UNUSUAL SKIN MANIFESTATIONS OF ATAXIA-TELANGIECTASIA (LOUIS-BAR SYNDROME)
- Authors: Golousenko I.Y.1
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Affiliations:
- SBEI HPE MSMSU named after A.I. Evdokimov of RMPH
- Issue: No 2S (2016)
- Pages: 14-16
- Section: Articles
- URL: https://journals.eco-vector.com/2073-4034/article/view/289617
- ID: 289617
Cite item
Abstract
The paper describes the unusual cutaneous manifestations in 5-year-old girl of with congenital ataxia-telangiectases (Louis-Bar syndrome), who has signs of lipid necrobiosis. Louis-Bar syndrome - a rare genetically determined pathology, which is manifested by combined lesions of the skin and nervous system. Diagnosis of the syndrome usually is extremely difficult due to the rare occurrence and limited awareness of physicians and associated health professionals. This article describes the algorithm of diagnostic procedures and differential diagnosis in order to establish the diagnosis. The data of histological examination are presented. It is noted that this case is of particular interest because the available literature has no descriptions of such skin manifestations in this rare genetic disorder.
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About the authors
I. Yu Golousenko
SBEI HPE MSMSU named after A.I. Evdokimov of RMPH
Email: golousenko5@mail.ru
MD, Associate Professor Moscow
References
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