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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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2016-09-01
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| Series: | Journal of Current Ophthalmology |
| Subjects: | |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2452232516300695 |
| _version_ | 1831683632188620800 |
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| author | Mohammad Sharifi Maral Namdari |
| author_facet | Mohammad Sharifi Maral Namdari |
| author_sort | Mohammad Sharifi |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-12-20T06:41:07Z |
| format | Article |
| id | doaj.art-cb687971a85243f78b3d89b35b4dfc51 |
| institution | Directory Open Access Journal |
| issn | 2452-2325 |
| language | English |
| last_indexed | 2024-12-20T06:41:07Z |
| publishDate | 2016-09-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Journal of Current Ophthalmology |
| spelling | doaj.art-cb687971a85243f78b3d89b35b4dfc512022-12-21T19:49:51ZengWolters Kluwer Medknow PublicationsJournal of Current Ophthalmology2452-23252016-09-0128315515810.1016/j.joco.2016.06.004Encephalocraniocutaneous lipomatosis (Fishman syndrome): A rare neurocutaneous syndromeMohammad SharifiMaral NamdariPurpose: 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.http://www.sciencedirect.com/science/article/pii/S2452232516300695ChoristomaEncephalocraniocutaneous lipomatosisNeurocutaneousNevus psiloliparus |
| spellingShingle | Mohammad Sharifi Maral Namdari Encephalocraniocutaneous lipomatosis (Fishman syndrome): A rare neurocutaneous syndrome Journal of Current Ophthalmology Choristoma Encephalocraniocutaneous lipomatosis Neurocutaneous Nevus psiloliparus |
| 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 | Choristoma Encephalocraniocutaneous lipomatosis Neurocutaneous Nevus psiloliparus |
| url | http://www.sciencedirect.com/science/article/pii/S2452232516300695 |
| work_keys_str_mv | AT mohammadsharifi encephalocraniocutaneouslipomatosisfishmansyndromearareneurocutaneoussyndrome AT maralnamdari encephalocraniocutaneouslipomatosisfishmansyndromearareneurocutaneoussyndrome |