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Tip of the Iceberg: Forme Fruste Tuberous Sclerosis in a Child
Tuberous sclerosis complex (TSC) is a neurodevelopmental disorder characterized by dermatologic manifestations and growth of multiple benign tumors often involving the brain, skin, kidneys, heart, lungs, and liver. It exhibits wide phenotypic variation, ranging from the most severe cases with intell...
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Medknow Publications & Media Pvt Ltd
2018
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Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6057210/ https://www.ncbi.nlm.nih.gov/pubmed/30090134 http://dx.doi.org/10.4103/jpn.JPN_165_17 |
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author | Engel, Sarah G. K. Bhatia, Sonal |
author_facet | Engel, Sarah G. K. Bhatia, Sonal |
author_sort | Engel, Sarah G. K. |
collection | PubMed |
description | Tuberous sclerosis complex (TSC) is a neurodevelopmental disorder characterized by dermatologic manifestations and growth of multiple benign tumors often involving the brain, skin, kidneys, heart, lungs, and liver. It exhibits wide phenotypic variation, ranging from the most severe cases with intellectual disability and intractable epilepsy to the mildest, clinically silent forms of the disease. The incidence of TSC is reported to be 1/6000; however, this does not account for those with milder forms of the disease, of which forme fruste is the mildest. Forme fruste is a French term for a “crude or unfinished form.” In medicine, it refers to an atypical or attenuated manifestation of a clinical condition and implies an incomplete, partial, or an aborted disease state. Here, we describe a rare case of forme fruste TSC incidentally diagnosed in an otherwise healthy child, highlighting the implications of the diagnosis for treatment and screening in similarly affected pediatric patients. |
format | Online Article Text |
id | pubmed-6057210 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | Medknow Publications & Media Pvt Ltd |
record_format | MEDLINE/PubMed |
spelling | pubmed-60572102018-08-08 Tip of the Iceberg: Forme Fruste Tuberous Sclerosis in a Child Engel, Sarah G. K. Bhatia, Sonal J Pediatr Neurosci Case Report Tuberous sclerosis complex (TSC) is a neurodevelopmental disorder characterized by dermatologic manifestations and growth of multiple benign tumors often involving the brain, skin, kidneys, heart, lungs, and liver. It exhibits wide phenotypic variation, ranging from the most severe cases with intellectual disability and intractable epilepsy to the mildest, clinically silent forms of the disease. The incidence of TSC is reported to be 1/6000; however, this does not account for those with milder forms of the disease, of which forme fruste is the mildest. Forme fruste is a French term for a “crude or unfinished form.” In medicine, it refers to an atypical or attenuated manifestation of a clinical condition and implies an incomplete, partial, or an aborted disease state. Here, we describe a rare case of forme fruste TSC incidentally diagnosed in an otherwise healthy child, highlighting the implications of the diagnosis for treatment and screening in similarly affected pediatric patients. Medknow Publications & Media Pvt Ltd 2018 /pmc/articles/PMC6057210/ /pubmed/30090134 http://dx.doi.org/10.4103/jpn.JPN_165_17 Text en Copyright: © 2018 Journal of Pediatric Neurosciences http://creativecommons.org/licenses/by-nc-sa/4.0 This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms. |
spellingShingle | Case Report Engel, Sarah G. K. Bhatia, Sonal Tip of the Iceberg: Forme Fruste Tuberous Sclerosis in a Child |
title | Tip of the Iceberg: Forme Fruste Tuberous Sclerosis in a Child |
title_full | Tip of the Iceberg: Forme Fruste Tuberous Sclerosis in a Child |
title_fullStr | Tip of the Iceberg: Forme Fruste Tuberous Sclerosis in a Child |
title_full_unstemmed | Tip of the Iceberg: Forme Fruste Tuberous Sclerosis in a Child |
title_short | Tip of the Iceberg: Forme Fruste Tuberous Sclerosis in a Child |
title_sort | tip of the iceberg: forme fruste tuberous sclerosis in a child |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6057210/ https://www.ncbi.nlm.nih.gov/pubmed/30090134 http://dx.doi.org/10.4103/jpn.JPN_165_17 |
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