Saint Petersburg State Pediatric Medical University https://orcid.org/0000-0001-5936-6232

Keywords:

autosomal recessive congenital ichthyosis “bathing suit” ichthyosis transglutaminasa 1 аутосомно-рецессивный врожденный ихтиоз ихтиоз по типу «купального костюма» трансглютаминаза 1

Abstract

Ichthyoses are genetic diseases characterized by generalized dry skin, scaling, and hyperkeratosis, often accompanied by erythroderma. According to the 2009 Consensus Conference on Ichthyosis, syndromic and nonsyndromic forms of the disease are distinguished. Autosomal recessive congenital ichthyosis belongs to a nonsyndromic form of ichthyosis. Clinically, autosomal recessive congenital ichthyosis is divided into three main phenotypes. The primary phenotypes are harlequin ichthyosis, lamellar ichthyosis, and congenital ichthyosis form erythroderma. Less common forms include self-limiting colloid ichthyosis, acroacral self-limiting colloid ichthyosis, and “bathing suit” ichthyosis. One of the mildest forms of autosomal recessive congenital ichthyosis is “bathing suit” ichthyosis, characterized by peeling skin localized primarily on the trunk, excluding the extremities and face. The disease is caused by temperature-sensitive variants of transglutaminase 1, encoded by theTGM1gene. We report our clinical observation of a 3-month-old child with autosomal recessive congenital ichthyosis of the “bathing suit” type. Our patient was born prematurely with a universal skin lesion resembling a “colloidal”membrane, which peeled off within 10 days. From the maternity hospital he was transferred to the Children's City Hospital No. 1. The child did not receive systemic therapy; topical treatment with dexpanthenol ointment was applied. Genetic testing revealed a previously undescribed pathogenic mutation in exon 3 of theTGM1gene. The patient's older sister also suffers from congenital ichthyosis with a characteristic localization. At the age of 3 months, the child came to the Clinical and Diagnostic Center of the Saint Petersburg State Pediatric Medical University. During his examination, a peculiar picture of skin lesions was noticed. A continued search for new autosomal recessive congenital ichthyosis aetiologies will no doubt increase our understanding of both the pathogenesis of ichthyosis and might be rewarding in terms of finding new therapeutic approaches to disease.

Author Biographies

Larisa M. Leina, Saint Petersburg State Pediatric Medical University

MD, Ph D, Associate Professor of the Department of Dermatovenerology, Saint Petersburg State Pediatric Medical University; address: 2 Litovskaya str., Saint Petersburg, 194100, Russia

Irina R. Milyavskaya, Saint Petersburg State Pediatric Medical University

MD, Ph D, Associate Professor of the Department of Dermatovenerology, Saint Petersburg State Pediatric Medical University, Saint Petersburg, Russia

Igor A. Gorlanov, Saint Petersburg State Pediatric Medical University

MD, Ph D, Dr. Sci. (Med.), Professor of the Department of Dermatovenerology, Saint Petersburg State Pediatric Medical University, Saint Petersburg, Russia

Denis V. Zaslavsky, Saint Petersburg State Pediatric Medical University

MD, Ph D, Dr Med Sci, Professor, Head of the Department of Dermatovenerology, Saint Petersburg State Pediatric Medical University, Saint Petersburg, Russia

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