Encephalocraniocutaneous lipomatosis

A neurocutaneous disorder that occurs as isolated cases. It is characterized by ocular anomalies, skin lesions, and central nervous system anomalies. OMIM: 613001

Also Known As:

Networked: 5 relevant articles (1 outcomes, 0 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Glioblastoma (Glioblastoma Multiforme)
2.	Costello Syndrome
3.	Noonan Syndrome (Female Pseudo-Turner Syndrome)
4.	Neurofibromatosis 1 (Neurofibromatosis Type I)
5.	Neoplasms (Cancer)

Experts

1.	Bavle, Abhishek: 1 article (10/2018)
2.	Gavula, Theresa: 1 article (10/2018)
3.	Gross, Naina: 1 article (10/2018)
4.	McNall-Knapp, Rene: 1 article (10/2018)
5.	Ruiz-Elizalde, Alejandro: 1 article (10/2018)
6.	Shah, Rikin: 1 article (10/2018)
7.	Wierenga, Klaas: 1 article (10/2018)
8.	Choi, Eun Mi: 1 article (12/2016)
9.	Choi, Hee Joung: 1 article (12/2016)
10.	Jung, Nani: 1 article (12/2016)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Encephalocraniocutaneous lipomatosis:

1.	Bevacizumab (Avastin)FDA Link 10/01/2016 - "Significant antitumor response of disseminated glioblastoma to bevacizumab resulting in long-term clinical remission in a patient with encephalocraniocutaneous lipomatosis: A case report."
2.	Mitogen-Activated Protein KinasesIBA 10/01/2018 - "Targeted sequencing of tissue from the right gluteal mass, revealed a mosaic activating FGFR1 c.1966A>G (p.Lys656Glu) mutation, absent in normal left gluteal tissue, confirming the diagnosis of encephalocraniocutaneous lipomatosis (ECCL), belonging to the family of RASopathies (including neurofibromatosis type I, Noonan syndrome, Costello syndrome), with constitutive activation of the mitogen-activated protein kinase (MAPK) pathway, and an increased risk of developing neoplasms. "
3.	Growth Hormone (Somatotropin)IBA 12/01/2016 - "Short stature and growth hormone deficiency in a girl with encephalocraniocutaneous lipomatosis and Jaffe-Campanacci syndrome: a case report."
4.	Fluorometholone (FML)FDA Link 03/01/2009 - "Encephalocraniocutaneous lipomatosis (ECCL) in a patient with history of familial multiple lipomatosis (FML)."
5.	Codon (Codons)IBA 10/01/2016 - "Specific mosaic KRAS mutations affecting codon 146 cause oculoectodermal syndrome and encephalocraniocutaneous lipomatosis."
6.	Temozolomide (Temodar)FDA LinkGeneric 10/01/2016 - "We herein report a case of glioblastoma in a 32-year-old female patient with encephalocraniocutaneous lipomatosis (ECCL) that had disseminated following surgical resection and subsequent treatment with temozolomide and radiation therapy. "

Therapies and Procedures

1.	Radiotherapy 10/01/2016 - "We herein report a case of glioblastoma in a 32-year-old female patient with encephalocraniocutaneous lipomatosis (ECCL) that had disseminated following surgical resection and subsequent treatment with temozolomide and radiation therapy. "