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Encephalocraniocutaneous lipomatosis

Known as: ECCL, Fishman syndrome 
A rare neoplastic syndrome characterized by the presence of unilateral lipomas of the cranium, face and neck, and ipsilateral cerebral malformations.
National Institutes of Health

Related topics

Related topics

39 relations
AdipocytesAdipose tissueAgenesis of corpus callosumAlopecia

Broader (3)

Disorder of eyeLipomatosisNeurocutaneous Syndromes

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2016
Highly Cited
2016
Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis
Oculoectodermal syndrome (OES) and encephalocraniocutaneous lipomatosis (ECCL) are rare disorders that share many common features… 
Review
2009
Review
2009
Class II malocclusion: mandibular retrusion or maxillary protrusion?
This study was undertaken to evaluate whether the majority of Class II skeletal patterns are mandibular retrusive or maxillary… 
Highly Cited
2008
Highly Cited
2008
Experiment assessment of the ballistic response of composite pyramidal lattice truss structures
Review
2007
Review
2007
Brain anomalies in encephalocraniocutaneous lipomatosis
Encephalocraniocutaneous lipomatosis (ECCL) is a sporadically occurring neurocutaneous disorder characterized by ocular anomalies… 
Review
2006
Review
2006
Oculocerebrocutaneous and encephalocraniocutaneous lipomatosis syndromes: Blind men and an elephant or separate syndromes?
The discovery of relevant causative genes has subdued the lumping versus splitting debate with respect to a growing number of… 
Review
2004
Review
2004
The central action of antidromic impulses in motor nerve fibres
In recent years investigations of the central effects produced by antidromic impulses in motor nerve fibres have provi~ded… 
Highly Cited
1995
Highly Cited
1995
RAD1 and RAD10, but not other excision repair genes, are required for double-strand break-induced recombination in Saccharomyces cerevisiae
HO endonuclease-induced double-strand breaks (DSBs) in the yeast Saccharomyces cerevisiae can be repaired by the process of gap… 
Highly Cited
1995
Highly Cited
1995
Encephalocraniocutaneous lipomatosis with a mutation in the NF1 gene.
Encephalocraniocutaneous lipomatosis (ECCL) is a congenital hamartomatous disorder characterised by unilateral skin lesions… 
Review
1993
Review
1993
Encephalocraniocutaneous Lipomatosis: Case Report and Review of the Literature
Abstract: Encephalocraniocutaneous Hpomatosis is a congenital disorder characterized by unilateral cerebral malformations and… 
Highly Cited
1992
Highly Cited
1992
Encephalocraniocutaneous lipomatosis and the Proteus syndrome: distinct entities with overlapping manifestations.
We have studied three children with cutaneous (epidermal nevi), subcutaneous (lipomas, plantar skin thickening), vascular… 
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