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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Detalles Bibliográficos
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
Descripción
Sumario: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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