Long-term undiagnosed tuberous sclerosis

The article presents the history, etiology, pathogenesis and variability of the clinical picture of a rare genetic disease tuberous sclerosis. The clinical and laboratory criteria on the basis of which this diagnosis is made are described. Specialists of the Nizhny Novgorod Branch of the State Rese...

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Autores principales:	Tatyana N. Varenova, Venera A. Goshadze, Daria I. Akutina, Oleg N. Pomerantsev
Formato:	article
Lenguaje:	RU
Publicado:	State Scientific Center of Dermatovenereology and Cosmetology 2021
Materias:	tuberous sclerosis case report angiofibroma diagnostic criteria Dermatology RL1-803
Acceso en línea:	https://doaj.org/article/faa1a3092a6748cda45da7c0810795db
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spelling	oai:doaj.org-article:faa1a3092a6748cda45da7c0810795db2021-12-01T22:16:30ZLong-term undiagnosed tuberous sclerosis0042-46092313-629410.25208/vdv1237https://doaj.org/article/faa1a3092a6748cda45da7c0810795db2021-07-01T00:00:00Zhttps://vestnikdv.ru/jour/article/viewFile/1237/1207https://doaj.org/toc/0042-4609https://doaj.org/toc/2313-6294The article presents the history, etiology, pathogenesis and variability of the clinical picture of a rare genetic disease tuberous sclerosis. The clinical and laboratory criteria on the basis of which this diagnosis is made are described. Specialists of the Nizhny Novgorod Branch of the State Research Center of Dermatovenereology and Cosmetology, Ministry of Health of the Russian Federation carried out treatment and observation of the patient K. Patient was born in 1997, repeatedly turned to dermatologists in different cities of Russia with complaints about formations on the face, hands, legs and spots on the skin of the trunk that appeared in early childhood. The diagnosis was not confirmed. The doctors of the consultative and diagnostic center diagnosed with tuberous sclerosis based of four large and two small diagnostic criteria. Treatment of skin manifestations was carried out by laser destruction, it gave a good cosmetic effect. We recommended further examination by doctors of related specialties for identify lesions of other organs. This clinical case is of interest for dermatologists, because the described dermatosis is rarely found in everyday practice.Tatyana N. VarenovaVenera A. GoshadzeDaria I. AkutinaOleg N. PomerantsevState Scientific Center of Dermatovenereology and Cosmetologyarticletuberous sclerosiscase reportangiofibromadiagnostic criteriaDermatologyRL1-803RUVestnik Dermatologii i Venerologii, Vol 97, Iss 3, Pp 66-72 (2021)
institution	DOAJ
collection	DOAJ
language	RU
topic	tuberous sclerosis case report angiofibroma diagnostic criteria Dermatology RL1-803
spellingShingle	tuberous sclerosis case report angiofibroma diagnostic criteria Dermatology RL1-803 Tatyana N. Varenova Venera A. Goshadze Daria I. Akutina Oleg N. Pomerantsev Long-term undiagnosed tuberous sclerosis
description	The article presents the history, etiology, pathogenesis and variability of the clinical picture of a rare genetic disease tuberous sclerosis. The clinical and laboratory criteria on the basis of which this diagnosis is made are described. Specialists of the Nizhny Novgorod Branch of the State Research Center of Dermatovenereology and Cosmetology, Ministry of Health of the Russian Federation carried out treatment and observation of the patient K. Patient was born in 1997, repeatedly turned to dermatologists in different cities of Russia with complaints about formations on the face, hands, legs and spots on the skin of the trunk that appeared in early childhood. The diagnosis was not confirmed. The doctors of the consultative and diagnostic center diagnosed with tuberous sclerosis based of four large and two small diagnostic criteria. Treatment of skin manifestations was carried out by laser destruction, it gave a good cosmetic effect. We recommended further examination by doctors of related specialties for identify lesions of other organs. This clinical case is of interest for dermatologists, because the described dermatosis is rarely found in everyday practice.
format	article
author	Tatyana N. Varenova Venera A. Goshadze Daria I. Akutina Oleg N. Pomerantsev
author_facet	Tatyana N. Varenova Venera A. Goshadze Daria I. Akutina Oleg N. Pomerantsev
author_sort	Tatyana N. Varenova
title	Long-term undiagnosed tuberous sclerosis
title_short	Long-term undiagnosed tuberous sclerosis
title_full	Long-term undiagnosed tuberous sclerosis
title_fullStr	Long-term undiagnosed tuberous sclerosis
title_full_unstemmed	Long-term undiagnosed tuberous sclerosis
title_sort	long-term undiagnosed tuberous sclerosis
publisher	State Scientific Center of Dermatovenereology and Cosmetology
publishDate	2021
url	https://doaj.org/article/faa1a3092a6748cda45da7c0810795db
work_keys_str_mv	AT tatyananvarenova longtermundiagnosedtuberoussclerosis AT veneraagoshadze longtermundiagnosedtuberoussclerosis AT dariaiakutina longtermundiagnosedtuberoussclerosis AT olegnpomerantsev longtermundiagnosedtuberoussclerosis
_version_	1718404138638770176

Long-term undiagnosed tuberous sclerosis

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