Proteus Syndrome: Description of Two Clinical Cases
Background . Proteus syndrome is extremely rare congenital multisystem disease with high variability in clinical manifestations. Its prevalence is unknown, there are less than 200 cases in the world literature. The syndrome is a classic example of somatic mosaicism, and all target drugs for its management are based on it. Clinical case description. This article describes two clinical cases with somatic variants of the nucleotide sequence in the AKT1 gene, mosaic form, revealed by the NGS method. Target drug (mTOR-inhibitors group) was assigned in one case. Conclusion . The description of the phenotypic features of patients with Proteus syndrome is crucial as this pathology is very rare. It is necessary to increase the awareness of clinicians about this disease to develop a plan for dynamic follow-up with consideration to life-threatening complications (malignant tumors and thrombembolia risk). Genetic verification of Proteus syndrome is mandatory nowadays as target therapy is actively developed and implemented, thus, revision of clinical guidelines is recommended.
Authors
- Т. Т. Валиев (ORCID: https://orcid.org/0000-0002-1469-2365)
- V. V. Emtsova (ORCID: https://orcid.org/0000-0001-5494-3803)
- Nikolay N. Murashkin (ORCID: https://orcid.org/0000-0003-2252-8570)
- G. B. Sagoyan (ORCID: https://orcid.org/0000-0002-7846-3473)
- Е. V. Sharapova (ORCID: https://orcid.org/0000-0002-5836-0338)
- Т. С. Белышева (ORCID: https://orcid.org/0000-0001-5911-553X)
- E. E. Zelenova (ORCID: https://orcid.org/0000-0002-2197-8863)
- Э. В. Кумирова (ORCID: https://orcid.org/0000-0001-6125-2410)
- V. V. Strelnikov (ORCID: https://orcid.org/0000-0001-9283-902X)
- В. В. Семенова (ORCID: https://orcid.org/0000-0002-9705-1001)
- Darya Osipova (ORCID: https://orcid.org/0000-0002-5863-3543)
- Наталя Семенова (ORCID: https://orcid.org/0000-0001-7041-045X)
- Т. В. Наседкина (ORCID: https://orcid.org/0000-0002-2642-4202)
- E. Yu. Bychkova (ORCID: https://orcid.org/0000-0002-4467-1151)
Institutions
- Engelhardt Institute of Molecular Biology (RU)
- Sechenov University (RU)
- Pirogov Russian National Research Medical University (RU)
- Central State Medical Academy (RU)
- Research Centre for Medical Genetics (RU)
Publication Details
- Journal
- Вопросы современной педиатрии
- Published
- 2024-10-31
- DOI
- https://doi.org/10.15690/vsp.v23i5.2797
- Citations
- 1
- Primary Topic
- Vascular Malformations and Hemangiomas
- Type
- article
- Field-Weighted Citation Impact
- 0.57