Strategies for Differential Diagnosis and Management of Ichthyosis in Newborns

Congenital ichthyosis represents agroup of heterogeneous inherited skin diseases characterized by generalized keratinization disorder in the form of hyperkeratosis, caused by abnormalities in epidermal differentiation. The neonatal period is crucial for patients with ichthyosis due to the risk of developing complications, comorbidities, and fatal outcomes. Most complications arise from impaired skin barrier function. This article discusses the manifestations of ichthyosis in newborns, describes risks and complications, and suggests strategies for monitoring and treating patients. Purpose of the study: to present contemporary data on differential diagnosis and treatment strategies for newborn patients with congenital ichthyosis. Materials and Methods: review of Russian and international sources dedicated to the etiology, diagnosis, and treatment of ichthyosis was conducted. Results: Differential diagnosis of ichthyosis in the neonatal period is acrucial task, hence the most life-threatening subtypes are considered. The most severe progression with ahigh risk of fatal outcomes is characteristic of Harlequin ichthyosis. Collodion baby presents with less pronounced symptoms, is not afinal diagnosis, and may later develop clinical manifestations typical of ichthyosiform erythroderma, lamellar ichthyosis, or self-resolving congenital ichthyosis. Netherton syndrome is characterized by acombination of congenital ichthyosis with structural abnormalities of the hair shaft and apropensity for atopy. Epidermolytic ichthyosis, accompanied by the formation of blisters and erosions on the skin, requires differential diagnosis not only with other forms of ichthyosis but also with bullous epidermolysis, staphylococcal scalded skin syndrome, and toxic epidermal necrolysis. Every newborn with described manifestations requires support from amultidisciplinary team of specialists and timely therapeutic and diagnostic measures aimed at preventing the development of complications and deterioration of the patient’s condition. Conclusion: An analysis of global literature data and the practical experience of the authors indicate the complexities of differential diagnosis of ichthyosis forms in the neonatal period. To improve skin condition, prevent infectious complications, and correct electrolyte and respiratory disturbances, symptomatic treatment should begin before adefinitive diagnosis is established.

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Journal
Archives of Pediatrics and Pediatric Surgery
Published
2024-09-15
DOI
https://doi.org/10.31146/2949-4664-apps-2-2-55-64
Primary Topic
Skin and Cellular Biology Research
Type
article
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article

Strategies for Differential Diagnosis and Management of Ichthyosis in Newborns

N. M. Marycheva, O. S. Orlova, Victoriya S. Polenova, Alena Alexandrovna Kuratova et al.
Archives of Pediatrics and Pediatric Surgery
Skin and Cellular Biology Research
article

Strategies for Differential Diagnosis and Management of Ichthyosis in Newborns

N. M. Marycheva, O. S. Orlova, Victoriya S. Polenova, Alena Alexandrovna Kuratova, Yu. M. Shokurova
article en

Abstract

Congenital ichthyosis represents agroup of heterogeneous inherited skin diseases characterized by generalized keratinization disorder in the form of hyperkeratosis, caused by abnormalities in epidermal differentiation. The neonatal period is crucial for patients with ichthyosis due to the risk of developing complications, comorbidities, and fatal outcomes. Most complications arise from impaired skin barrier function. This article discusses the manifestations of ichthyosis in newborns, describes risks and complications, and suggests strategies for monitoring and treating patients. Purpose of the study: to present contemporary data on differential diagnosis and treatment strategies for newborn patients with congenital ichthyosis. Materials and Methods: review of Russian and international sources dedicated to the etiology, diagnosis, and treatment of ichthyosis was conducted. Results: Differential diagnosis of ichthyosis in the neonatal period is acrucial task, hence the most life-threatening subtypes are considered. The most severe progression with ahigh risk of fatal outcomes is characteristic of Harlequin ichthyosis. Collodion baby presents with less pronounced symptoms, is not afinal diagnosis, and may later develop clinical manifestations typical of ichthyosiform erythroderma, lamellar ichthyosis, or self-resolving congenital ichthyosis. Netherton syndrome is characterized by acombination of congenital ichthyosis with structural abnormalities of the hair shaft and apropensity for atopy. Epidermolytic ichthyosis, accompanied by the formation of blisters and erosions on the skin, requires differential diagnosis not only with other forms of ichthyosis but also with bullous epidermolysis, staphylococcal scalded skin syndrome, and toxic epidermal necrolysis. Every newborn with described manifestations requires support from amultidisciplinary team of specialists and timely therapeutic and diagnostic measures aimed at preventing the development of complications and deterioration of the patient’s condition. Conclusion: An analysis of global literature data and the practical experience of the authors indicate the complexities of differential diagnosis of ichthyosis forms in the neonatal period. To improve skin condition, prevent infectious complications, and correct electrolyte and respiratory disturbances, symptomatic treatment should begin before adefinitive diagnosis is established.

Archives of Pediatrics and Pediatric SurgeryVol. 2(2)
National Medical Research Center for Obstetrics, Gynecology and Perinatology named after Academician V.I.Kulakov of the Ministry of Healthcare of the Russian Federation (RU)
Openalex Percentile: Top 83%
Skin and Cellular Biology Research
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