Encephalocraniocutaneous Lipomatosis

Common Name(s)

Encephalocraniocutaneous Lipomatosis

Encephalocraniocutaneous lipomatosis (ECCL) is a neurocutaneous disorder characterized by ocular anomalies, skin lesions, and central nervous system (CNS) anomalies ({14:Moog et al., 2007}). The malformations in ECCL are patchy and asymmetric. The most characteristic skin anomaly is nevus psiloliparus, a well-demarcated, alopecic fatty tissue nevus on the scalp, seen in 80% of affected individuals. Other dermatologic features include frontotemporal or zygomatic subcutaneous fatty lipomas, non-scarring alopecia, focal dermal hypoplasia or aplasia of the scalp, periocular skin tags, and pigmentary abnormalities following the lines of Blaschko. Choristomas of the eye (epibulbar dermoids or lipodermoids) are also present in 80% of patients, and can be unilateral or bilateral. Characteristic CNS features in ECCL include intracranial and intraspinal lipomas, seen in 61% of patients, and less often cerebral asymmetry, arachnoid cysts, enlarged ventricles, and leptomeningeal angiomatosis. A predisposition to low-grade gliomas has also been observed. Seizures and intellectual disability are common, but one-third of affected individuals have normal intellect. Skeletal manifestations include bone cysts and jaw tumors, such as odontomas, osteomas, and ossifying fibromas (summary by {2:Bennett et al., 2016}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Encephalocraniocutaneous Lipomatosis" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Encephalocraniocutaneous Lipomatosis" returned 8 free, full-text research articles on human participants. First 3 results:

Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis.
 

Author(s): James T Bennett, Tiong Yang Tan, Diana Alcantara, Martine Tétrault, Andrew E Timms, Dana Jensen, Sarah Collins, Malgorzata J M Nowaczyk, Marjorie J Lindhurst, Katherine M Christensen, Stephen R Braddock, Heather Brandling-Bennett, Raoul C M Hennekam, Brian Chung, Anna Lehman, John Su, SuYuen Ng, David J Amor, , , Jacek Majewski, Les G Biesecker, Kym M Boycott, William B Dobyns, Mark O'Driscoll, Ute Moog, Laura M McDonell

Journal: Am. J. Hum. Genet.. 2016 Mar;98(3):579-87.

 

Encephalocraniocutaneous lipomatosis (ECCL) is a sporadic condition characterized by ocular, cutaneous, and central nervous system anomalies. Key clinical features include a well-demarcated hairless fatty nevus on the scalp, benign ocular tumors, and central nervous system lipomas. ...

Last Updated: 5 Mar 2016

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Encephalocraniocutaneous lipomatosis (Haberland's syndrome): a case report of a neurocutaneous syndrome and a review of the literature.
 

Author(s): Giovanna Negrisoli Koishi, Mauricio Yoshida, Nivaldo Alonso, Hamilton Matushita, Dov Goldenberg

Journal: Clinics (Sao Paulo). 2008 Jun;63(3):406-8.

 

Last Updated: 23 Jun 2008

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[Encephalocraniocutaneous lipomatosis (Haberland syndrome) with bilateral ocular damage].
 

Author(s): M López Sousa, J Varela Iglesias, M Bouzón Alejandro, M Lojo Rodríguez, A Pérez Muñuzuri, J R Fernández Lorenzo

Journal: An Pediatr (Barc). 2007 Jun;66(6):619-21.

 

Encephalocraniocutaneous lipomatosis, or Haberland syndrome, is an unusual form of neurocutaneous syndrome. Clinically, this syndrome is characterized by unilateral lipomatous hamartomas on the scalp and face, ocular damage and ipsilateral malformations of the central nervous system. ...

Last Updated: 22 Jun 2007

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Encephalocraniocutaneous Lipomatosis" returned 1 free, full-text review articles on human participants. First 3 results:

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

Author(s): Shivcharan L Chandravanshi

Journal: Indian J Ophthalmol. 2014 May;62(5):622-7.

 

Encephalocraniocutaneous lipomatosis (ECCL) is a rare, sporadic congenital neurocutaneous disorder that characteristically involves ectomesodermal tissues, such as skin, eyes, and central nervous system. A 3-day-old girl presented with swelling in her right eye since birth. Ocular ...

Last Updated: 2 Jun 2014

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Symptoms, Diagnosis, and Treatment

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