Encephalocraniocutaneous Lipomatosis

Common Name(s)

Encephalocraniocutaneous Lipomatosis

Encephalocraniocutaneous lipomatosis (ECCL) is a neurocutaneous disorder characterized by ocular anomalies, skin lesions, and central nervous system anomalies ({11:Moog et al., 2007}).
 

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

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

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

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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 7 free, full-text research articles on human participants. First 3 results:

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

Go To URL
[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

Go To URL
Encephalocraniocutaneous lipomatosis: a rare neurocutaneous syndrome.
 

Author(s): N R Gokhale, P M Mahajan, V A Belgaumkar, S N Pradhan, N S Uttarwar

Journal: Indian J Dermatol Venereol Leprol. ;73(1):40-2.

 

Encephalocraniocutaneous lipomatosis is a congenital hamartomatous disorder with unique ocular, cutaneous and neurological features. A 13-year-old boy presented with history of mental retardation and delayed developmental milestones. Bulbar conjunctiva of left eye showed hypertrophy ...

Last Updated: 22 Feb 2007

Go To URL

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 0 free, full-text review articles on human participants.

 
 
Top

Symptoms, Diagnosis, and Treatment

There are currently no related results available in Genetics Home Reference.

There are currently no related results available in GeneReviews.

 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.