Encephalocraniocutaneous lipomatosis

Encephalocraniocutaneous lipomatosis (ECCL), is a rare condition primarily affecting the brain, eyes, and skin of the head and face.[2] It is characterized by unilateral subcutaneous and intracranial lipomas, alopecia, unilateral porencephalic cysts, epibulbar choristoma and other ophthalmic abnormalities.

Encephalocraniocutaneous lipomatosis
Other namesHaberland syndrome,[1]
SpecialtyNeurology

It was named after Haberland and Perou who first described it.[3]

History

This condition was first described in 1970.

See also

References
  1. Koishi, Giovanna Negrisoli; Yoshida, Mauricio; Alonso, Nivaldo; Matushita, Hamilton; Goldenberg, Dov (2008). "Encephalocraniocutaneous lipomatosis (haberland's syndrome): a case report of a neurocutaneous syndrome and a review of the literature". Clinics. 63 (3): 406–408. doi:10.1590/S1807-59322008000300020. PMC 2664244. PMID 18568254.
  2. Reference, Genetics Home. "ECCL". Genetics Home Reference. Retrieved 22 September 2017.
  3. Haberland, C; Perou, M (February 1970). "Encephalocraniocutaneous lipomatosis. A new example of ectomesodermal dysgenesis". Archives of Neurology. 22 (2): 144–55. doi:10.1001/archneur.1970.00480200050005. ISSN 0003-9942. PMID 4902772.
Classification
External resources


This article is issued from Wikipedia. The text is licensed under Creative Commons - Attribution - Sharealike. Additional terms may apply for the media files.