Case report on tuberous sclerosis

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Tuberous sclerosis in the practice of a dermatologist

Nadezhda V. Krasnova, Geliya G. Gimalieva, Larisa G. Sinitsyna.

Budgetary institution of the Chuvash Republic "Republican dermatovenerologic dispensary" of the Ministry of Health of the Chuvash Republic, Cheboksary, Russian Federation

Relevance.
Tuberous sclerosis (TS) is a neurocutaneous, orphan, polysystemic, genetically determined disease with variable expressivity in which benign tumors (hamartomas) are detected in various organs, including the brain, eyes, skin, heart, kidneys, and liver. Less commonly, the process involves the lungs, the endocrine system and the gastrointestinal tract [1]. Population frequency in 1 in 6,000 children; 85% of cases develop due to a mutation in the TSC1 gene (9q34), which controls the production of hamartin, or the TSC2 gene (16p13.3), which controls the production of tuberin. These proteins act as growth suppressors. It is characteristic that new mutations are the cause of 2/3 of cases [2]. The risk of re-birth of a sick child with sporadic TS is 2%, with hereditary - 50% [3]. A visual examination of a patient can reveal various skin changes: hypopigmented spots, angiofibromas of the face, areas of "pebbled skin", periungual fibromas, fibrous plaques, white strands of hair [4].
Lesions in the brain with TS occur in more than 95% of patients from the moment of birth. They are tumor-like formations - hamartomas, located subependymally on the walls of the ventricles, accumulations of abnormal neurons and glia in the cortex, subcortical and in the white matter along the migration routes [5]. Almost all patients have impaired cognitive functions, manifested by the following problems: learning difficulties at school, most of which are associated with a specific delay in the formation of speech skills (difficulty in expressing thoughts, "tongue-tied", etc.); decreased logical ability; decreased ability to concentrate and switch attention [6].
Damage to the cardiovascular system is characteristic - the development of rhabdomyomas of the heart. Often they serve as the first clinical sign of the disease, preceding the appearance of other symptoms, since they are well diagnosed in utero during a routine ultrasound examination of the fetus [7].
Description of the case.
Patient M. at the age of 23 years consulted a dermatologist of the BU "RKVD" with complaints of a rash on the face, which had bothered since childhood. From the anamnesis it is known that the child is from the 1st pregnancy. Pregnancy proceeded against the background of gestosis, iron-deficiency anemia, and intrauterine fetal hypoxia. Delivery is urgent, in a natural way. The patient was observed by cosmetologists with a diagnosis of acne, flat warts. She received antiviral drugs for rashes, cryodestruction was performed. Notes the lack of effect of the therapy.
Results of physical, laboratory and instrumental research.
Objectively: skin lesions were widespread. On the skin of the back of the neck with the transition to the upper third of the back, hypopigmented spots were visualized (Fig. 1), on the skin of the face - multiple pink papules located on the cheeks, wings of the nose (angifibromas of the face) (Fig. 2), in the lumbar region - scattered areas yellowish-brown in color, moderately protruding above the level of the skin, of a dense consistency (Fig. 3). Periungual fibromas were visualized on the middle toe of the left hand (Fig. 4), on the 4th toe of the left foot (Fig. 5). Grouped small papules were noted on the gum of the upper jaw (Fig. 6). The patient notes that there were no changes in the next of kin.
An MRI examination of the brain revealed a mass in the region of the third ventricle, a small arachnoid cyst of the right frontal lobe, and a moderate expansion of the arachnoid space in the frontal-parietal lobes.
CT scan of the chest showed multiple foci in the lungs, bones, hilar lymphadenopathy.
Ultrasound of the abdominal organs revealed heterogeneity of the structure of the parenchyma of the right kidney (a rounded area of ​​echogenicity with an insufficiently clear contour of 7 * 8 mm).
Upon consultation with an ophthalmologist, background retinopathy and vascular changes were diagnosed.
She was diagnosed with tuberous sclerosis. The patient continues to be monitored by a neurologist and therapist. Based on the results of CT scan of the chest organs, an oncologist's consultation was scheduled to conduct an oncology search.
Conclusion.
With skin manifestations characteristic of this disease, it is necessary to conduct a comprehensive examination to identify concomitant pathology and early diagnosis of complications.

ADDITIONAL INFORMATION
Source of financing.
Patient consent. The patient voluntarily signed an informed consent for the publication of personal medical information in an impersonal form in the journal "Herald of Dermatology and Venereology".
Conflict of interests. The authors declare the absence of obvious and potential conflicts of interest associated with the publication

Figure captions:

Fig. 1. Hypopigmented spots on the back skin.

Fig. 2. Angifibromas of the face.

Fig. 3. Scattered areas of yellowish-brown color, dense consistency, moderately protruding above the level of the skin of the back.

Fig. 4. Periungual fibroids of the hand.

Fig. 5. Periungual fibroids of the foot.

Fig. 6. Grouped small papules on the upper jaw gums.

About the authors

Nadezhda V. Krasnova

Republican dermatovenereologic dispensary

Email: rkvd@med.cap.ru
ORCID iD: 0000-0002-4021-5116
SPIN-code: 5852-2210
Россия, Pirogova str., 6, 428015, Cheboksary

Geliya G. Gimalieva

Republican dermatovenereologic dispensary

Email: gelia-@mail.ru
ORCID iD: 0000-0002-4861-447X
SPIN-code: 5867-2990
Россия, Pirogova str., 6, 428015, Cheboksary

Larisa G. Sinitsyna

Republican dermatovenereologic dispensary

Author for correspondence.
Email: Laricasiniczyna@yandex.ru
ORCID iD: 0000-0002-4063-9306
SPIN-code: 5833-2480
Россия, Pirogova str., 6, 428015, Cheboksary

References

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