Genital endometriosis as a mask for tuberous sclerosis complex
Yarmolinskaya M.I., Kokhreidze N.A., Komlichenko E.V., Leontieva S.A., Koloshkina А.V.
Background: Tuberous sclerosis complex (TSC) is a rare hereditary disorder characterized by the formation of benign tumors in many systems and organs. This pathology is caused by mutations in the TSC1 and TSC2 genes, which are responsible for encoding hamartin and tuberin proteins that regulate cell growth in various organs and tissues of the body.
Case report: The article presents a description of a clinical case of TSC in a 12-year-old girl. The patient complained of dysmenorrhea since menarche, she also underwent one surgical intervention for uterine cystic mass and extensive pelvic endometriosis. After further thorough examination and diagnostic search involving different specialists from several leading institutions, comparing the clinical picture, results of instrumental and laboratory examinations, as well as the results of genetic testing, which revealed a mutation in the TSC1 gene, the patient was diagnosed with TSC. The clinical observation was characterized by the absence of clear clinical criteria of the disease, such as skin lesions, epileptic seizures, lesions of the central nervous system; however, the symptoms were similar to the clinical manifestations of endometriosis. This caused a delay in making the correct diagnosis and prescribing treatment.
Conclusion: This clinical example may be useful for doctors of different specialties, as the principles of multidisciplinary approach are necessary for timely diagnosis and treatment of such patients.
Authors’ contributions: Yarmolinskaya M.I., Kokhreidze N.A. – concept and design of the study, data analysis and conclusions; Yarmolinskaya M.I., Kokhreidze N.A., Komlichenko E.V., Leontyeva S.A., Koloshkina A.V. – data collection; Yarmolinskaya M.I., Kokhreidze N.A., Koloshkina A.V. – writing the manuscript.
Conflicts of interest: The authors declare no possible conflicts of interest.
Funding: The study was conducted without sponsorship.
Patient Consent for Publication: The mother of the minor girl obtained informed consent for publication of the patient's data and associated images.
For citation: Yarmolinskaya M.I., Kokhreidze N.A., Komlichenko E.V., Leontieva S.A., Koloshkina А.V.
Genital endometriosis as a mask for tuberous sclerosis complex.
Akusherstvo i Ginekologiya/Obstetrics and Gynecology. 2024; (7): 177-186 (in Russian)
https://dx.doi.org/10.18565/aig.2024.120
Keywords
tuberous sclerosis
TSC1 and TSC2 genes
endometriosis
endometriosis “masks”
clinical case
treatment
References
- Randle S.C. Tuberous sclerosis complex: a review. Pediatr. Ann. 2017; 46(4): e166-e171. https://dx.doi.org/10.3928/19382359-20170320-01.
- Дорофеева М.Ю., Белоусова Е.Д., Пивоварова А.М. Федеральные клинические рекомендации (протоколы) по диагностике и лечению туберозного склероза у детей. 2013. 54 с. [Dorofeeva M.Yu., Belousova E.D., Pivovarova A.M. Federal clinical guidelines (protocols) for the diagnosis and treatment of tuberous sclerosis in children. 2013. 54p. (in Russian)].
- Дорофеева М.Ю., Белоусова Е.Д., Пивоварова А.М. Рекомендации по диагностике и лечению туберозного склероза. Журнал неврологии и психиатрии им. С.С. Корсакова. 2014; 114(3): 58‑74. [Dorofeeva M.Iu., Belousova E.D., Pivovarova A.M. Recommendations for diagnosis and treatment of tuberous sclerosis. S.S. Korsakov Journal of Neurology and Psychiatry. 2014; 114(3): 58‑74. (in Russian)].
- Portocarrero L.K.L., Quental K.N., Samorano L.P., Oliveira Z.N.P., Rivitti-Machado M.C.D.M. Tuberous sclerosis complex: review based on new diagnostic criteria. An. Bras. Dermatol. 2018; 93(3): 323-31. https://dx.doi.org/10.1590/abd1806-4841.20186972.
- Caban C., Khan N., Hasbani D.M., Crino P.B. Genetics of tuberous sclerosis complex: implications for clinical practice. Appl. Clin. Genet. 2016; 10: 1-8. https://dx.doi.org/10.2147/TACG.S90262
- Tyburczy M.E., Dies K.A., Glass J., Camposano S., Chekaluk Y., Thorner A.R.et al. Mosaic and intronic mutations in TSC1/TSC2 explain the majority of TSC patients with no mutation identified by conventional testing. PLoSGenet. 2015; 11(11): e1005637. https://dx.doi.org/10.1371/journal.pgen.1005637.
- Rout P., Zamora E.A., Aeddula N.R. Tuberous sclerosis. 2024 May 27. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–.
- Pfirmann P., Combe C., Rigothier C. Sclérose tubéreuse de Bourneville: mise au point [Tuberous sclerosis complex: A review]. Rev. Med. Interne. 2021; 42(10): 714-21. French. https://dx.doi.org/10.1016/j.revmed.2021.03.003.
