Encephalocraniocutaneous lipomatosis (Fishman syndrome): A rare neurocutaneous syndrome

PURPOSE: To report a rare case of encephalocraniocutaneous lipomatosis (ECCL) presented with characteristic multiple organ involvement. METHODS: A 7-day-old white Iranian girl was referred with ocular, skin and brain abnormalities. RESULTS: The findings of nevus psiloliparus, eyelid choristoma and i...

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Autores principales: Sharifi, Mohammad, Namdari, Maral
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4992101/
https://www.ncbi.nlm.nih.gov/pubmed/27579462
http://dx.doi.org/10.1016/j.joco.2016.06.004
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author Sharifi, Mohammad
Namdari, Maral
author_facet Sharifi, Mohammad
Namdari, Maral
author_sort Sharifi, Mohammad
collection PubMed
description PURPOSE: To report a rare case of encephalocraniocutaneous lipomatosis (ECCL) presented with characteristic multiple organ involvement. METHODS: A 7-day-old white Iranian girl was referred with ocular, skin and brain abnormalities. RESULTS: The findings of nevus psiloliparus, eyelid choristoma and intracranial lipoma were consistent with ECCL. CONCLUSION: Since the skin and ocular manifestations can be easily observed at birth examination, pediatricians and ophthalmologists should be aware of this condition.
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spelling pubmed-49921012016-08-30 Encephalocraniocutaneous lipomatosis (Fishman syndrome): A rare neurocutaneous syndrome Sharifi, Mohammad Namdari, Maral J Curr Ophthalmol Case Report PURPOSE: To report a rare case of encephalocraniocutaneous lipomatosis (ECCL) presented with characteristic multiple organ involvement. METHODS: A 7-day-old white Iranian girl was referred with ocular, skin and brain abnormalities. RESULTS: The findings of nevus psiloliparus, eyelid choristoma and intracranial lipoma were consistent with ECCL. CONCLUSION: Since the skin and ocular manifestations can be easily observed at birth examination, pediatricians and ophthalmologists should be aware of this condition. Elsevier 2016-07-15 /pmc/articles/PMC4992101/ /pubmed/27579462 http://dx.doi.org/10.1016/j.joco.2016.06.004 Text en Copyright © 2016, Iranian Society of Ophthalmology. Production and hosting by Elsevier B.V. http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Sharifi, Mohammad
Namdari, Maral
Encephalocraniocutaneous lipomatosis (Fishman syndrome): A rare neurocutaneous syndrome
title Encephalocraniocutaneous lipomatosis (Fishman syndrome): A rare neurocutaneous syndrome
title_full Encephalocraniocutaneous lipomatosis (Fishman syndrome): A rare neurocutaneous syndrome
title_fullStr Encephalocraniocutaneous lipomatosis (Fishman syndrome): A rare neurocutaneous syndrome
title_full_unstemmed Encephalocraniocutaneous lipomatosis (Fishman syndrome): A rare neurocutaneous syndrome
title_short Encephalocraniocutaneous lipomatosis (Fishman syndrome): A rare neurocutaneous syndrome
title_sort encephalocraniocutaneous lipomatosis (fishman syndrome): a rare neurocutaneous syndrome
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4992101/
https://www.ncbi.nlm.nih.gov/pubmed/27579462
http://dx.doi.org/10.1016/j.joco.2016.06.004
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AT namdarimaral encephalocraniocutaneouslipomatosisfishmansyndromearareneurocutaneoussyndrome

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