Literature DB >> 3611632

Encephalocraniocutaneous lipomatosis.

M A Fishman.   

Abstract

Encephalocraniocutaneous lipomatosis is a distinct clinical syndrome characterized by unilateral cerebral malformations and ipsilateral scalp, face, and eye lesions. The cutaneous lesions are confined to the head. The central nervous system lesions consist in part of cerebral hemiatrophy, porencephaly, and defective opercularization of the insula. The intracranial lesions and clinical symptomatology are progressive, and appear, in part, to have a vascular pathogenesis. This suggests that a primary defect in the formation of tissues derived from embryonic mesenchyme may be responsible for the syndrome and that tissues derived from ectoderm may be secondarily affected.

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Mesh:

Year:  1987        PMID: 3611632     DOI: 10.1177/088307388700200303

Source DB:  PubMed          Journal:  J Child Neurol        ISSN: 0883-0738            Impact factor:   1.987


  6 in total

1.  A case of encephalocraniocutaneous lipomatosis.

Authors:  H B Chittenden; K E Harman; F Robinson; E M Higgins
Journal:  Br J Ophthalmol       Date:  2002-08       Impact factor: 4.638

2.  Encephalocraniocutaneous lipomatosis with a mutation in the NF1 gene.

Authors:  E Legius; R Wu; M Eyssen; P Marynen; J P Fryns; J J Cassiman
Journal:  J Med Genet       Date:  1995-04       Impact factor: 6.318

Review 3.  Ophthalmologic abnormalities in encephalocraniocutaneous lipomatosis.

Authors:  M J MacLaren; I Kluijt; F D Koole
Journal:  Doc Ophthalmol       Date:  1995       Impact factor: 2.379

4.  Encephalocraniocutaneous Lipomatosis: A Rare Association With Tethered Spinal Cord Syndrome With Review of Literature.

Authors:  Amal Naous; Abdel Rahman Shatila; Zeina Naja; Ahmad Salaheddine Naja; Mariam Rajab
Journal:  Child Neurol Open       Date:  2015-02-13

5.  Encephalocraniocutaneous Lipomatosis Associated with Orbital Cyst: A Variant or New Entity?

Authors:  Abubakar Garba Farouk; Abubakar Farate; Zainab Yero Musa; Abba Bukar Zarami; Hajja-Falmata Kachallah Monguno
Journal:  Turk J Ophthalmol       Date:  2021-02-25

Review 6.  Encephalocraniocutaneous lipomatosis: a case report and review of the literature.

Authors:  Shivcharan L Chandravanshi
Journal:  Indian J Ophthalmol       Date:  2014-05       Impact factor: 1.848

  6 in total

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