- Peron A., Au K.S., Northrup H. Genetics, genomics, and genotype-phenotype correlations of TSC: Insights for clinical practice. Am. J. Med. Genet. C. Semin. Med. Genet. 2018; 178(3): 281-90. https://dx.doi.org/10.1002/ajmg.c.31651.
- di Girolamo F., Sanchez-Corral Mena M.Á., Sanchez Fernandez J.J., Claver I Garrido E. Tuberous sclerosis: Fatty degeneration of rhabdomyoma. Med. Clin. (Barc). 2017; 148(12): e71. https://dx.doi.org/10.1016/j.medcli.2016.08.002.
- Wang S., Sun H., Wang J., Gu X., Han L., Wu Y. et al. Detection of TSC1/TSC2 mosaic variants in patients with cardiac rhabdomyoma and tuberous sclerosis complex by hybrid-capture next-generation sequencing. Mol. Genet. Genomic. Med. 2021; 9(10): e1802. https://dx.doi.org/10.1002/mgg3.1802.
- Barabrah A.M., Dukmak O.N., Toukan A.R., Dabbas F.M., Emar M., Rajai A. Bilateral renal angiomyolipoma with left renal artery aneurysm in tuberous sclerosis: case report and literature review. Ann. Med. Surg. (Lond). 2023; 85(10): 5113-6. https://dx.doi.org/10.1097/MS9.0000000000001157
- Nair N., Chakraborty R., Mahajan Z., Sharma A., Sethi S.K., Raina R. Renal manifestations of tuberous sclerosis complex. J. Kidney Cancer VHL. 2020; 7(3): 5-19. https://dx.doi.org/10.15586/jkcvhl.2020.131.
- Zöllner J.P., Franz D.N., Hertzberg C., Nabbout R., Rosenow F., Sauter M. et al. A systematic review on the burden of illness in individuals with tuberous sclerosis complex (TSC). Orphanet. J. Rare Dis. 2020; 15(1): 23.https://dx.doi.org/10.1186/s13023-019-1258-3.
- Stuart C., Fladrowski C., Flinn J., Öberg B., Peron A., Rozenberg M. et al. Beyond the Guidelines: How we can improve healthcare for people with tuberous sclerosis complex around the world. Pediatr. Neurol. 2021; 123: 77-84. https://dx.doi.org/10.1016/j.pediatrneurol.2021.07.010.
- Northrup H., Aronow M.E., Bebin E.M., Bissler J., Darling T.N., de Vries P.J. et al.; International Tuberous Sclerosis Complex Consensus Group. Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations. Pediatr. Neurol. 2021; 123: 50-66. https://dx.doi.org/10.1016/j.pediatrneurol.2021.07.011.
- Islam M.P., Roach E.S. Tuberous sclerosis complex. Handb. Clin. Neurol. 2015; 132: 97-109. https://dx.doi.org/10.1016/B978-0-444-62702-5.00006-8.
- Radhakrishnan R., Verma S. Clinically relevant imaging in tuberous sclerosis. J. Clin. Imaging Sci. 2011; 1: 39. https://dx.doi.org/10.4103/2156-7514.83230.
- Touraine R., Hauet Q., Harzallah I., Baruteau A.E. Tuberous sclerosis complex: genetic counselling and perinatal follow-up. Arch Pediatr. 2022; 29(5S): 5S3-5S7. https://dx.doi.org/10.1016/S0929-693X(22)00283-4.
- Apitz K. Die Geschwülste und Gewebsmissbildungen der Nierenrinde. II Midteilung. Die mesenchymalen Neubildungen. Virchows Arch. 1943; 311: 306-27.
- Bonetti F., Pea M., Martignoni G., Zamboni G. PEC and sugar. Am. J. Surg. Pathol. 1992; 16(3): 307-8. https://dx.doi.org/10.1097/00000478-199203000-00013.
- Folpe A.L., Mentzel T., Lehr H.A., Fisher C., Balzer B.L., Weiss S.W. Perivascular epithelioid cell neoplasms of soft tissue and gynecologic origin: a clinicopathologic study of 26 cases and review of the literature. Am. J. Surg. Pathol. 2005; 29(12): 1558-75. https://dx.doi.org/10.1097/01.pas.0000173232.22117.37.
- Houcine Y., Mekni K., Brahem E., Mlika M., Ayadi A., Fekih C. et al. A case of perivascular epithelioid nodules arising in an intramural leiomyoma. Hum. Pathol. Case Rep. 2021; 23(3): 200470. https://dx.doi.org/10.1016/j.ehpc.2020.200470.
