Encephalocraniocutaneous lipomatosis

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Encephalocraniocutaneous lipomatosis
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Synonyms Haberland syndrome,[1]
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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.

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

History[edit | edit source]

This condition was first described in 1970.

See also[edit | edit source]

References[edit | edit source]

  1. , Encephalocraniocutaneous lipomatosis (haberland's syndrome): a case report of a neurocutaneous syndrome and a review of the literature, Clinics, Vol. 63(Issue: 3), pp. 406–408, DOI: 10.1590/S1807-59322008000300020, PMID: 18568254, PMC: 2664244,
  2. ECCL Full text, Genetics Home Reference,
  3. , Encephalocraniocutaneous lipomatosis. A new example of ectomesodermal dysgenesis., Archives of Neurology, Vol. 22(Issue: 2), pp. 144–55, DOI: 10.1001/archneur.1970.00480200050005, PMID: 4902772,

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