Clinical observation of familial cases of congenital ichthyosis

Author:

Pimenova Nailya R.1ORCID,Kashirskaya Elena I.1ORCID,Alekseeva Anastasiya V.1ORCID

Affiliation:

1. Astrakhan State Medical University

Abstract

Background. Ichthyosis is a group of rare genetic diseases with a wide phenotypic spectrum, characterized most often by generalized hyperkeratinization and desquamation with variable erythema [1]. In most cases, the diagnosis is established immediately after birth on the basis of clinical data. The basis of treatment is correct skin care, regular moisturizing, prevention of infection. Case Reports. The article describes clinical cases of congenital ichthyosis in two boys from the same family born 8 years apart. At the time of birth, both children had similar clinical signs and the disease progression types. Conclusion. Children in this family showed a genetically similar form of congenital ichthyosis. Due to timely initiation of complex treatment and correct skin care, there was a significant favourable evolution.

Publisher

Paediatrician Publishers LLC

Subject

Pulmonary and Respiratory Medicine,Pediatrics, Perinatology and Child Health

Reference16 articles.

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2. Murashkin NN, Avetisyan KO, Ivanov RA, Makarova SG. Congenital Ichthyosis: Clinical and Genetic Characteristics of the Disease. Voprosy sovremennoi pediatrii — Current Pediatrics. 2022;21(5):362-377. (In Russ). doi: https://doi.org/10.15690/vsp.v21i5.2459

3. Kawilarang B. Congenital harlequin ichthyosis: A rare case report and literature review. Indian J Case Reports. 2020;6(1):10-12. doi: https://doi.org/10.32677/IJCR.2020.v06.i01.004

4. Wasserman NN, Bayazutdinova GM, Braslavskaya SI, et al. Spectrum of mutations in autosomal recessive congenital ichthyosis in patients in the Russian Federation. Medicinskaya genetika = Medical genetics. 2015;14(11):23-28. (In Russ).

5. Talnikova EE, Sherstneva VN, Morrison AV, Utts SR. Ichthyosis: on the issue of inheritance (review). Saratovskij nauchno-medicinskij zhurnal = Saratov Scientific and Medical Journal. 2016;12(3):513-517. (In Russ).

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