- Folpe A.L., Kwiatkowski D.J. Perivascular epithelioid cell neoplasms: pathology and pathogenesis. Hum. Pathol. 2010; 41(1): 1-15. https://dx.doi.org/10.1016/j.humpath.2009.05.011
- Pazhanisamy S.K. Stem cells, DNA damage, ageing and cancer. Hematol. Oncol. Stem. Cell. Ther. 2009; 2(3): 375-84. https://dx.doi.org/10.1016/s1658-3876(09)50005-2.
- Greene L.A., Mount S.L., Schned A.R., Cooper K. Recurrent perivascular epithelioid cell tumor of the uterus (PEComa): an immunohistochemical study and review of the literature. Gynecol. Oncol. 2003; 90(3): 677-81. https://dx.doi.org/10.1016/s0090-8258(03)00325-1.
- Lin C.K., Sung Y.C. Newly diagnosed multiple myeloma in Taiwan: the evolution of therapy, stem cell transplantation and new treatment agents. Hematol. Oncol. Stem. Cell. Ther. 2009; 2(3): 385-93. https://dx.doi.org/10.1016/s1658-3876(09)50006-4.
- Bennett J.A., Braga A.C., Pinto A., Van de Vijver K., Cornejo K., Pesci A. et al. Uterine PEComas: a morphologic, immunohistochemical, and molecular analysis of 32 tumors. Am. J. Surg. Pathol. 2018; 42(10): 1370-83. https://dx.doi.org/10.1097/PAS.0000000000001119
- Wilhite A.M., Dal Zotto V., Pettus P., Jeansonne J., Scalici J. Perivascular epithelioid cell tumor (PEComa) of the uterus: Challenges of pregnancy in determining prognosis and optimal treatment. Gynecol. Oncol. Rep. 2022; 40:100962. https://dx.doi.org/10.1016/j.gore.2022.100962.
- Патент № 2711658 C1 Российская Федерация, МПК A61K 8/67, A61K 31/593, A61P 15/00. Способ лечения наружного генитального эндометриоза. № 2019111382: заявл. 16.04.2019; опубл. 20.01.2020/М.И. Ярмолинская, А.С. Денисова; заявитель Федеральное государственное бюджетное научное учреждение "Научно-исследовательский институт акушерства, гинекологии и репродуктологии имени Д.О. Отта". [Patent No. 2711658 C1 Russian Federation, IPC A61K 8/67, A61K 31/593, A61P 15/00. Method for the treatment of external genital endometriosis: No. 2019111382: application 04/16/2019: publ. 01/20/2020/M.I. Yarmolinskaya, A.S. Denisova; applicant Federal State Budgetary Scientific Institution "Research Institute of Obstetrics, Gynecology and Reproductology named after D.O. Ott" (in Russian)].
Received 15.05.2024
Accepted 10.07.2024
About the Authors
Maria I. Yarmolinskaya, Dr. Med. Sci., Professor of the Russian Academy of Sciences, Head of the Department of Gynecology and Endocrinology, Head of the Center of Diagnostics and Treatment of Endometriosis, D.O. Ott Research Institute of Obstetrics, Gynecology and Reproductology, 199034, Russia, St. Petersburg, Mendeleevskaya line, 3, m.yarmolinskaya@gmail.com, SPIN: 3686-3605, Researcher ID: P-2183-2014, Scopus Author ID: 7801562649, https://orcid.org/0000-0002-6551-4147Nadezhda A. Kokhreidze, Dr. Med. Sci., Associate Professor, Head of the Department of Gynecology of Children and Adolescents, Children’s Medical and Rehabilitation Complex, Almazov National Medical Research Center, Ministry of Health of Russia, 197341, Russia, Saint-Petersburg, Kolomyazhsky ave., 21-2, kokhreidze@mail.ru,
SPIN: 9382-2225, Scopus Author ID: 648349, https://orcid.org/0000-0002-0265-9728
Eduard V. Komlichenko, Dr. Med. Sci., obstetrician-gynecologist of the highest category, Deputy Chief Physician for Oncology, Professor at the Department of Organization, Management and Economics of Health, Almazov National Medical Research Center, Ministry of Health of Russia, 197341, Russia, St. Petersburg, Akkuratova str., 2,
e_komlichenko@mail.ru, SPIN: 9815-7555, Scopus Author ID: 715180, https://orcid.org/0000-0002-3790-0446
Svetlana A. Leontyeva, Teaching Assistant at the Department of Neonatology with a course of neurology and obstetrics and gynecology FP and DPO, St. Petersburg State Medical University, Ministry of Health of Russia, 194100, Russia, St. Petersburg, Litovskaya str., 2; Head of the Department of Pediatric Gynecology, Children’s Clinical Hospital No. 5, sonik1977@yandex.ru, https://orcid.org/0000-0002-5378-1344
Anastasiya V. Koloshkina, Resident, D.O. Ott Research institute of Obstetrics, Gynecology and Reproductology, 199034, Russia, St. Petersburg, Mendeleevskaya line, 3, nastyasalukhova@gmail.com, https://orcid.org/0000-0002-5200-7672
Similar Articles
