Encephalocraniocutaneous lipomatosis (Fishman syndrome): A rare neurocutaneous syndrome

Sharifi, M. and Namdari, M. (2016) Encephalocraniocutaneous lipomatosis (Fishman syndrome): A rare neurocutaneous syndrome. Journal of Current Ophthalmology, 28 (3). pp. 155-158.

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Abstract

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. © 2016 Iranian Society of Ophthalmology

Item Type: Article
Additional Information: Cited By :2 Export Date: 16 February 2020 Correspondence Address: Sharifi, M.; Eye Research Center, Mashhad University of Medical SciencesIran; email: sharifim@mums.ac.ir
Uncontrolled Keywords: Choristoma Encephalocraniocutaneous lipomatosis Neurocutaneous Nevus psiloliparus Article body distribution case report cesarean section computer assisted tomography cornea opacity echocardiography echography eye examination female hair loss human infant Iranian people lipoma ophthalmoscopy papule patent foramen ovale patient referral phakomatosis physical examination skin defect skin examination
Subjects: WL Nervous system
Divisions: Mashhad University of Medical Sciences
Depositing User: mr lib4 lib4
Date Deposited: 26 Feb 2020 09:46
Last Modified: 26 Feb 2020 09:46
URI: http://eprints.mums.ac.ir/id/eprint/13209

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